16p11.2
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
435806Range
29692499-30792499Associated Human Genes
BCKDK, CORO1A, KCTD13, MAPK3, SETD1A, SEZ6L2, SRCAP, TAOK2Associated Mouse Models
M_DF(7)_10_HT_M_DP(7)_HT, M_DF(7)_11_HT, M_DF(7)_12_HT, M_DF(7)_12_HT_BACLOFEN, M_DF(7)_12_HT_RB1/RB3-1, M_DF(7)_12_HT_RB1/RB3-2, M_DF(7)_13_HT, M_DF(7)_13_HT_BACLOFEN, M_DF(7)_14_HT, M_DF(7)_14_HT_ RS-102221, M_DF(7)_14_HT_VOLINANSERIN-1, M_DF(7)_14_HT_VOLINANSERIN-2, M_DF(7)_14_HT_VOLINANSERIN-3, M_DF(7)_15_HT_STRESS, M_DF(7)_16_HT_NES-CRE, M_DF(7)_17_HM_NES-CRE, M_DF(7)_18_HT_DRN-INACT, M_DF(7)_18_HT_DRN-INACT-DRN-ACT, M_DF(7)_19_HT_SERT-CRE, M_DF(7)_19_HT_SERT-CRE-CP93129, M_DF(7)_19_HT_SERT-CRE-DRN-ACT, M_DF(7)_19_HT_SERT-CRE-DRN-ACT-NAS181, M_DF(7)_19_HT_SERT-CRE-DS-ACT, M_DF(7)_19_HT_SERT-CRE-NA-ACT, M_DF(7)_19_HT_SERT-CRE-NA-ACT-1, M_DF(7)_1_HT, M_DF(7)_1_HT-DRD1A-DRD2MARKER, M_DF(7)_1_HT_CTEP, M_DF(7)_20_HT, M_DF(7)_20_HT_ISOGUVACINE, M_DF(7)_3_HT, M_DF(7)_3_HT-DRD2EGFP, M_DF(7)_3_HT_RISPERIDONE, M_DF(7)_4_HT, M_DF(7)_5_HT, M_DF(7)_6_HT, M_DF(7)_8_HT, M_DP(7)_2_HT, M_DP(7)_7_HT, M_DP(7)_9_HT, M_DF(7)_14_HT_IODOAMPHETAMINEAutism Reports
116Populations
139 (133 case / 6 control)Individuals
1551 (1232 case / 319 control)Summary
Copy number variants in the 16p11.2 locus are among the most freqeuntly observed in autistic populations. These CNVs are typically at least 500,000 base pairs in length, with start and end points at ~29.56 Mb and ~30.11 Mb, respectively. Deletions are observed more frequently than duplications at this locus in autistic individuals.
Reports related to 16p11.2 (116 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Major | Strong association of de novo copy number mutations with autism. | Sebat J , et al. (2007) |
| 2 | Major | Recurrent 16p11.2 microdeletions in autism. | Kumar RA , et al. (2007) |
| 3 | Major | Association between microdeletion and microduplication at 16p11.2 and autism. | Weiss LA , et al. (2008) |
| 4 | Major | Structural variation of chromosomes in autism spectrum disorder. | Marshall CR , et al. (2008) |
| 5 | Major | Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. | Christian SL , et al. (2008) |
| 6 | Major | Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. | Glessner JT , et al. (2009) |
| 7 | Major | Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism ... | Fernandez BA , et al. (2009) |
| 8 | Major | Microduplications of 16p11.2 are associated with schizophrenia. | McCarthy SE , et al. (2009) |
| 9 | Minor | Clinical genetic testing for patients with autism spectrum disorders. | Shen Y , et al. (2010) |
| 10 | Major | Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D , et al. (2010) |
| 11 | Major | Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. | Schaefer GB , et al. (2010) |
| 12 | Major | Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. | Rosenfeld JA , et al. (2010) |
| 13 | Major | De novo rates and selection of large copy number variation. | Itsara A , et al. (2010) |
| 14 | Major | Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. | Bremer A , et al. (2011) |
| 15 | Minor | Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. | Shen Y , et al. (2011) |
| 16 | Major | Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. | Crepel A , et al. (2011) |
| 17 | Minor | Rare structural variation of synapse and neurotransmission genes in autism. | Gai X , et al. (2011) |
| 18 | Minor | Novel copy number variants in children with autism and additional developmental anomalies. | Davis LK , et al. (2009) |
| 19 | Major | Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. | Sanders SJ , et al. (2011) |
| 20 | Major | Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D , et al. (2011) |
| 21 | Minor | Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. | Chung BH , et al. (2011) |
| 22 | Major | An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... | Kaminsky EB , et al. (2011) |
| 23 | Major | Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. | Celestino-Soper PB , et al. (2011) |
| 24 | Minor | Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance. | Gannon WT , et al. (2011) |
| 25 | Minor | Age- and gender-dependent obesity in individuals with 16p11.2 deletion. | Yu Y , et al. (2011) |
| 26 | Major | Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity. | Ciuladait Z , et al. (2011) |
| 27 | Major | Relative burden of large CNVs on a range of neurodevelopmental phenotypes. | Girirajan S , et al. (2011) |
| 28 | Minor | Rare deletions at the neurexin 3 locus in autism spectrum disorder. | Vaags AK , et al. (2012) |
| 29 | Major | Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. | Tabet AC , et al. (2012) |
| 30 | Major | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. | O'Roak BJ , et al. (2012) |
| 31 | Major | Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. | Griswold AJ , et al. (2012) |
| 32 | Major | ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion. | Kino T , et al. (2012) |
| 33 | Major | KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. | Golzio C , et al. (2012) |
| 34 | Minor | Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis. | Davis LK , et al. (2012) |
| 35 | Minor | Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. | Laffin JJ , et al. (2012) |
| 36 | Minor | Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. | Bartnik M , et al. (2012) |
| 37 | Major | Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. | Raca G , et al. (2012) |
| 38 | Minor | Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. | Newbury DF , et al. (2012) |
| 39 | Minor | Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? | Van Den Bossche MJ , et al. (2012) |
| 40 | Minor | Infantile spasms are associated with abnormal copy number variations. | Tiwari VN , et al. (2012) |
| 41 | Major | Phenotypic heterogeneity of genomic disorders and rare copy-number variants. | Girirajan S , et al. (2012) |
| 42 | Major | A discovery resource of rare copy number variations in individuals with autism spectrum disorder. | Prasad A , et al. (2013) |
| 43 | Minor | Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. | Beunders G , et al. (2013) |
| 44 | Major | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. | Girirajan S , et al. (2013) |
| 45 | Minor | Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. | Nguyen LS , et al. (2013) |
| 46 | Minor | Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. | Lionel AC , et al. (2013) |
| 47 | Major | Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. | Bna F , et al. (2013) |
| 48 | Major | Global increases in both common and rare copy number load associated with autism. | Girirajan S , et al. (2013) |
| 49 | Minor | Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. | Nava C , et al. (2013) |
| 50 | Minor | New insights into replication clamp unloading. | Ulrich HD (2013) |
| 51 | Major | High rate of disease-related copy number variations in childhood onset schizophrenia. | Ahn K , et al. (2013) |
| 52 | Minor | Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders. | Stobbe G , et al. (2013) |
| 53 | Major | An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3. | Pebrel-Richard C , et al. (2013) |
| 54 | Major | Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. | Mulle JG , et al. (2013) |
| 55 | Major | Transmission disequilibrium of small CNVs in simplex autism. | Krumm N , et al. (2013) |
| 56 | Minor | Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS , et al. (2013) |
| 57 | Minor | Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. | Sajan SA , et al. (2013) |
| 58 | Major | Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. | Roberts JL , et al. (2013) |
| 59 | Major | Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. | Egger G , et al. (2014) |
| 60 | Minor | Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region. | Egger JI , et al. (2014) |
| 61 | Major | Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. | Pinto D , et al. (2014) |
| 62 | Major | 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. | Reinthaler EM , et al. (2014) |
| 63 | Major | The clinical significance of small copy number variants in neurodevelopmental disorders. | Asadollahi R , et al. (2014) |
| 64 | Major | Copy number variation in Han Chinese individuals with autism spectrum disorder. | Gazzellone MJ , et al. (2014) |
| 65 | Major | Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. | Moreira DP , et al. (2014) |
| 66 | Minor | The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. | Al-Qattan SM , et al. (2014) |
| 67 | Minor | Large-scale discovery of novel genetic causes of developmental disorders. | Deciphering Developmental Disorders Study (2014) |
| 68 | Major | Performance of case-control rare copy number variation annotation in classification of autism. | Engchuan W , et al. (2015) |
| 69 | Major | Excess of rare, inherited truncating mutations in autism. | Krumm N , et al. (2015) |
| 70 | Minor | A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. | Fedorenko E , et al. (2015) |
| 71 | Minor | Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis... | Shin S , et al. (2015) |
| 72 | Minor | Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. | Tammimies K , et al. (2015) |
| 73 | Minor | RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. | Soueid J , et al. (2016) |
| 74 | Minor | Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications. | Oikonomakis V , et al. (2016) |
| 75 | Minor | The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. | Wenger TL , et al. (2016) |
| 76 | Minor | Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. | Yin CL , et al. (2016) |
| 77 | Major | Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. | Tropeano M , et al. (2016) |
| 78 | Major | Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. | Fry AE , et al. (2016) |
| 79 | Minor | Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou... | Xu Q , et al. (2016) |
| 80 | Major | Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. | Mosca SJ , et al. (2016) |
| 81 | Minor | Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. | Breckpot J , et al. (2016) |
| 82 | Minor | Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders. | Picinelli C , et al. (2016) |
| 83 | Major | Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. | Leppa VM , et al. (2016) |
| 84 | Major | Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. | Wolfe K , et al. (2016) |
| 85 | Major | Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. | Pfundt R , et al. (2016) |
| 86 | Major | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) |
| 87 | Major | Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. | Guo H , et al. (2017) |
| 88 | Minor | Copy number variation analysis of patients with intellectual disability from North-West Spain. | Quintela I , et al. (2017) |
| 89 | Minor | Copy Number Variations independently induce Autism Spectrum Disorder. | Xie Y , et al. (2017) |
| 90 | Minor | Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability. | Sansovi I , et al. (2017) |
| 91 | Minor | Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10. | Mak ASL , et al. (2017) |
| 92 | Major | High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan. | Chen CH , et al. (2017) |
| 93 | Minor | Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ... | Lee SH and Song WJ (2017) |
| 94 | Major | Paternally inherited cis-regulatory structural variants are associated with autism. | Brandler WM , et al. (2018) |
| 95 | Minor | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. | Kushima I , et al. (2018) |
| 96 | Major | Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. | Guo H , et al. (2018) |
| 97 | Minor | Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder | Fan Y et al. (2018) |
| 98 | Minor | CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders. | Repnikova EA , et al. (2019) |
| 99 | Minor | The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders. | Jiao Q , et al. (2019) |
| 100 | Major | Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. | Munnich A , et al. (2019) |
| 101 | Minor | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) |
| 102 | Major | Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use. | Husson T , et al. (2020) |
| 103 | Minor | Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank | Yap CX et al. (2021) |
| 104 | Minor | Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder | Mahjani B et al. (2021) |
| 105 | Minor | Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center | Du X et al. (2021) |
| 106 | Minor | Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants | Tuncay IO et al. (2022) |
| 107 | Minor | Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean | Verberne EA et al. (2022) |
| 108 | Major | Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder | Kushima I et al. (2022) |
| 109 | Minor | Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China | Hu C et al. (2022) |
| 110 | Minor | Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder | Chan AJS et al. (2022) |
| 111 | Major | - | Miyake N et al. (2023) |
| 112 | Minor | Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates | Marta Viggiano et al. (2024) |
| 113 | Minor | Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings | Axel Schmidt et al. (2024) |
| 114 | Minor | Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD | Karen Lob et al. () |
| 115 | Minor | Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort | Hosneara Akter et al. () |
| 116 | Minor | Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay | Chengyan Li et al. (2024) |
Show all Case Details
Show all Cohort Details
16p11.2
Description:
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
Diagnosis:
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
Bartnik M , et al. (2012)Cohort Size: 102
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 573000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
Software: BCM web-based software, IMiD-web2py
Algorithm: -
Geographical Ancestry: Poland
16p11.2
Description:
Affected individuals in a family (two siblings and their mother) with intellectual disability and epilepsy
Diagnosis:
Intellectual disability (ID) and epilepsy (EP)
Ulrich HD (2013)Cohort Size: 3
Age Min: -
Age Max: -
Average: -
Male: 33
Female: 67
Unknown: -
CNV Size: 700000
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent SurePrint G3 1M array
Software: Genome Workbench
Algorithm: -
Geographical Ancestry: N/A
16p11.2
Description:
Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
Diagnosis:
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
Ahn K , et al. (2013)Cohort Size: 126
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 604000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
Solid phase hybridization
Validation Method:
Validation based on familial presence of CNV
Platform: Illumina Human or HumanOmni Beadchips
Software: Illumina GenomeStudio, CNVision, Nexus copy number
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A
16p11.2
Description:
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
Diagnosis:
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
Asadollahi R , et al. (2014)Cohort Size: 714
Age Min: 72
Age Max: 72
Average: 72
Male: -
Female: 100
Unknown: -
CNV Size: 443000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
MLPA
Platform: Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
Software: Affymetrix ChAS v.1.0.1
Algorithm: HMM
Geographical Ancestry: Predominantly European
16p11.2
Description:
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
Diagnosis:
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
Al-Qattan SM , et al. (2014)Cohort Size: 584
Age Min: -
Age Max: -
Average: -
Male: 67
Female: -
Unknown: 33
CNV Size: 555159
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
Software: Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
Algorithm: HMM
Geographical Ancestry: Saudi Arabia
16p11.2
Description:
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
Diagnosis:
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
Hosneara Akter et al. ()Cohort Size: 576
Age Min: 34.8
Age Max: 73.2
Average: 54
Male: 50
Female: 50
Unknown: -
CNV Size: 613038
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
CMA
Validation Method:
-
Platform: Illumina Global Screening Array-24+ v3.0
Software: Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
Algorithm: -
Geographical Ancestry: Bangladesh
16p11.2
Description:
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
Diagnosis:
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
Bremer A , et al. (2011)Cohort Size: 223
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 580000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
MLPA, FISH
Platform: BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
Software: -
Algorithm: -
Geographical Ancestry: Swedish
16p11.2
Description:
Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada
Diagnosis:
Intellectual disability and/or mulitple congenital anomalies
Beunders G , et al. (2013)Cohort Size: 49684
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 212848
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
Software: -
Algorithm: -
Geographical Ancestry: NA
16p11.2
Description:
Previously unreported individuals with NRXN1 exonic deletions recruited as part of a multicenter study
Diagnosis:
Diagnosis of ASD in 65% of cases (diagnostic tools N/A). Other recurrent diagnoses: intellectual disability (91%), language delay (81%), seizures (43%), and hypotonia (38%).
Bna F , et al. (2013)Cohort Size: 25
Age Min: 144
Age Max: 144
Average: 144
Male: 100
Female: -
Unknown: -
CNV Size: 680000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
FISH, MLPA
Platform: Agilent 244K, Agilent 105K, Agilent 180K, OGT custom design 180K, Affymetrix 250K NspI, Affymetrix 250K, Affymetrix Cyto-2.7 M, Illumina 12-330K
Software: -
Algorithm: -
Geographical Ancestry: N/A
16p11.2
Description:
Adult psychiatric patients with intellectual disability and catatonia recruited from an inpatient unit in the St-Camillus Psychiatric Hospital (Bierbeek, Belgium) from January 2005-January 2015
Diagnosis:
Cases diagnosed with intellectual disability (ID) and catatonia (DSM-5 criteria)
Breckpot J , et al. (2016)Cohort Size: 15
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 600000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: OGT CytoSure ISCA
Software: -
Algorithm: -
Geographical Ancestry: Belgium
16p11.2
Description:
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
Diagnosis:
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
Brandler WM , et al. (2018)Cohort Size: 880
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 668500
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
PCR, array SNP
Platform: Illumina HiSeq X10 or HiSeq 2500
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A
16p11.2
Description:
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
Diagnosis:
ASD
Celestino-Soper PB , et al. (2011)Cohort Size: 99
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 618367
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
aCGH (Agilent 4x180K or 8x60K)
Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -
16p11.2
Description:
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
Diagnosis:
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Chen CH , et al. (2017)Cohort Size: 335
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 600000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
RT-qPCR
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
16p11.2
Description:
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
Diagnosis:
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Chan AJS et al. (2022)Cohort Size: 325
Age Min: -
Age Max: -
Average: -
Male: 67
Female: 33
Unknown: -
CNV Size: 864000
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
WGS
Validation Method:
None
Platform: Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
Software: ERDS v.1.1, CNVnator v.0.3.2
Algorithm: NA
Geographical Ancestry: Canada
16p11.2
Description:
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
Diagnosis:
ASD
Christian SL , et al. (2008)Cohort Size: 397
Age Min: -
Age Max: -
Average: -
Male: 25
Female: 75
Unknown: -
CNV Size: 980000
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
aCGH
Validation Method:
FISH, microsatellite, qPCR
Platform: RPCI 19K BAC microarray
Software: -
Algorithm: -
Geographical Ancestry: 235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
16p11.2
Description:
Patients from the Leuven Autism Research (LauRes) consortium
Diagnosis:
Diagnosis of non-syndromic ASD (DSM-IV criteria); normal karyotype. Exclusion criteria: Fragile-X syndrome & profound-to-moderate mental retardation
Crepel A , et al. (2011)Cohort Size: 363
Age Min: 216
Age Max: 216
Average: 216
Male: 50
Female: -
Unknown: 50
CNV Size: 600000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
qPCR
Validation Method:
Affymetrix 6.0, qPCR
Platform: Roche LightCycler 480
Software: LightCycler 480 SW 1.5
Algorithm: -
Geographical Ancestry: -
16p11.2
Description:
Autistic cases from Autism Genetic Research Exchange (AGRE)
Diagnosis:
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
Davis LK , et al. (2009)Cohort Size: 36
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 336642
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 250K Nsp, Affymetrix 250K Syt
Software: CNAG v2.0
Algorithm: HMM
Geographical Ancestry: NA
16p11.2
Description:
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
Diagnosis:
ASD (ADI-R and ADOS, Module 3)
Chung BH , et al. (2011)Cohort Size: 1
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 227691
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
-
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.2.1, Birdseed v.2
Algorithm: HMM
Geographical Ancestry: Scottish-Canadian
16p11.2
Description:
Two probands (one male, one female) with 16p11.2 deletions
Diagnosis:
1 patient with developmental delay, 1 patient with autism/autistic features & developmental delay
Ciuladait Z , et al. (2011)Cohort Size: 2
Age Min: 55
Age Max: 84
Average: 69.5
Male: 50
Female: 50
Unknown: -
CNV Size: 542300
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
RT-PCR
Platform: Agilent 105K
Software: Feature Extraction, Genetic Workbench V5.0.14
Algorithm: -
Geographical Ancestry: -
16p11.2
Description:
Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
Diagnosis:
Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
Davis LK , et al. (2012)Cohort Size: 1
Age Min: 144
Age Max: 144
Average: 144
Male: 100
Female: -
Unknown: -
CNV Size: 998252
Deletion: 0
Duplication: 3
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Human 1M-Duo DNA Analysis Bead Chip
Software: CNVision
Algorithm: PennCNV, QuantiSNP, Gnosis
Geographical Ancestry: NA
16p11.2
Description:
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
Diagnosis:
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
Egger G , et al. (2014)Cohort Size: 73
Age Min: 120
Age Max: 120
Average: 120
Male: -
Female: 100
Unknown: -
CNV Size: 290425
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
qPCR
Platform: Affymetrix 6.0
Software: -
Algorithm: Birdsuite, iPattern, Affymetrix Genotyping Console
Geographical Ancestry: 68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
16p11.2
Description:
Samples from the Autism Genome Project (AGP)
Diagnosis:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Engchuan W , et al. (2015)Cohort Size: 1892
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1767484
Deletion: 13
Duplication: 13
Total CNV: 26
Discovery Method:
Solid phase hybridization
Validation Method:
Yes
Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
16p11.2
Description:
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
Diagnosis:
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Du X et al. (2021)Cohort Size: 511
Age Min: 96
Age Max: 168
Average: 144
Male: 67
Female: 33
Unknown: -
CNV Size: 602670
Deletion: 0
Duplication: 5
Total CNV: 5
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina CytoSNP-850Kv1.2 BeadChip
Software: Illumina Genome Studio V2009.2
Algorithm: NA
Geographical Ancestry: United States
16p11.2
Description:
ASD cases collected through multicenter Canadian research team
Diagnosis:
ASD and/or developmental delay
Fernandez BA , et al. (2009)Cohort Size: 6
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 555000
Deletion: 3
Duplication: 3
Total CNV: 6
Discovery Method:
Array SNP, solid phase hybridization
Validation Method:
qPCR, FISH
Platform: Affymetrix 500K, Affymetrix 6.0, Illumina 1M BeadChip
Software: -
Algorithm: dChip, CNAG, GEMCA, Birdsuite, Partek Genomics Suite, Affymetrix Genotyping Console, Quanti-SNP, Penn CNV, iPattern
Geographical Ancestry: Canadian
16p11.2
Description:
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
Diagnosis:
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Deciphering Developmental Disorders Study (2014)Cohort Size: 1133
Age Min: -
Age Max: -
Average: -
Male: 20
Female: 40
Unknown: 40
CNV Size: 664446
Deletion: 1
Duplication: 4
Total CNV: 5
Discovery Method:
aCGH, WES
Validation Method:
None
Platform: Agilent 2x1M, Agilent Exome+
Software: Cnsolidate, CoNVex
Algorithm: -
Geographical Ancestry: UK and Ireland
16p11.2
Description:
Cases with 16p11.2 deletions from the Simons Variation in Individuals Project (Simons VIP) cohort recruited from attendees of the 2013 Simons VIP Connect Family Meeting in Orlando, FL
Diagnosis:
Nine cases met the three American Speech and Hearing Association (ASHS)-based consensus diagnostic criteria for childhood apraxia of speech (CAS); the limited verbal output for the remaining two participants precluded speech diagnosis. Neuropsychological testing using Kaufmann Brief Intelligence Test (KBIT), Peabody Picture Vocabulary Test (PPVT), Test for Reception of Grammar (TROG), rapid automatized naming (RAN), and Bruininks-Oseretsky Test (BOT).
Fedorenko E , et al. (2015)Cohort Size: 11
Age Min: 64
Age Max: 216
Average: 127.90909090909
Male: 73
Female: 27
Unknown: -
CNV Size: 600000
Deletion: 11
Duplication: 0
Total CNV: 11
Discovery Method:
N/A
Validation Method:
N/A
Platform: N/A
Software: N/A
Algorithm: N/A
Geographical Ancestry: N/A
16p11.2
Description:
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
Diagnosis:
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Fry AE , et al. (2016)Cohort Size: 80
Age Min: 84
Age Max: 84
Average: 84
Male: -
Female: 100
Unknown: -
CNV Size: 603000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, solid phase hybridization
Validation Method:
Solid phase hybridization (Illumina), FISH
Platform: Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
Software: Illumina BlueFuse Multi v3.1
Algorithm: PennCNV
Geographical Ancestry: 78 White British, 1 South Asian, 1 Mixed White/South Asian
16p11.2
Description:
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
Diagnosis:
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Fan Y et al. (2018)Cohort Size: 401
Age Min: 42
Age Max: 42
Average: 42
Male: 100
Female: -
Unknown: -
CNV Size: 598000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix CytoScan HD
Software: ChAS
Algorithm: -
Geographical Ancestry: Chinese
16p11.2
Description:
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
Diagnosis:
All cases diagnosed with ASD
Feliciano P et al. (2019)Cohort Size: 465
Age Min: -
Age Max: -
Average: -
Male: 83
Female: 17
Unknown: -
CNV Size: 509380
Deletion: 2
Duplication: 4
Total CNV: 6
Discovery Method:
WES
Validation Method:
None
Platform: Illumina HumanCoreExome 550K
Software: CoNIFER, XHMM
Algorithm: -
Geographical Ancestry: N/A
16p11.2
Description:
Replication case samples derived from AGRE sets 1-3
Diagnosis:
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
Gai X , et al. (2011)Cohort Size: 593
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 761424
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European
16p11.2
Description:
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
Diagnosis:
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Gannon WT , et al. (2011)Cohort Size: 187
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: NA
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Genome-wide oligo array with 44K platform
Software: -
Algorithm: -
Geographical Ancestry: Gulf Coast of Alabama, Mississippi, & Florida
16p11.2
Description:
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
Diagnosis:
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
Girirajan S , et al. (2011)Cohort Size: 336
Age Min: -
Age Max: -
Average: -
Male: 38
Female: 10
Unknown: 53
CNV Size: 583059
Deletion: 15
Duplication: 34
Total CNV: 49
Discovery Method:
aCGH
Validation Method:
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -
16p11.2
Description:
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
Diagnosis:
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Gazzellone MJ , et al. (2014)Cohort Size: 104
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 232162
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
qPCR, Taqman assay
Platform: Affymetrix CytoScan HD
Software: -
Algorithm: ChAS, iPattern, Nexus, Partek
Geographical Ancestry: Han Chinese
16p11.2
Description:
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
Diagnosis:
Developmental delay with or without congenital malformations
Girirajan S , et al. (2012)Cohort Size: 32587
Age Min: 2
Age Max: 264
Average: 93.130434782609
Male: 5
Female: 3
Unknown: 92
CNV Size: 550000
Deletion: 156
Duplication: 111
Total CNV: 267
Discovery Method:
aCGH
Validation Method:
FISH, aCGH, or confirmation by inheritance
Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -
16p11.2
Description:
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
Diagnosis:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Girirajan S , et al. (2013)Cohort Size: 2588
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 850000
Deletion: 6
Duplication: 9
Total CNV: 15
Discovery Method:
aCGH
Validation Method:
aCGH (NimbleGen 135K array)
Platform: Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
Software: Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: NA
16p11.2
Description:
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
Diagnosis:
Developmental delay
Girirajan S , et al. (2013)Cohort Size: 31518
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 850000
Deletion: 64
Duplication: 28
Total CNV: 92
Discovery Method:
N/A
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: NA
16p11.2
Description:
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
Diagnosis:
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
Girirajan S , et al. (2013)Cohort Size: 243
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 455501
Deletion: 10
Duplication: 19
Total CNV: 29
Discovery Method:
aCGH
Validation Method:
aCGH (Agilent hotspot 2x400K)
Platform: Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
Software: -
Algorithm: DNA Copy Number v1.6
Geographical Ancestry: 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
16p11.2
Description:
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
Diagnosis:
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Glessner JT , et al. (2009)Cohort Size: 859
Age Min: -
Age Max: -
Average: -
Male: 45
Female: 9
Unknown: 45
CNV Size: 530464
Deletion: 3
Duplication: 2
Total CNV: 5
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, MLPA, array SNP
Platform: HumanHap550 BeadChip
Software: -
Algorithm: PennCNV
Geographical Ancestry: European
16p11.2
Description:
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
Diagnosis:
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Glessner JT , et al. (2009)Cohort Size: 1336
Age Min: -
Age Max: -
Average: -
Male: 45
Female: 9
Unknown: 45
CNV Size: 530464
Deletion: 7
Duplication: 8
Total CNV: 15
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, MLPA, array SNP
Platform: HumanHap550 BeadChip
Software: -
Algorithm: PennCNV
Geographical Ancestry: European
16p11.2
Description:
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
Diagnosis:
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Griswold AJ , et al. (2012)Cohort Size: 813
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 530464
Deletion: 1
Duplication: 2
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Software: BeadStudio
Algorithm: Penn CNV, QuantiSNP
Geographical Ancestry: Range of self-reported ethnicities (specifics NA)
16p11.2
Description:
ASD cases screened for ~118 kb deletions in the 16p11.2 locus containing the KCTD13 gene
Diagnosis:
Diagnosis of autism or ASD based on meeting ADOS diagnostic criteria
Golzio C , et al. (2012)Cohort Size: 518
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 300000
Deletion: 8
Duplication: 2
Total CNV: 10
Discovery Method:
MLPA, aCGH
Validation Method:
qPCR, aCGH
Platform: ABI 3730xl DNA Analyser (MLPA), custom Nimblegen array (aCGH)
Software: GeneMarker Software Trial Version 1.91 (MLPA), Nimblescan software v2.6
Algorithm: -
Geographical Ancestry: NA
16p11.2
Description:
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
Diagnosis:
Diagnosis of ASD based on DSM-IV-TR criteria
Guo H , et al. (2017)Cohort Size: 546
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1150040
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina 370K or 660K BeadChip
Software: -
Algorithm: PennCNV
Geographical Ancestry: Chinese Han
16p11.2
Description:
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
Diagnosis:
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
Guo H , et al. (2018)Cohort Size: 213
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 760799
Deletion: 6
Duplication: 2
Total CNV: 8
Discovery Method:
WGS
Validation Method:
aCGH, Sanger sequencing
Platform: Illumina HiSeq X Ten
Software: -
Algorithm: dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
Geographical Ancestry: N/A
16p11.2
Description:
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
Diagnosis:
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
Itsara A , et al. (2010)Cohort Size: 1330
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 765304
Deletion: 5
Duplication: 0
Total CNV: 5
Discovery Method:
Solid phase hybridization
Validation Method:
aCGH (custom NimbleGen 12 X 135)
Platform: Illumina HumanHap550v1 and v3 SNP array
Software: Illumina GenomeStudio
Algorithm: HMM
Geographical Ancestry: -
16p11.2
Description:
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
Diagnosis:
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Jiao Q , et al. (2019)Cohort Size: 220
Age Min: 6
Age Max: 11
Average: 8.5
Male: 100
Female: -
Unknown: -
CNV Size: 640000
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
WGS
Validation Method:
None
Platform: Low-coverage whole genome sequencing
Software: Illumina BclToFastq
Algorithm: -
Geographical Ancestry: China
16p11.2
Description:
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
Diagnosis:
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
Husson T , et al. (2020)Cohort Size: 253
Age Min: 84
Age Max: 132
Average: 108
Male: 100
Female: -
Unknown: -
CNV Size: 524274
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
WES
Validation Method:
ddPCR, QMPSF, aCGH
Platform: Illumina HiSeq4000
Software: CANOES
Algorithm: -
Geographical Ancestry: France
16p11.2
Description:
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
Diagnosis:
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Hu C et al. (2022)Cohort Size: 573
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 398360
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Targeted gene panel sequencing
Validation Method:
None
Platform: Illumina HiSeq X10
Software: PICNIC, AnnotSV
Algorithm: CANOES, HMZDelFinder
Geographical Ancestry: China
16p11.2
Description:
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
Diagnosis:
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
Kaminsky EB , et al. (2011)Cohort Size: 15749
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1838140
Deletion: 76
Duplication: 53
Total CNV: 129
Discovery Method:
aCGH
Validation Method:
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
Platform: Agilent 44K, Agilent 105K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: NA
16p11.2
Description:
Autistic male proband recruited by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NIH)
Diagnosis:
Diagnosis of ASD with developmental delay, facial and genital dysmorphisms, and partial resistance to glucocorticoids, thyroid hormones, and possibly androgens.
Kino T , et al. (2012)Cohort Size: 1
Age Min: 84
Age Max: 84
Average: 84
Male: 100
Female: -
Unknown: -
CNV Size: 1100000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH, qPCR
Platform: BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
16p11.2
Description:
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
Diagnosis:
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
Krumm N , et al. (2013)Cohort Size: 411
Age Min: -
Age Max: -
Average: -
Male: 80
Female: 20
Unknown: -
CNV Size: 747661
Deletion: 4
Duplication: 4
Total CNV: 8
Discovery Method:
WES
Validation Method:
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
Platform: Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A
16p11.2
Description:
180 AGRE samples (19 simplex and 161 multiplex). Sample overlap with Weiss et al., 2008 16p11.2 CNV report.
Diagnosis:
ASD
Kumar RA , et al. (2007)Cohort Size: 180
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 13
Unknown: 38
CNV Size: 500000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
FISH, microsatellite analysis, aCGH
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: North American
16p11.2
Description:
230 AGRE (11 simplex and 219 multiplex), 302 NIMH (57 simplex and 245 multiplex). Sample overlap with Weiss et al., 2008 16p11.2 CNV report.
Diagnosis:
ASD
Kumar RA , et al. (2007)Cohort Size: 532
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 13
Unknown: 38
CNV Size: 500000
Deletion: 3
Duplication: 1
Total CNV: 4
Discovery Method:
qPCR
Validation Method:
FISH, microsatellite analysis, aCGH
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: North American
16p11.2
Description:
Participants recruited and consented for a study of pediatric motor speech disorders
Diagnosis:
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Laffin JJ , et al. (2012)Cohort Size: 24
Age Min: 36
Age Max: 36
Average: 36
Male: -
Female: -
Unknown: 100
CNV Size: 568305
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
Software: OGT CytoSure Interpret v.3.4.3
Algorithm: -
Geographical Ancestry: NA
16p11.2
Description:
Probands from the Simons Simplex Collection
Diagnosis:
Diagnosis of ASD
Krumm N , et al. (2015)Cohort Size: 2377
Age Min: -
Age Max: -
Average: -
Male: 72
Female: 24
Unknown: 3
CNV Size: 736162
Deletion: N/A
Duplication: N/A
Total CNV: 24
Discovery Method:
WES
Validation Method:
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A
16p11.2
Description:
Individuals predominantly recruited from the middle of Honshu Island (Japan)
Diagnosis:
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Kushima I , et al. (2018)Cohort Size: 1108
Age Min: 84
Age Max: 684
Average: 367.38461538462
Male: 54
Female: 46
Unknown: -
CNV Size: 911836
Deletion: 1
Duplication: 4
Total CNV: 5
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
16p11.2
Description:
Individuals predominantly recruited from the middle of Honshu Island (Japan)
Diagnosis:
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Kushima I , et al. (2018)Cohort Size: 2458
Age Min: 84
Age Max: 684
Average: 367.38461538462
Male: 54
Female: 46
Unknown: -
CNV Size: 973255
Deletion: 2
Duplication: 4
Total CNV: 6
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
16p11.2
Description:
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
Diagnosis:
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 1205
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 911837
Deletion: 1
Duplication: 4
Total CNV: 5
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
16p11.2
Description:
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
Diagnosis:
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 1818
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 705775
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
16p11.2
Description:
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
Diagnosis:
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 3014
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 773769
Deletion: 1
Duplication: 4
Total CNV: 5
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
16p11.2
Description:
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
Diagnosis:
ASD
Levy D , et al. (2011)Cohort Size: 858
Age Min: -
Age Max: -
Average: -
Male: 71
Female: 29
Unknown: -
CNV Size: 636716
Deletion: 8
Duplication: 5
Total CNV: 13
Discovery Method:
aCGH
Validation Method:
aCGH (Agilent 244K)
Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -
16p11.2
Description:
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
Diagnosis:
Diagnosis according to ADOS and ADI-R
Leppa VM , et al. (2016)Cohort Size: 1764
Age Min: -
Age Max: -
Average: -
Male: 17
Female: 17
Unknown: 67
CNV Size: 757000
Deletion: 3
Duplication: 2
Total CNV: 5
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
Software: GenomeStudio, CNVision
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A
16p11.2
Description:
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
Diagnosis:
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Lee SH and Song WJ (2017)Cohort Size: 42
Age Min: 10
Age Max: 204
Average: 131.33333333333
Male: 67
Female: 33
Unknown: -
CNV Size: 1768026
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix CytoScan 750K
Software: Affymetrix ChAS v.3.2.0.1252
Algorithm: -
Geographical Ancestry: Korean
16p11.2
Description:
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
Diagnosis:
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
Lionel AC , et al. (2013)Cohort Size: 5384
Age Min: 156
Age Max: 156
Average: 156
Male: -
Female: 100
Unknown: -
CNV Size: 487879
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH, array SNP
Validation Method:
None
Platform: Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Software: Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
Algorithm: -
Geographical Ancestry: NA
16p11.2
Description:
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
Diagnosis:
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Mahjani B et al. (2021)Cohort Size: 996
Age Min: -
Age Max: -
Average: -
Male: 80
Female: 20
Unknown: -
CNV Size: 604232
Deletion: 4
Duplication: 1
Total CNV: 5
Discovery Method:
WES
Validation Method:
None
Platform: Infinium OmniExpress Exome
Software: NA
Algorithm: PennCNV
Geographical Ancestry: Sweden
16p11.2
Description:
Patients with ASD whose electronic medical records (EMRs) were queried from April 1, 2015 through March 31, 2020 and who had at least one genetic testing result documented in their chart; study completed at the Children's Neurodevelopmental Center, Hasbro Children's Hospital, Providence, RI.
Diagnosis:
Cases diagnosed with ASD (ICD-10 code F.84), with the majority of diagnoses made using the ADOS-2 followed by CARS.
Karen Lob et al. ()Cohort Size: 523
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 303672
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
CMA
Validation Method:
-
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: United States
16p11.2
Description:
Children diagnosed with developmental delay/intellectual disability at the Children's Medical Center of the Affiliated Hospital of Guangdong Medical University between January 2020 and December 2022.
Diagnosis:
All cases were diagnosed with developmental delay/intellectual disability (DD/ID); additional diagnoses included ASD (11/173, 6.4%) and ADHD (21/173, 12.1%).
Chengyan Li et al. (2024)Cohort Size: 173
Age Min: 30
Age Max: 30
Average: 30
Male: 100
Female: -
Unknown: -
CNV Size: 524611
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WES
Validation Method:
-
Platform: MGISEQ-2000RS
Software: FastQC
Algorithm: Weaver
Geographical Ancestry: China
16p11.2
Description:
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
Diagnosis:
ASD
Marshall CR , et al. (2008)Cohort Size: 427
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 675829
Deletion: 2
Duplication: 2
Total CNV: 4
Discovery Method:
Array SNP, karotyping
Validation Method:
qPCR, qmPCR
Platform: Affymetrix 500K
Software: -
Algorithm: dChip, CNAG, GEMCA
Geographical Ancestry: 90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
16p11.2
Description:
Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.
Diagnosis:
Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases
Mak ASL , et al. (2017)Cohort Size: 258
Age Min: 18
Age Max: 18
Average: 18
Male: 100
Female: -
Unknown: -
CNV Size: 560000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: NimbleGen CGX-135K or Agilent-CGX 60K
Software: -
Algorithm: -
Geographical Ancestry: Chinese
16p11.2
Description:
ASD patients from AGRE (692), Columbia Univ. (32), Inst. Child Health (28), NIMHAU (49), North Shore Univ. .Hospital (10), Trinity College Dublin (60), and Vanderbilt Univ. (63)
Diagnosis:
ASD
McCarthy SE , et al. (2009)Cohort Size: 934
Age Min: -
Age Max: -
Average: -
Male: 63
Female: 37
Unknown: -
CNV Size: 684197
Deletion: 7
Duplication: 4
Total CNV: 11
Discovery Method:
aCGH, array SNP
Validation Method:
aCGH (Nimble HD2)
Platform: ROMA 85K, Nimble HD2, Affymetrix 500K
Software: -
Algorithm: -
Geographical Ancestry: -
16p11.2
Description:
Bipolar disorder patients from GEM (161), WTCCC (1697), and GAIN (1457)
Diagnosis:
Bipolar disorder
McCarthy SE , et al. (2009)Cohort Size: 3315
Age Min: -
Age Max: -
Average: -
Male: 63
Female: 37
Unknown: -
CNV Size: 600000
Deletion: 0
Duplication: 4
Total CNV: 4
Discovery Method:
aCGH, array SNP
Validation Method:
aCGH (Agilent 244A), array SNP (Affymetrix 500K)
Platform: ROMA 85K, Nimble HD2, Affymetrix 5.0
Software: -
Algorithm: -
Geographical Ancestry: -
16p11.2
Description:
Patients from Cardiff Univ. (471), CATIE (738), Columbia (19), McLean Hospital (161), NIMH (83), New York Univ. (259), & Univ. Washington (175)
Diagnosis:
Schizophrenia
McCarthy SE , et al. (2009)Cohort Size: 1906
Age Min: -
Age Max: -
Average: -
Male: 63
Female: 37
Unknown: -
CNV Size: 600000
Deletion: 1
Duplication: 12
Total CNV: 13
Discovery Method:
aCGH, array SNP
Validation Method:
aCGH (Nimble HD2, Agilent 244K)
Platform: ROMA 85K, Nimble HD2, Affymetrix 500K
Software: -
Algorithm: -
Geographical Ancestry: -
16p11.2
Cohort Size: 2645
Age Min: -
Age Max: -
Average: -
Male: 63
Female: 37
Unknown: -
CNV Size: 600000
Deletion: 0
Duplication: 9
Total CNV: 9
Discovery Method:
Array SNP
Validation Method:
aCGH (Nimble HD2)
Platform: Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: 53.1% European American, 46.9% African American
16p11.2
Description:
SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
Diagnosis:
Diagnosis of schizophrenia based on meeting DSM-IV citeria
Mulle JG , et al. (2013)Cohort Size: 554
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 874089
Deletion: 0
Duplication: 4
Total CNV: 4
Discovery Method:
Array SNP
Validation Method:
Solid phase hybridization
Platform: Affymetrix 6.0
Software: Affymetrix power tools software v1.12.0
Algorithm: GLAD, GADA, BEAST
Geographical Ancestry: Ashkenazi Jewish
16p11.2
Description:
ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
Diagnosis:
ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
Moreira DP , et al. (2014)Cohort Size: 531
Age Min: 60
Age Max: 252
Average: 165.6
Male: 80
Female: 20
Unknown: -
CNV Size: 824000
Deletion: 1
Duplication: 4
Total CNV: 5
Discovery Method:
MLPA
Validation Method:
Array SNP
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: Ethnically-mixed Brazilian
16p11.2
Description:
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
Diagnosis:
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Mosca SJ , et al. (2016)Cohort Size: 82
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 617816
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina HumanOmni2.5-Quad BeadChip
Software: -
Algorithm: iPattern, PennCNV, QuantiSNP, CNVPartition
Geographical Ancestry: Canada
16p11.2
Description:
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
Diagnosis:
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
Munnich A , et al. (2019)Cohort Size: 502
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 592000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, karyotyping
Validation Method:
FISH
Platform: Agilent 60K
Software: -
Algorithm: -
Geographical Ancestry: France
16p11.2
Description:
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
Diagnosis:
Cases were clinically diagnosed with ASD based on DSM-V.
Miyake N et al. (2023)Cohort Size: 405
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 555197
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Exome sequencing
Validation Method:
qPCR
Platform: Illumina HiSeq 2000/2500
Software: XHMM
Algorithm: NA
Geographical Ancestry: Japan
16p11.2
Description:
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
Diagnosis:
ASD/autism
O'Roak BJ , et al. (2012)Cohort Size: 122
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 604414
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
WES
Validation Method:
aCGH, Sanger sequencing
Platform: NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
Software: mrsFAST aligner
Algorithm: HMM
Geographical Ancestry: NA
16p11.2
Description:
Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
Diagnosis:
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
Newbury DF , et al. (2012)Cohort Size: 1
Age Min: 168
Age Max: 168
Average: 168
Male: 100
Female: -
Unknown: -
CNV Size: 546352
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 244K
Software: Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
Algorithm: -
Geographical Ancestry: European (Caucasian)
16p11.2
Description:
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
Diagnosis:
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
Nguyen LS , et al. (2013)Cohort Size: 57365
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 259998
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
N/A
Platform: SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
Software: -
Algorithm: -
Geographical Ancestry: N/A
16p11.2
Description:
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
Diagnosis:
Cases assessed with ADI-R
Nava C , et al. (2013)Cohort Size: 194
Age Min: 90
Age Max: 235
Average: 160.5
Male: 100
Female: -
Unknown: -
CNV Size: 694000
Deletion: 0
Duplication: 4
Total CNV: 4
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
Software: GenomeStudio v.2011.1, CNVPartition v.3.1.6
Algorithm: -
Geographical Ancestry: France
16p11.2
Description:
Second child of healthy non-consanguineous parents with no relevant family history with some features reminiscent of juvenile neuronal ceroid-lipofuscinosis (JNCL) or Batten disease (OMIM 204200)
Diagnosis:
Developmental delay, retinis pigmentosa with progressive visual failure, ataxia, peripheral neuropathy, and behavioral difficulties
Pebrel-Richard C , et al. (2013)Cohort Size: 1
Age Min: 192
Age Max: 192
Average: 192
Male: 100
Female: -
Unknown: -
CNV Size: 1700000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH
Platform: Agilent 180K
Software: Feature Extraction 10.5, DNA Analytics 4.0.76
Algorithm: ADM-2
Geographical Ancestry: France
16p11.2
Description:
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
Diagnosis:
Cases assessed for ASD according to DSM-IV behavioral criteria
Oikonomakis V , et al. (2016)Cohort Size: 195
Age Min: 60
Age Max: 72
Average: 66
Male: 100
Female: -
Unknown: -
CNV Size: 545500
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
Software: -
Algorithm: -
Geographical Ancestry: Greece
16p11.2
Description:
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
Diagnosis:
Neurodevelopmental disorders
Pfundt R , et al. (2016)Cohort Size: 1215
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1944227
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
WES
Validation Method:
Array SNP (Affymetrix CytoScan HD)
Platform: Solid5500xl, IlluminaHiSeq2000
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A
16p11.2
Description:
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
Diagnosis:
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
Pinto D , et al. (2010)Cohort Size: 996
Age Min: -
Age Max: -
Average: -
Male: 67
Female: 33
Unknown: -
CNV Size: 985714
Deletion: 6
Duplication: 3
Total CNV: 9
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP, iPattern
Geographical Ancestry: European
16p11.2
Description:
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
Diagnosis:
Cases classified according to ADOS and ADI-R
Pinto D , et al. (2014)Cohort Size: 1359
Age Min: 100
Age Max: 104
Average: 102
Male: 100
Female: -
Unknown: -
CNV Size: 680461
Deletion: 4
Duplication: 2
Total CNV: 6
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, MLPA, long-range PCR
Platform: Illumina 1M (v.1 and v.3)
Software: -
Algorithm: -
Geographical Ancestry: Predominantly European
16p11.2
Description:
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
Diagnosis:
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Picinelli C , et al. (2016)Cohort Size: 6
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1387425
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent SurePrint G3 4x180K
Software: Agilent Cytogenomic Software v2.7
Algorithm: ADM-2
Geographical Ancestry: Italy
16p11.2
Description:
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
Diagnosis:
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
Pfundt R , et al. (2016)Cohort Size: 1430
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1040748
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WES
Validation Method:
None
Platform: Solid5500xl, IlluminaHiSeq2000
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A
16p11.2
Description:
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
Diagnosis:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
Prasad A , et al. (2013)Cohort Size: 676
Age Min: -
Age Max: -
Average: -
Male: 78
Female: 22
Unknown: -
CNV Size: 868405
Deletion: 4
Duplication: 5
Total CNV: 9
Discovery Method:
aCGH
Validation Method:
qPCR
Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada
16p11.2
Description:
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
Diagnosis:
Cases diagnosed with ASD
Poultney CS , et al. (2013)Cohort Size: 299
Age Min: -
Age Max: -
Average: -
Male: 55
Female: 45
Unknown: -
CNV Size: 524852
Deletion: 3
Duplication: 3
Total CNV: 6
Discovery Method:
WES
Validation Method:
None
Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European
16p11.2
Description:
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
Diagnosis:
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Quintela I , et al. (2017)Cohort Size: 573
Age Min: 24
Age Max: 180
Average: 109.2
Male: 60
Female: 40
Unknown: -
CNV Size: 908430
Deletion: 4
Duplication: 6
Total CNV: 10
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Software: Affymetrix ChAS v.1.2.2
Algorithm: -
Geographical Ancestry: North West Spain
16p11.2
Description:
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
Diagnosis:
ASD
Rosenfeld JA , et al. (2010)Cohort Size: 1461
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 508538
Deletion: 5
Duplication: 2
Total CNV: 7
Discovery Method:
aCGH
Validation Method:
FISH
Platform: BACs aCGH, whole-genome oligo-aCGH
Software: -
Algorithm: -
Geographical Ancestry: -
16p11.2
Description:
Patients recruited and consented for a study of pediatric motor speech disorders
Diagnosis:
Childhood apraxia of speech (CAS). Patients assessed using the Madison Speech Assessment Protocol (MSAP). Case 1 reportedly has social difficulties (autistic features), case 2 has ADHD.
Raca G , et al. (2012)Cohort Size: 2
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 562000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
FISH
Platform: Roche NimbleGen custom-designed array, Agilent 180K custom array
Software: NimbleScan, SignalMap
Algorithm: -
Geographical Ancestry: NA
16p11.2
Description:
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
Diagnosis:
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
Sajan SA , et al. (2013)Cohort Size: 487
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 803464
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
Solid phase hybridization
Validation Method:
None (not tested or failure to confirm by qPCR)
Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian
16p11.2
Description:
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
Diagnosis:
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Roberts JL , et al. (2013)Cohort Size: 215
Age Min: 9
Age Max: 312
Average: 160.5
Male: 100
Female: -
Unknown: -
CNV Size: 726000
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
BACs aCGH or FISH
Platform: 105K or 180K oligonucleotide microarray
Software: Nexus Copy Number (BioDiscovery)
Algorithm: -
Geographical Ancestry: N/A
16p11.2
Description:
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
Diagnosis:
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
Reinthaler EM , et al. (2014)Cohort Size: 281
Age Min: -
Age Max: -
Average: -
Male: 43
Female: 43
Unknown: 14
CNV Size: 600000
Deletion: 0
Duplication: 5
Total CNV: 5
Discovery Method:
Solid phase hybridization
Validation Method:
qRT-PCR, aCGH
Platform: Illumina HumanOmniExpress BeadChip
Software: Illumina Genome Viewer
Algorithm: PennCNV
Geographical Ancestry: Caucasian
16p11.2
Description:
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada
Diagnosis:
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 109 cases with rolandic epilepsy, 3 cases with atypical rolandic epilepsy.
Reinthaler EM , et al. (2014)Cohort Size: 112
Age Min: -
Age Max: -
Average: -
Male: 43
Female: 43
Unknown: 14
CNV Size: 600000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
qRT-PCR
Platform: Illumina HumanOmniExpress BeadChip
Software: Illumina Genome Viewer
Algorithm: PennCNV
Geographical Ancestry: Caucasian
16p11.2
Description:
Unrelated individuals with exonic CNVs involving the CNTN6 gene from an initial cohort of 6,200 patients referred to Children's Mercy Hospital and 14,026 patients referred to Nationwide Children's Hospital for microarray testing from 2008 to 2015
Diagnosis:
The most frequently observed phenotypes in this cohort were developmental delay (9 patients), ASD (diagnosis based on DSM-IV criteria in seven patients), and ADHD (six patients).
Repnikova EA , et al. (2019)Cohort Size: 19
Age Min: 21
Age Max: 21
Average: 21
Male: 100
Female: -
Unknown: -
CNV Size: 535234
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, array SNP
Validation Method:
None
Platform: Roche NimbleGen 135K, Agilent CGH+SNP 135K, OGT 4x180K ISCA v2, Affymetrix Cytoscan HD
Software: Agilent CGH analytics v.3.4.40, Agilent Feature Extraction v.9.5.1, Agilent DNA Analytics v.4.0.91,
Algorithm: -
Geographical Ancestry: N/A
16p11.2
Description:
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
Diagnosis:
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Sanders SJ , et al. (2011)Cohort Size: 1124
Age Min: -
Age Max: -
Average: -
Male: 70
Female: 30
Unknown: -
CNV Size: 736720
Deletion: 65
Duplication: 109
Total CNV: 174
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina 1M v1, Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
16p11.2
Description:
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
Diagnosis:
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
Sebat J , et al. (2007)Cohort Size: 195
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 502574
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
ROMA
Validation Method:
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
Platform: -
Software: S-PLUS
Algorithm: HMM
Geographical Ancestry: -
16p11.2
Description:
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
Diagnosis:
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
Shen Y , et al. (2010)Cohort Size: 848
Age Min: -
Age Max: -
Average: -
Male: 83
Female: 17
Unknown: -
CNV Size: 679000
Deletion: 5
Duplication: 1
Total CNV: 6
Discovery Method:
aCGH, array SNP
Validation Method:
None
Platform: Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
Software: CGH Analytics, DNA Analytics software
Algorithm: BRLMM, CNAT4, Partek Genomic Suite
Geographical Ancestry: -
16p11.2
Description:
Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska
Diagnosis:
Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.
Schaefer GB , et al. (2010)Cohort Size: 68
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: NA
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
FISH
Validation Method:
aCGH
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: -
16p11.2
Description:
Father and son from a three-generation Chinese family with ASD and language delay.
Diagnosis:
Diagnosis of ASD based upon DSM-IV criteria.
Shen Y , et al. (2011)Cohort Size: 2
Age Min: 144
Age Max: 492
Average: 318
Male: 100
Female: -
Unknown: -
CNV Size: 605817
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
-
Platform: Agilent 244K
Software: DNA Analytics
Algorithm: -
Geographical Ancestry: Chinese
16p11.2
Description:
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
Diagnosis:
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
Shin S , et al. (2015)Cohort Size: 96
Age Min: 84
Age Max: 84
Average: 84
Male: 50
Female: 50
Unknown: -
CNV Size: 1990000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix CytoScan 750K
Software: Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Algorithm: -
Geographical Ancestry: Korean
16p11.2
Description:
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
Diagnosis:
All cases fulfilled DSM-V criteria for autism
Soueid J , et al. (2016)Cohort Size: 41
Age Min: -
Age Max: -
Average: -
Male: 25
Female: -
Unknown: 75
CNV Size: 795000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon
16p11.2
Description:
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
Diagnosis:
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Sansovi I , et al. (2017)Cohort Size: 337
Age Min: 120
Age Max: 180
Average: 150
Male: 50
Female: 50
Unknown: -
CNV Size: 517000
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent SurePrint G3 Unrestricted CGH ISCA v2
Software: Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
Algorithm: -
Geographical Ancestry: Croatia
16p11.2
Description:
Patients who had undergone exome sequencing and were partially analyzed with next-generation phenotyping approaches enrolled in the TRANSLATE NAMSE prospective study at ten German university hospitals.
Diagnosis:
The majority of children were assigned to the disease category neurodevelopmental disorders (n=702, 54%); patient phenotypes were also annotated with terms of the Human Phenotype Ontology (HPO) by the respective CRD physicians.
Axel Schmidt et al. (2024)Cohort Size: 1577
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 2799426
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, Exome sequencing
Validation Method:
-
Platform: Illumina HiSeq 2500 or NovaSeq 6000
Software: ExomeDepth v1.1.10, ClinCNV v1.16.1
Algorithm: -
Geographical Ancestry: Germany
16p11.2
Description:
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
Diagnosis:
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Tabet AC , et al. (2012)Cohort Size: 3
Age Min: 252
Age Max: 252
Average: 252
Male: 100
Female: -
Unknown: -
CNV Size: 847000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina HumanCNV370-Duo BeadChip
Software: BeadStudio v3.2
Algorithm: CNVPartition v3.1.1, Penn CNV
Geographical Ancestry: Mixed ethnic background (father Caucasian, mother from Mauritius)
16p11.2
Description:
Patients with infantile spasms assessed at Wayne State University (Detroit, MI, USA)
Diagnosis:
Epilepsy (infantile spasms). Additional phenotypic features: developmental delay, autistic features, hypotonia/ataxia, and dysmorphic features.
Tiwari VN , et al. (2012)Cohort Size: 13
Age Min: 24
Age Max: 24
Average: 24
Male: -
Female: 100
Unknown: -
CNV Size: 595365
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 610Quad
Software: Illumina BeadStudio, SVS
Algorithm: SVS
Geographical Ancestry: NA
16p11.2
Description:
Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
Diagnosis:
Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
Stobbe G , et al. (2013)Cohort Size: 36
Age Min: 240
Age Max: 240
Average: 240
Male: 100
Female: -
Unknown: -
CNV Size: 535000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: NimbleGen CGX-3v1.0
Software: NimbleScan 2.5, DNA Analytics 4.0
Algorithm: ADM-1
Geographical Ancestry: N/A
16p11.2
Description:
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
Diagnosis:
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
Tammimies K , et al. (2015)Cohort Size: 258
Age Min: 156
Age Max: 156
Average: 156
Male: 50
Female: 50
Unknown: -
CNV Size: 754025
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
Software: Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
Algorithm: QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Geographical Ancestry: Canada
16p11.2
Description:
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
Diagnosis:
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
Soueid J , et al. (2016)Cohort Size: 35
Age Min: -
Age Max: -
Average: -
Male: 25
Female: -
Unknown: 75
CNV Size: 306000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon
16p11.2
Description:
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
Diagnosis:
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Tropeano M , et al. (2016)Cohort Size: 90
Age Min: 240
Age Max: 240
Average: 240
Male: 100
Female: -
Unknown: -
CNV Size: 524646
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
MLPA, aCGH
Platform: Agilent 60K
Software: Agilent Feature Extraction, Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: United Kingdom
16p11.2
Description:
ASD probands from 22 families (20 trios, 1 quad with two affected siblings, and 1 quad with an affected proband and his unaffected fraternal twin) with recent shared ancestry that were recruited either from Jordan or from the Dallas/Fort Worth area.
Diagnosis:
Cases diagnosed with ASD based on standard autism diagnostic measures (ADOS, ADI-R, DSM-V)
Tuncay IO et al. (2022)Cohort Size: 23
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 797829
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
WGS
Validation Method:
-
Platform: Illumina HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: Predominantly Middle Eastern, South Asian, and European
16p11.2
Description:
AGRE: ASD case subjects from 751 families
Diagnosis:
1252 cases diagnosed with autism, 123 with broad spectrum autism, 66 with NQA (not quite autism)
Weiss LA , et al. (2008)Cohort Size: 1441
Age Min: 24
Age Max: 108
Average: 68.571428571429
Male: 75
Female: 25
Unknown: -
CNV Size: 593000
Deletion: 5
Duplication: 7
Total CNV: 12
Discovery Method:
Array SNP
Validation Method:
MLPA
Platform: Affymetrix 5.0
Software: Affymetrix CNAT v.4.0
Algorithm: COPPER, Birdseye
Geographical Ancestry: -
16p11.2
Cohort Size: 299
Age Min: 24
Age Max: 108
Average: 68.571428571429
Male: 75
Female: 25
Unknown: -
CNV Size: 593000
Deletion: 3
Duplication: 0
Total CNV: 0
Discovery Method:
Solid phase hybridization
Validation Method:
-
Platform: HumanHap300 BeadChip
Software: -
Algorithm: HMM
Geographical Ancestry: Icelandic
16p11.2
Description:
Patients with DD, MR, or ASD referred by Children's Hospital, Boston
Diagnosis:
Children with developmental delay, mental retardation, and/or autism spectrum disorder without noted dysmorphic features
Weiss LA , et al. (2008)Cohort Size: 512
Age Min: 24
Age Max: 108
Average: 68.571428571429
Male: 75
Female: 25
Unknown: -
CNV Size: 593000
Deletion: 5
Duplication: 4
Total CNV: 9
Discovery Method:
aCGH
Validation Method:
MLPA, FISH
Platform: Agilent 244K
Software: CGH Analytic Software v3.4
Algorithm: ADM-2
Geographical Ancestry: -
16p11.2
Cohort Size: 1158
Age Min: 41
Age Max: 41
Average: 41
Male: 100
Female: -
Unknown: -
CNV Size: 1180482
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
Software: -
Algorithm: -
Geographical Ancestry: Canadian
16p11.2
Description:
Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
Diagnosis:
Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.
Van Den Bossche MJ , et al. (2012)Cohort Size: 676
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 458000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 264 from Belgium, 305 from Sweden, 107 from Scotland
16p11.2
Description:
Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.
Diagnosis:
Intellectual disability (ID). Cases with total IQ<70 met definition of ID.
Van Den Bossche MJ , et al. (2012)Cohort Size: 260
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 0
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland
16p11.2
Description:
Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
Diagnosis:
Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.
Van Den Bossche MJ , et al. (2012)Cohort Size: 169
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 0
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland
16p11.2
Description:
Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
Diagnosis:
Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.
Van Den Bossche MJ , et al. (2012)Cohort Size: 1281
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 620000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
MAQ
Validation Method:
None
Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 170 from Belgium, 543 from Sweden, 568 from Scotland
16p11.2
Description:
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
Diagnosis:
ASD
Wenger TL , et al. (2016)Cohort Size: 62
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 530466
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina HumanHap 550 or Illumina Human610-Quad v1.0
Software: -
Algorithm: PennCNV
Geographical Ancestry: N/A
16p11.2
Description:
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
Diagnosis:
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Wolfe K , et al. (2016)Cohort Size: 202
Age Min: 228
Age Max: 744
Average: 388.8
Male: 40
Female: 60
Unknown: -
CNV Size: 748579
Deletion: 1
Duplication: 4
Total CNV: 5
Discovery Method:
aCGH
Validation Method:
qPCR, FISH, QF-PCR
Platform: Nimblegen 135K
Software: -
Algorithm: -
Geographical Ancestry: 74% White British
16p11.2
Description:
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
Diagnosis:
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Verberne EA et al. (2022)Cohort Size: 331
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 217847
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
CMA
Validation Method:
None
Platform: NA
Software: NA
Algorithm: NA
Geographical Ancestry: Dutch Caribbean
16p11.2
Description:
ASD probands from 116 families (89 simplex, 25 multiplex, and two monozygotic twin pairs) recruited by UOSI Disturbi dello Spettro Autistico (IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy)
Diagnosis:
Cases clinically diagnosed with ASD according to DSM-5 criteria and assessed using ADOS-2 and CARS-2.
Marta Viggiano et al. (2024)Cohort Size: 144
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 604231
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP, WGS
Validation Method:
-
Platform: Illumina Infinium PsychArray
Software: Canvas
Algorithm: PennCNV, QuantiSNP, CNVPartition
Geographical Ancestry: Italy
16p11.2
Description:
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
Diagnosis:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Yin CL , et al. (2016)Cohort Size: 335
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 600139
Deletion: 1
Duplication: 4
Total CNV: 5
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
16p11.2
Description:
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
Diagnosis:
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Xu Q , et al. (2016)Cohort Size: 115
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 660000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, array SNP
Validation Method:
None
Platform: BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Software: Affymeytrix Genotyping Console v3.0.2
Algorithm: -
Geographical Ancestry: N/A
16p11.2
Description:
ASD probands referred to the Clinical Genetics Service for genetic testing
Diagnosis:
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Xie Y , et al. (2017)Cohort Size: 64
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 577588
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
Platform: Affymetrix CytoScan HD
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Chinese
16p11.2
Description:
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
Diagnosis:
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Yap CX et al. (2021)Cohort Size: 723
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 212182
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Global Screening Array v1 and v2
Software: GenomeStudio v.2.0.4
Algorithm: PennCNV, iPattern
Geographical Ancestry: Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
16p11.2
Description:
Patients with clinical indication of ASD out of 6680 consecutive clinical referred diagnostic cases subjected to aCGH analysis.
Diagnosis:
ASD
Yu Y , et al. (2011)Cohort Size: 2200
Age Min: 13
Age Max: 252
Average: 103.78571428571
Male: 54
Female: 46
Unknown: -
CNV Size: 600000
Deletion: 10
Duplication: 0
Total CNV: 10
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 244K
Software: Nexus V5
Algorithm: -
Geographical Ancestry: NA
16p11.2
Description:
Patients with no clinical indication of ASD out of 6680 consecutive clinical referred diagnostic cases subjected to aCGH analysis.
Diagnosis:
Developmental delay and intellectual disability and/or dysmorphism or mulitple congenital anomalies
Yu Y , et al. (2011)Cohort Size: 4480
Age Min: 13
Age Max: 252
Average: 103.78571428571
Male: 54
Female: 46
Unknown: -
CNV Size: 600000
Deletion: 18
Duplication: 0
Total CNV: 18
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 244K
Software: Nexus V5
Algorithm: -
Geographical Ancestry: NA
16p11.2
Description:
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
Diagnosis:
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
C Yuen RK et al. (2017)Cohort Size: 2626
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 858999
Deletion: 2
Duplication: 2
Total CNV: 4
Discovery Method:
WGS
Validation Method:
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Platform: Complete Genomics, Illumina HiSeq 2000, HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Case Details
Show all Cohort Details
ahn_13_SCZ_discovery_cases-NSB_ID2011
Clinical Profile:
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
Cognitive Profile:
IQ 70
Ahn K , et al. (2013)Primary Diagnosis: Schizophrenia
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29863614
CNV End: 30308986
CNV Size: 445373
Validation Description: Validation based on familial presence of CNV
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
ahn_13_SCZ_discovery_cases-NSB_ID676
Clinical Profile:
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
Cognitive Profile:
IQ 70
Ahn K , et al. (2013)Primary Diagnosis: Schizophrenia
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29584162
CNV End: 30188484
CNV Size: 604323
Validation Description: Validation based on familial presence of CNV
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
akter_24_ASD/ADHD/DD/ID_discovery_cases-case114
Clinical Profile:
Developmental milestones: delayed speech and language development (HP:0000750), global developmental delay (HP:0001263). Epilepsy/seizures: seizure (HP:0001250). Dysmorphic features: abnormal facial shape (HP:0001999). Growth parameters: head circumference 53 cm, height 120 cm, weight 29 kg.
Cognitive Profile:
Intellectual disability (HP:0001249)
Hosneara Akter et al. ()Primary Diagnosis: Developmental delay, intellectual disability, and seizures
Age: 6.1 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584162
CNV End: 30197199
CNV Size: 613038
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, SMG1P2, SLX1A, ZG16, BOLA2B, KIF22, MAZ, SLX1A-SULT1A3, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case09DG00498
Clinical Profile:
Developmental delay, failure to thrive, right radial ray defect with pedunculated thumb, wide-based gait (Chr16p11.2 microdeletion syndrome). Non-consanguineous parents.
Cognitive Profile:
Developmental delay
Al-Qattan SM , et al. (2014)Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29611436
CNV End: 30166595
CNV Size: 555160
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG2239
Clinical Profile:
Speech and gross motor delay, oromotor dyspraxia, failure to thrive, post axial polydactyly of left hand, poor dentition (Chr16p11.2 microdeletion syndrome). Non-consanguineous parents.
Cognitive Profile:
Developmental delay
Al-Qattan SM , et al. (2014)Primary Diagnosis: Developmental delay
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29683670
CNV End: 30179355
CNV Size: 495686
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0756
Clinical Profile:
Developmental delay with morbid obesity, acanthosis nigricans, and clinodactyly (Chr16p11.2 microdeletion syndrome). Non-consanguineous parents.
Cognitive Profile:
Developmental delay
Al-Qattan SM , et al. (2014)Primary Diagnosis: Developmental delay
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29617340
CNV End: 30166595
CNV Size: 549256
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
akter_24_ASD/ADHD/DD/ID_discovery_cases-case549
Clinical Profile:
Developmental milestones: delayed speech and language development (HP:0000750), global developmental delay (HP:0001263). Growth parameters: head circumference 47 cm, height 82 cm, weight 11 kg.
Cognitive Profile:
-
Hosneara Akter et al. ()Primary Diagnosis: Developmental delay
Age: 2.9 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584162
CNV End: 30194724
CNV Size: 610563
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, SMG1P2, SLX1A, ZG16, BOLA2B, KIF22, MAZ, SLX1A-SULT1A3, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
bartnik_12_EP_discovery_cases-case10
Clinical Profile:
Age of onset of epilepsy: 17 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy. Parental phenotype: normal.
Cognitive Profile:
Normal IQ
Bartnik M , et al. (2012)Primary Diagnosis: Epilepsy
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29613442
CNV End: 30186020
CNV Size: 572579
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: -
Genome Build: GRCh38
Gene Content: SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
bena_13_ASD/DD/ID_discovery_cases-case20
Primary Diagnosis: Developmental delay
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581178
CNV End: 30281178
CNV Size: 700001
Validation Description: FISH, MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
bassuk_13_ID/EP_discovery_cases-case1
Clinical Profile:
Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: affected sister (bassuk_13_ID/EP_discovery_cases-case2) and mother (bassuk_13_ID/EP_discovery_cases-case3) also carry 16p11.2 deletion; reportedly unaffected father (deceased) and maternal grandparents.
Cognitive Profile:
Intellectual disability; Stanford-Binet IQ: 60
Ulrich HD (2013)Primary Diagnosis: Intellectual disability and epilepsy
Age: N/A
Gender: M
Primary Disorder Inheritence: Maternal
Family Profile: Multi-generational
CNV Start: 29581178
CNV End: 30281178
CNV Size: 700001
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
bassuk_13_ID/EP_discovery_cases-case2
Clinical Profile:
Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: affected brother (bassuk_13_ID/EP_discovery_cases-case1) and mother (bassuk_13_ID/EP_discovery_cases-case3) also carry 16p11.2 deletion; reportedly unaffected father (deceased) and maternal grandparents.
Cognitive Profile:
Intellectual disability; Stanford-Binet IQ: 64
Ulrich HD (2013)Primary Diagnosis: Intellectual disability and epilepsy
Age: N/A
Gender: F
Primary Disorder Inheritence: Maternal
Family Profile: Multi-generational
CNV Start: 29581178
CNV End: 30281178
CNV Size: 700001
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
bassuk_13_ID/EP_discovery_cases-case3
Clinical Profile:
Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: two affected children (bassuk_13_ID/EP_discovery_cases-case1 and bassuk_13_ID/EP_discovery_cases-case2), both of whom inherited 16p11.2 deletion; reportedly unaffected parents (mother negative for 16p11.2 deletion, father N/A).
Cognitive Profile:
Intellectual disability; Stanford-Binet IQ: 80
Ulrich HD (2013)Primary Diagnosis: Intellectual disability and epilepsy
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: 29581178
CNV End: 30281178
CNV Size: 700001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
asadollahi_14_NDD_discovery_cases-case64717
Primary Diagnosis: Developmental delay
Age: 6 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29676124
CNV End: 30119232
CNV Size: 443109
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
beunders_13_DD/ID/ASD_discovery_cases-case17
Clinical Profile:
Clinical profile: N/A
Cognitive Profile:
Cognitive profile: N/A
Beunders G , et al. (2013)Primary Diagnosis: DD/ID and/or MCA
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28822115
CNV End: 29034963
CNV Size: 212849
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
brandler_18_ASD_discovery_cases-caseMT_86.3
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29540630
CNV End: 30209129
CNV Size: 668500
Validation Description: PCR or SNP data validation (SNP VCF)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
bremer_11_ASD_discovery_cases-case5
Primary Diagnosis: ASD
Age: 6
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29581462
CNV End: 30321260
CNV Size: 739799
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
bremer_11_ASD_discovery_cases-case6
Clinical Profile:
Non-syndromic ASD, sporadic case
Cognitive Profile:
MR (IQ<70)
Bremer A , et al. (2011)Primary Diagnosis: ASD
Age: 14
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29581462
CNV End: 30321260
CNV Size: 739799
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
celestino-soper_11_ASD_discovery_cases-11378
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32665436
CNV End: 33492657
CNV Size: 827222
Validation Description: aCGH (Agilent 4x180K or 8x60K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, HERC2P5
breckpot_16_ID/catatonia_discovery_cases-case4
Clinical Profile:
Case met DSM-5 criteria for catatonia (symptoms included waxy flexibility, posturing, mannerisms, stereotypies, echolaila, rigidity, ambitendence, perseveration, resistance, and tremor). Behavioral/psychiatric evaluation: schizophrenia. Epilepsy/seizures: epilepsy. Dysmorphic features: brachycephaly, relative macrocrania, hypertelorism, broad face, wide mouth, double hair whorl. Additional medical history: dolichocolon, neuro-syphilis, parkinsonism, acoustic neuroma left.
Cognitive Profile:
Moderate intellectual disability (IQ 55)
Breckpot J , et al. (2016)Primary Diagnosis: Intellectual disability and catatonia
Age: N/A (adult)
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29581470
CNV End: 30182285
CNV Size: 600816
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
chan_22_ASD_discovery_cases-case3-0133-000
Clinical Profile:
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Developmental milestones: normal early motor milestones with speech delay. Dysmorphic features: decreased upper segment/lower segment ratio, smooth philtrum. Growth parameters: height 5th %ile, weight <5th %ile, low body mass index (13.8). Family history: mother with 16p11.2 duplication does not have ASD.
Cognitive Profile:
-
Chan AJS et al. (2022)Primary Diagnosis: ASD and developmental delay
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29431680
CNV End: 30295679
CNV Size: 864000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, SLX1B, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, NPIPB12, CDIPTOSP, SMG1P2, SMG1P5, BOLA2, SULT1A4, NPIPB13, SLX1A, ZG16, BOLA2B, KIF22, MAZ, SMG1P6, SLX1A-SULT1A3, SLX1B-SULT1A4, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SULT1A3, SPN, TBX6, RN7SKP127, CORO1A-AS1, BOLA2-SMG1P6, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
chan_22_ASD_discovery_cases-case3-0269-000
Clinical Profile:
Case diagnosed with autism spectrum disorder at 3 years 2 months (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: premature birth (born at 28+3 weeks gestation), umbilical hernia requiring repair noted at birth. Language and communication evaluation: non-verbal at 6 years 7 months. Motor and musculoskeletal history: spastic cerebral palsy diagnosed at 14 months. Dysmorphic features: frontal cowlick with double hair whorl, tall broad forehead, ocular hypertelorism, hypoplastic midface, anteverted nares, smooth philtrum, wide mouth, posteriorly rotated ears, clinodactyly of fifth fingers. Growth parameters: body mass index 14.9 (25th-50th %ile). Family history: mother does not have ASD but does have intellectual disability (full scale IQ 60 with core language skills at the 1st %ile) and high body mass index (32.5 at 37 years).
Cognitive Profile:
-
Chan AJS et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29552480
CNV End: 30188679
CNV Size: 636200
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, SMG1P2, ZG16, KIF22, MAZ, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
chan_22_ASD_discovery_cases-case3-0406-000
Clinical Profile:
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: premature birth (born at 28+1 weeks gestation), resuscitated at birth, intubated for four days and on dopamine infusion for three days, stayed in NICU for the first four weeks of life, very large patent ductus arteriosus noted at birth (failed attempts at medical closure, surgically ligated at 4.5 weeks). Developmental milestones: no early motor delay, single words with meaning at 5 years followed by usage of sentences by 6 years. Dysmorphic featues: brachycephaly, left palpebral fissure shorter and narrower than right with ocular hypertelorism, low-set ears, small congenital hemangioma of the back. Family history: his mother was mosaic for the 16p11.2 deletion (25%-30% in blood) and presented with bipolar disorder and anxiety disorder.
Cognitive Profile:
-
Chan AJS et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29568480
CNV End: 30279679
CNV Size: 711200
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, SMG1P2, SMG1P5, NPIPB13, SLX1A, ZG16, BOLA2B, KIF22, MAZ, SLX1A-SULT1A3, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SULT1A3, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
chen_17_ASD_discovery_cases-caseU-2233
Clinical Profile:
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 22 (past score 24); Qualitative abnormalities in verbal and nonverbal communication, current score 17 (past score 22); Qualitative abnormalities in nonverbal communication, current score 8 (past score 11); Restricted, repetitive, and stereotyped patterns of behaviour, current score 8 (past score 9); Abnormality of development evident at or before 36 months, past score 3. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 101; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 38. Epilepsy: history of febrile convulsion but ceased medication after episodes.
Cognitive Profile:
Performance IQ 69, Verbal IQ 89, Full-scale IQ 79
Chen CH , et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29580436
CNV End: 30180574
CNV Size: 600139
Validation Description: RT-qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
christian_08_ASD_discovery_cases-AU0154303
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29552129
CNV End: 30140497
CNV Size: 588369
Validation Description: FISH, microsatellite, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: de novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
christian_08_ASD_discovery_cases-AU029803
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29552129
CNV End: 30140497
CNV Size: 588369
Validation Description: FISH, microsatellite
Primary Disorder Inheritence: -
CNV Inheritance: de novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
christian_08_ASD_discovery_cases-AU041905
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29552129
CNV End: 30255621
CNV Size: 703493
Validation Description: FISH, microsatellite
Primary Disorder Inheritence: -
CNV Inheritance: de novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A
christian_08_ASD_discovery_cases-AU0938301
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29552129
CNV End: 30140497
CNV Size: 588369
Validation Description: FISH, microsatellite
Primary Disorder Inheritence: -
CNV Inheritance: de novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
chung_11_ASD_discovery_cases-proband
Clinical Profile:
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
Cognitive Profile:
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
Chung BH , et al. (2011)Primary Diagnosis: ASD
Age: 12
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33601661
CNV End: 33829351
CNV Size: 227691
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, BMS1P8
ciuladaite_11_ASD/DD_discovery_cases-case1
Clinical Profile:
Speech problems: severely delayed speech development, delayed expressive language skills (vocabulary & articulation). Behavioral features: emotional difficulties (hyperactivity). Slight pectus excavatum. Joint hypermobility. Dysmorphic features: broad high forehead, prominent lower lip. Growth parameters: height, 127.5 cm (75th %ile); weight, 15.5 kg (<3rd %ile); head circumference, 50 cm (25th %ile). Family history: proband is only child born to healthy consanguineous parents (parents are half-siblings), mother had learning difficulties and expressive language problems, grandmother suffered from psychiatric disorder
Cognitive Profile:
Wechsler Intelligence Scale for Children, 3rd. Ed. (WISC-III) scores: verbal, 77; performance, 75; full-scale, 74.
Ciuladait Z , et al. (2011)Primary Diagnosis: Developmental delay
Age: 7 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29645163
CNV End: 30187432
CNV Size: 542270
Validation Description: RT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
ciuladaite_11_ASD/DD_discovery_cases-case2
Clinical Profile:
Stereotypical behavior, autistic features. Poor neonatal feeding and prolonged jaundice. Psychomotor development delay & hypertonia noted at 3 mos. Sat alone at 8 mos., walked alone at 15 mos. Severely delayed language development. Mild hypotonia. Dysmorphic features: dolichocephaly, low set & rotated ears, down-slanting asymmetrically-sized palpebral fissures, depressed nasal bridge, thin nares, high palate, thick lower lip, open mouth appearance, prominent mandible, narrow thorax, pectus carinatum, clinodactyly of 5th finger & 2nd toes, gap between 1st and 2nd toes. Hypermetropia. Frequent upper respiratory tract infections. Family history: proband is third child born to healthy non-consanguineous parents, two healthy sisters.
Cognitive Profile:
Developmental delay.
Ciuladait Z , et al. (2011)Primary Diagnosis: Autism
Age: 4 yrs. 7 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29645163
CNV End: 30187432
CNV Size: 542270
Validation Description: RT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
crepel_11_ASD_discovery_cases-case1
Clinical Profile:
Formal ASD with deficit in 3 domains, SRS core of 128, severe interference in social everyday interactions, head circumference of 56.6 cm
Cognitive Profile:
Total IQ=97, verbal IQ=95, performance IQ=99; highest level of education was secondary school
Crepel A , et al. (2011)Primary Diagnosis: ASD
Age: 18 yrs at evaluation
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29834114
CNV End: 29952404
CNV Size: 118291
Validation Description: Affy 6.0, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: CDIPT, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, SEZ6L2
crepel_11_ASD_discovery_cases-case2
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 600000
Validation Description: Affy 6.0
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -
davis_09_ASD_discovery_cases-AU008404
Clinical Profile:
Diagnosis: autism. Syndromic autism features: trigonocephaly
Cognitive Profile:
-
Davis LK , et al. (2009)Primary Diagnosis: Syndromic ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 34223359
CNV End: 34560001
CNV Size: 336642
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
davis_12_ASD_discovery_cases-case1
Clinical Profile:
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Cognitive Profile:
Vineland adaptive behavior scale, 98 (45th %ile).
Davis LK , et al. (2012)Primary Diagnosis: Autism
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35233431
CNV End: 35519953
CNV Size: 286523
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: FGFR3P5, FRG2JP, RARRES2P6, AGGF1P8, FRG2HP, RARRES2P9, AGGF1P9, C2orf69P4, FRG2GP, RARRES2P7, AGGF1P5, C2orf69P3, ZNF971P, FRG2DP, RARRES2P10, AGGF1P6, C2orf69P2, TP53TG3HP, FRG2IP, LINC01566, AGGF1P4
davis_12_ASD_discovery_cases-case1
Clinical Profile:
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Cognitive Profile:
Vineland adaptive behavior scale, 98 (45th %ile).
Davis LK , et al. (2012)Primary Diagnosis: Autism
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33082356
CNV End: 33994428
CNV Size: 912073
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, HERC2P8, TP53TG3C, BMS1P8, ARHGAP23P1
davis_12_ASD_discovery_cases-case1
Clinical Profile:
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Cognitive Profile:
Vineland adaptive behavior scale, 98 (45th %ile).
Davis LK , et al. (2012)Primary Diagnosis: Autism
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32012659
CNV End: 33010911
CNV Size: 998253
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: IGHV1OR16-1, IGHV1OR16-3, IGHV3OR16-9, ABHD17AP8, TP53TG3D, ACTR3BP3, ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, PABPC1P13, SLC6A10P, IGHV3OR16-6, HERC2P4, HERC2P5
egger_14_ASD_discovery_cases-caseA136
Clinical Profile:
Diagnosis: Asperger syndrome. Co-morbidities/additional features: ADHD. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Cognitive Profile:
Normal IQ
Egger G , et al. (2014)Primary Diagnosis: ASD
Age: 10 yrs. (born 2004)
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28742130
CNV End: 29032554
CNV Size: 290425
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
egger_14_ASD_discovery_cases-case1
Clinical Profile:
Case diagnosed with Asperger syndrome (subsequently confirmed; diagnostic tools N/A). Birth/neonatal history: born after uncomplicated pregnancy; normal birth weight and length (2730 g and 48 cm, respectively, 0 SD). Developmental milestones: normal; social withdrawal tendencies and disproportionate reactions to minor social stress, especially in novel and unstructured situtations, noted during early primary school years. Behavioral/psychiatric evaluation: autistic-like elements such as diminished social reciprocity, paucity of speech, poor pragmatic language, and enhanced sensory perception; marked motivational problems and recurrent mild depressive symptoms and/or ideas of reference necessitated several hospitalizations at age of 24-25 years; Minnesota Multiphasic Personality Inventory 2 Restructed Form (MMPI-2-RF) testing disclosed poor reality testing, marked feelings of distrust, and an anxious disposition with excessive worrying; profile suggested enhanced vulnerability to psychotic experiences. EEG: normal. Brain imaging: MRI and DAT-SPECT normal. Dysmorphic features: none reported. Growth parameters: length of 183 cm, weight of 80 kg. Family history: second son of non-consanguineous parents; healthy older brother; history of recurrent depression in mother, otherwise no family history of intellectual disability, congenital anomalies, or neuropsychiatric disorders.
Cognitive Profile:
High average intelligenece; Kaufman Adolescent and Adult Intelligence Test (KAIT) total IQ score of 112; undisturbed attention, memory, and executive functioning.
Egger JI , et al. (2014)Primary Diagnosis: Asperger syndrome
Age: 33 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28450558
CNV End: 29417212
CNV Size: 966655
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: APOBR, NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, NPIPB7, CLN3, IL27, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, NPIPB11, SGF29, EIF3C, ATXN2L, NFATC2IP, RRN3P2, SNX29P2
du_21_ASD/DD/ID_discovery_cases-case313
Clinical Profile:
Mixed receptive-expressive language disorder, epilepsy, language regression
Cognitive Profile:
-
Du X et al. (2021)Primary Diagnosis: Epilepsy
Age: 8 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584161
CNV End: 30186830
CNV Size: 602670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, SMG1P2, ZG16, KIF22, MAZ, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
du_21_ASD/DD/ID_discovery_cases-case488
Clinical Profile:
Congenital hypogonadotropic hypogonadism, micropenis, autism spectrum disorder
Cognitive Profile:
-
Du X et al. (2021)Primary Diagnosis: ASD
Age: 14 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584161
CNV End: 29722121
CNV Size: 137961
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, SLC7A5P1, SMG1P2, MIR3680-2, SPN, QPRT
du_21_ASD/DD/ID_discovery_cases-case488
Clinical Profile:
Congenital hypogonadotropic hypogonadism, micropenis, autism spectrum disorder
Cognitive Profile:
-
Du X et al. (2021)Primary Diagnosis: ASD
Age: 14 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29751767
CNV End: 30186830
CNV Size: 435064
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, INO80E, CDIPTOSP, ZG16, KIF22, MAZ, PPP4C, MAPK3, YPEL3-DT, TBX6, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT
engchuan_15_ASD_discovery_cases-case1195_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33896324
CNV Size: 399172
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, BMS1P8
engchuan_15_ASD_discovery_cases-case13219_2413
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34006099
CNV End: 34120658
CNV Size: 114560
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case14018_380
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31990503
CNV End: 33810363
CNV Size: 1819861
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV1OR16-1, IGHV1OR16-3, IGHV3OR16-9, ABHD17AP8, TP53TG3D, ACTR3BP3, ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, ENPP7P13, IGHV3OR16-12, PABPC1P13, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, BMS1P8, HERC2P4, HERC2P5
engchuan_15_ASD_discovery_cases-case14388_4970
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33951101
CNV Size: 453949
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_cases-case18153_301
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34006099
CNV End: 34120658
CNV Size: 114560
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case20089_1391001
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584162
CNV End: 30188484
CNV Size: 604323
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
engchuan_15_ASD_discovery_cases-case20127_4014001
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29636021
CNV End: 30212040
CNV Size: 576020
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
engchuan_15_ASD_discovery_cases-case2187_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31990503
CNV End: 33966841
CNV Size: 1976339
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV1OR16-1, IGHV1OR16-3, IGHV3OR16-9, ABHD17AP8, TP53TG3D, ACTR3BP3, ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, PABPC1P13, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, BMS1P8, ARHGAP23P1, HERC2P4, HERC2P5
engchuan_15_ASD_discovery_cases-case2204_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29547747
CNV End: 30228207
CNV Size: 680461
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A
engchuan_15_ASD_discovery_cases-case2276_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34024926
CNV End: 34120658
CNV Size: 95733
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case3211_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584162
CNV End: 30208204
CNV Size: 624043
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
engchuan_15_ASD_discovery_cases-case3544_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29581036
CNV End: 30188484
CNV Size: 607449
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
engchuan_15_ASD_discovery_cases-case3546_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33563814
CNV End: 33965705
CNV Size: 401892
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_cases-case3586_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34006099
CNV End: 34120658
CNV Size: 114560
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case4030_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29636021
CNV End: 30188484
CNV Size: 552464
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
engchuan_15_ASD_discovery_cases-case5068_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584162
CNV End: 30208204
CNV Size: 624043
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
engchuan_15_ASD_discovery_cases-case5139_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32478126
CNV End: 33672693
CNV Size: 1194568
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, HERC2P5
engchuan_15_ASD_discovery_cases-case5262_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584162
CNV End: 30292027
CNV Size: 707866
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
engchuan_15_ASD_discovery_cases-case5277_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29661661
CNV End: 29704424
CNV Size: 42764
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, QPRT
engchuan_15_ASD_discovery_cases-case5359_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29636021
CNV End: 30276402
CNV Size: 640382
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
engchuan_15_ASD_discovery_cases-case5382_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28811452
CNV End: 29032129
CNV Size: 220678
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
engchuan_15_ASD_discovery_cases-case5416_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32478126
CNV End: 33371260
CNV Size: 893135
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, HERC2P5
engchuan_15_ASD_discovery_cases-case8491_202
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33951101
CNV Size: 453949
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_cases-case8541_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33951101
CNV Size: 453949
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_cases-case8581_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34068162
CNV End: 34202080
CNV Size: 133919
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DUX4L45, PCMTD1P2, DUX4L46, DUX4L47, LINC00273, RNA5-8SP2
engchuan_15_ASD_discovery_cases-case9619_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33951101
CNV Size: 453949
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
fan_19_ASD_discovery_cases-caseASD386
Primary Diagnosis: ASD
Age: 3 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29568700
CNV End: 30167085
CNV Size: 598386
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
fernandez_10_ASD_discovery_cases-proband1
Primary Diagnosis: ASD with cognitive delay
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex (sibling with ASD)
CNV Start: -
CNV End: -
CNV Size: 555000
Validation Description: qPCR, FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex (sibling with ASD)
Genome Build: Unknown
Gene Content: -
fernandez_10_ASD_discovery_cases-proband2
Primary Diagnosis: ASD with anxiety disorder
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex (sibling with Aspberger syndrome)
CNV Start: -
CNV End: -
CNV Size: 555000
Validation Description: qPCR, FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex (sibling with Aspberger syndrome)
Genome Build: Unknown
Gene Content: -
fernandez_10_ASD_discovery_cases-proband3
Clinical Profile:
NA
Cognitive Profile:
Leiter not testable at 4 yr 8 months
Fernandez BA , et al. (2009)Primary Diagnosis: ASD with cognitive delay
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: -
CNV End: -
CNV Size: 555000
Validation Description: qPCR, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -
fernandez_10_ASD_discovery_cases-proband4
Primary Diagnosis: ASD with cognitive delay and anxiety disorder
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: -
CNV End: -
CNV Size: 555000
Validation Description: qPCR, FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
fernandez_10_ASD_discovery_cases-proband5
Clinical Profile:
NA
Cognitive Profile:
WISC-III (9 yr); FSIQ 54 (1%); PPVT=5 yr (at 9 years)
Fernandez BA , et al. (2009)Primary Diagnosis: ASD with cognitive delay
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: -
CNV End: -
CNV Size: 555000
Validation Description: qPCR, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
fernandez_10_ASD_discovery_cases-proband6
Clinical Profile:
NA
Cognitive Profile:
Bayley Scales (21 months): low-average cognitive skills
Fernandez BA , et al. (2009)Primary Diagnosis: Developmental delay
Age: 26 months
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 555000
Validation Description: qPCR, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -
gai_11_ASD_replication_cases-AU002903
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29554843
CNV End: 30316266
CNV Size: 761424
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, GIYD2, GIYD1, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC440354, LOC595101, CD2BP2, TBC1D10B, MYLPF, SEPT1, ZNF48
fitzgerald_14_ASD/DD/ID_discovery_cases-case000007
Clinical Profile:
Clinical profile N/A; CNV from Supplementary Table S10
Cognitive Profile:
N/A
Deciphering Developmental Disorders Study (2014)Primary Diagnosis: N/A
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28475371
CNV End: 28517842
CNV Size: 42472
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: APOBR, CLN3, IL27
fitzgerald_14_ASD/DD/ID_discovery_cases-case000008
Clinical Profile:
Clinical profile N/A; CNV from Supplementary Table S11
Cognitive Profile:
N/A
Deciphering Developmental Disorders Study (2014)Primary Diagnosis: N/A
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28817650
CNV End: 28836597
CNV Size: 18948
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER257813
Clinical Profile:
Cleft palate; Micrognathia; Upslanted palpebral fissure; Obesity; Global developmental delay
Cognitive Profile:
-
Deciphering Developmental Disorders Study (2014)Primary Diagnosis: Developmental delay
Age: N/A
Gender: M
Primary Disorder Inheritence: Maternal
Family Profile: Multi-generational
CNV Start: 29595216
CNV End: 30204303
CNV Size: 609088
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260234
Clinical Profile:
Microcephaly; Global developmental delay; Joint hypermobility; Proportionate short stature; Delayed speech and language development
Cognitive Profile:
-
Deciphering Developmental Disorders Study (2014)Primary Diagnosis: Developmental delay
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29977689
CNV End: 30026924
CNV Size: 49236
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: HIRIP3, C16orf92, TAOK2, INO80E, FAM57B, DOC2A
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262872
Clinical Profile:
Global developmental delay; Specific learning disability; Constipation; Hypoplasia of dental enamel
Cognitive Profile:
-
Deciphering Developmental Disorders Study (2014)Primary Diagnosis: Developmental delay
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29581461
CNV End: 30245907
CNV Size: 664447
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A
fedorenko_15_CAS_discovery_cases-case1
Clinical Profile:
SFARIbase ID 3062.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 200; intelligibility rating, 3; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 3; syllable repetition test (SRT) task 2 syllables raw score, 12; SRT task 3 syllables raw score, 4; SRT task 4 syllables raw score, N/A. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 6th %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 40th %ile; Bruininks-Oseretsky Test (BOT), 14th %ile.
Cognitive Profile:
IQ 80
Fedorenko E , et al. (2015)Primary Diagnosis: Childhood apraxia of speech
Age: 8 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
fedorenko_15_CAS_discovery_cases-case10
Clinical Profile:
SFARIbase ID 3001.101. Limited verbal output for this inidividual precluded speech diagnosis. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 1st %ile; Peabody Picture Vocabulary Test (PPVT), 6th %ile; Test for Reception of Grammar (TROG), 1st %ile; rapid automatized naming (RAN), N/A; Bruininks-Oseretsky Test (BOT), N/A.
Cognitive Profile:
IQ 80
Fedorenko E , et al. (2015)Primary Diagnosis: Speech delay
Age: 9 yrs. 11 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
fedorenko_15_CAS_discovery_cases-case11
Clinical Profile:
SFARIbase ID 3024.101. Limited verbal output for this inidividual precluded speech diagnosis. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, <0.1 %ile; Peabody Picture Vocabulary Test (PPVT), 0.5th %ile; Test for Reception of Grammar (TROG), 1st %ile; rapid automatized naming (RAN), N/A; Bruininks-Oseretsky Test (BOT), 1st %ile.
Cognitive Profile:
IQ 80
Fedorenko E , et al. (2015)Primary Diagnosis: Speech delay
Age: 16 yrs. 3 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
fedorenko_15_CAS_discovery_cases-case2
Clinical Profile:
SFARIbase ID 3199.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 150; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 88%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 2; syllable repetition test (SRT) task 2 syllables raw score, 16; SRT task 3 syllables raw score, 12; SRT task 4 syllables raw score, 8. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 27th %ile; Peabody Picture Vocabulary Test (PPVT), 77th %ile; Test for Reception of Grammar (TROG), 66th %ile; rapid automatized naming (RAN), 85.3 %ile; Bruininks-Oseretsky Test (BOT), 7th %ile.
Cognitive Profile:
IQ 80
Fedorenko E , et al. (2015)Primary Diagnosis: Childhood apraxia of speech
Age: 10 yrs. 11 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
fedorenko_15_CAS_discovery_cases-case3
Clinical Profile:
SFARIbase ID 3092.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 418; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 83%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, N/A; syllable repetition test (SRT) task 2 syllables raw score, N/A; SRT task 3 syllables raw score, N/A; SRT task 4 syllables raw score, N/A. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 37th %ile; Peabody Picture Vocabulary Test (PPVT), 16th %ile; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 92nd %ile; Bruininks-Oseretsky Test (BOT), 31st %ile.
Cognitive Profile:
IQ 80
Fedorenko E , et al. (2015)Primary Diagnosis: Childhood apraxia of speech
Age: 8 yrs. 9 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
fedorenko_15_CAS_discovery_cases-case4
Clinical Profile:
SFARIbase ID 3015.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 147; intelligibility rating, 4; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 4; syllable repetition test (SRT) task 2 syllables raw score, 9; SRT task 3 syllables raw score, 6; SRT task 4 syllables raw score, N/A. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 32nd %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 16th %ile; Bruininks-Oseretsky Test (BOT), 1st %ile.
Cognitive Profile:
IQ 80
Fedorenko E , et al. (2015)Primary Diagnosis: Childhood apraxia of speech
Age: 6 yrs. 3 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
fedorenko_15_CAS_discovery_cases-case5
Clinical Profile:
SFARIbase ID 3008.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 292; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 81%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 2; syllable repetition test (SRT) task 2 syllables raw score, 13; SRT task 3 syllables raw score, 5; SRT task 4 syllables raw score, 5. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 16th %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), N/A; Bruininks-Oseretsky Test (BOT), 1st %ile.
Cognitive Profile:
IQ 80
Fedorenko E , et al. (2015)Primary Diagnosis: Childhood apraxia of speech
Age: 5 yrs. 4 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
fedorenko_15_CAS_discovery_cases-case6
Clinical Profile:
SFARIbase ID 3023.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 145; intelligibility rating, 2; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 8; syllable repetition test (SRT) task 2 syllables raw score, 16; SRT task 3 syllables raw score, 13; SRT task 4 syllables raw score, 3. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 19th %ile; Peabody Picture Vocabulary Test (PPVT), 45th %ile; Test for Reception of Grammar (TROG), 16th %ile; rapid automatized naming (RAN), 97.8 %ile; Bruininks-Oseretsky Test (BOT), 99th %ile.
Cognitive Profile:
IQ 80
Fedorenko E , et al. (2015)Primary Diagnosis: Childhood apraxia of speech
Age: 14 yrs. 8 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
fedorenko_15_CAS_discovery_cases-case7
Clinical Profile:
SFARIbase ID 3036.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 219; intelligibility rating, 4; percent phenomes correct (PPC) conversation, 66%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 7; syllable repetition test (SRT) task 2 syllables raw score, 15; SRT task 3 syllables raw score, 15; SRT task 4 syllables raw score, 9. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, N/A; Peabody Picture Vocabulary Test (PPVT), 58th %ile; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 76th %ile; Bruininks-Oseretsky Test (BOT), 27th %ile.
Cognitive Profile:
IQ 80
Fedorenko E , et al. (2015)Primary Diagnosis: Childhood apraxia of speech
Age: 10 yrs. 10 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
fedorenko_15_CAS_discovery_cases-case8
Clinical Profile:
SFARIbase ID 3029.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 208; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 85%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 4; syllable repetition test (SRT) task 2 syllables raw score, 15; SRT task 3 syllables raw score, 11; SRT task 4 syllables raw score, 1. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 1st %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 48.5 %ile; Bruininks-Oseretsky Test (BOT), 31st %ile.
Cognitive Profile:
IQ 80
Fedorenko E , et al. (2015)Primary Diagnosis: Childhood apraxia of speech
Age: 8 yrs. 4 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
fedorenko_15_CAS_discovery_cases-case9
Clinical Profile:
SFARIbase ID 3014.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 180; intelligibility rating, 3; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 8; syllable repetition test (SRT) task 2 syllables raw score, 16; SRT task 3 syllables raw score, 18; SRT task 4 syllables raw score, 7. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 27th %ile; Peabody Picture Vocabulary Test (PPVT), 50th %ile; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 2nd %ile; Bruininks-Oseretsky Test (BOT), 12th %ile.
Cognitive Profile:
IQ 80
Fedorenko E , et al. (2015)Primary Diagnosis: Childhood apraxia of speech
Age: 18 yrs. 1 mo.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
fry_16_DD/ID/EP/ASD_discovery_cases-caseR404
Clinical Profile:
Clinical features: ASD, mild developmental delay. Age of seizure onset: 8 months. Epilepsy syndrome: West syndrome. Seizure types: infantile spasms, absence seizures.
Cognitive Profile:
Mild developmental delay
Fry AE , et al. (2016)Primary Diagnosis: ASD, developmental delay and epilepsy
Age: 7 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584162
CNV End: 30186830
CNV Size: 602669
Validation Description: Solid phase hybridization (Illumina), FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
feliciano_19_ASD_discovery_cases-caseSP0002040
Clinical Profile:
Family history: both parents are negative for ASD and unknown for other mental health diagnoses.
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28825624
CNV End: 28990013
CNV Size: 164390
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
feliciano_19_ASD_discovery_cases-caseSP0003496
Clinical Profile:
Family history: mother presents with ASD.
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29679198
CNV End: 30188577
CNV Size: 509380
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, TLCD3B, ALDOA, PPP4C, SEZ6L2, DOC2A
feliciano_19_ASD_discovery_cases-caseSP0009634
Clinical Profile:
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29679198
CNV End: 30187868
CNV Size: 508671
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, TLCD3B, ALDOA, PPP4C, SEZ6L2, DOC2A
feliciano_19_ASD_discovery_cases-caseSP0012371
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28825366
CNV End: 28990013
CNV Size: 164648
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
feliciano_19_ASD_discovery_cases-caseSP0030419
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29679198
CNV End: 30187848
CNV Size: 508651
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, TLCD3B, ALDOA, PPP4C, SEZ6L2, DOC2A
feliciano_19_ASD_discovery_cases-caseSP0040523
Clinical Profile:
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29679198
CNV End: 30188577
CNV Size: 509380
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, TLCD3B, ALDOA, PPP4C, SEZ6L2, DOC2A
gannon_11_ASD/DD_discovery_cases-patientR
Primary Diagnosis: ASD and/or DD
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
girirajan_11_ASD_discovery_cases-Si142
Clinical Profile:
ADOS score: 4. Vineland composite score: 90.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 117; Non-verbal IQ, 99.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32511545
CNV End: 32593327
CNV Size: 81783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si145
Clinical Profile:
ADOS score: 9. Vineland composite score: 70.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 37; Non-verbal IQ, 68.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 15
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33707362
CNV Size: 163871
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si155
Clinical Profile:
ADOS score: 8. Vineland composite score: 80.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 120; Non-verbal IQ, 93.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 13
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33577320
CNV End: 33707362
CNV Size: 130043
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
gazzellone_14_ASD_discovery_cases-case503-3
Clinical Profile:
ASD; no other clinical information provided
Cognitive Profile:
N/A
Gazzellone MJ , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28807708
CNV End: 29039870
CNV Size: 232163
Validation Description: qPCR or Taqman assay
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_11_ASD_discovery_cases-Si16
Clinical Profile:
ADOS score: 10. Vineland composite score: 66.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 108; Non-verbal IQ, 100.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 11
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32254555
CNV End: 32641445
CNV Size: 386891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TP53TG3D, ACTR3BP3, ABCD1P3, PABPC1P13
girirajan_11_ASD_discovery_cases-Si162
Clinical Profile:
ADOS score: 7. Vineland composite score: 64.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33707362
CNV Size: 163871
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si162
Clinical Profile:
ADOS score: 7. Vineland composite score: 64.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32254555
CNV End: 32641445
CNV Size: 386891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TP53TG3D, ACTR3BP3, ABCD1P3, PABPC1P13
girirajan_11_ASD_discovery_cases-Si164
Clinical Profile:
ADOS score: 9. Vineland composite score: 59.
Cognitive Profile:
Severe mental retardation/intellectual disability. Full-scale IQ, 33; Verbal IQ, 22; Non-verbal IQ, 43.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32254555
CNV End: 32641445
CNV Size: 386891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TP53TG3D, ACTR3BP3, ABCD1P3, PABPC1P13
girirajan_11_ASD_discovery_cases-Si167
Clinical Profile:
ADOS score: 8. Vineland composite score: 82.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 128; Non-verbal IQ, 118.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 15
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33623498
CNV Size: 80007
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si173
Clinical Profile:
ADOS score: 7. Vineland composite score: 75.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33707362
CNV Size: 163871
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si175
Clinical Profile:
ADOS score: 5. Vineland composite score: 72.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 16
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29578935
CNV End: 29700718
CNV Size: 121784
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, SMG1P2, QPRT, CA5AP1
girirajan_11_ASD_discovery_cases-Si175
Clinical Profile:
ADOS score: 5. Vineland composite score: 72.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 16
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29779323
CNV End: 30182585
CNV Size: 403263
Validation Description: aCGH (Nimblegen 3x720K or Agilent 2x400K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_11_ASD_discovery_cases-Si175
Clinical Profile:
ADOS score: 5. Vineland composite score: 72.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 16
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29627520
CNV End: 30210579
CNV Size: 583060
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
girirajan_11_ASD_discovery_cases-Si177
Clinical Profile:
ADOS score: 8. Vineland composite score: 80.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 96; Non-verbal IQ, 75.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33558649
CNV End: 33707362
CNV Size: 148714
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si180
Clinical Profile:
ADOS score: NA. Vineland composite score: 73.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 129; Non-verbal IQ, 100.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 19
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33605436
CNV Size: 61945
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si183
Clinical Profile:
ADOS score: 7. Vineland composite score: 66.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 13
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33604250
CNV Size: 60759
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si184
Clinical Profile:
ADOS score: 10. Vineland composite score: 70.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 77; Non-verbal IQ, 105.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33592037
CNV End: 33707362
CNV Size: 115326
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si188
Clinical Profile:
ADOS score: 7. Vineland composite score: 91.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 135; Verbal IQ, 134; Non-verbal IQ, 128.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33688604
CNV Size: 145113
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si196
Clinical Profile:
ADOS score: NA. Vineland composite score: 74.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 118; Verbal IQ, 116; Non-verbal IQ, 117.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 17
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32562508
CNV End: 32632370
CNV Size: 69863
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si209
Clinical Profile:
ADOS score: 6. Vineland composite score: 90.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 120; Non-verbal IQ, 128.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 13
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32445823
CNV End: 32641445
CNV Size: 195623
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si21
Clinical Profile:
ADOS score: 10. Vineland composite score: 76.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 77; Non-verbal IQ, 85.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32289420
CNV End: 32641445
CNV Size: 352026
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ACTR3BP3, ABCD1P3, PABPC1P13
girirajan_11_ASD_discovery_cases-Si222
Clinical Profile:
ADOS score: 10. Vineland composite score: 45.
Cognitive Profile:
Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 46; Non-verbal IQ, 19.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 16
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32254555
CNV End: 32641445
CNV Size: 386891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TP53TG3D, ACTR3BP3, ABCD1P3, PABPC1P13
girirajan_11_ASD_discovery_cases-Si224
Clinical Profile:
ADOS score: 10. Vineland composite score: 77.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 88.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 11
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32475497
CNV End: 32641445
CNV Size: 165949
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si225
Clinical Profile:
ADOS score: 8. Vineland composite score: 69.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 11
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32475201
CNV End: 32641445
CNV Size: 166245
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si225
Clinical Profile:
ADOS score: 8. Vineland composite score: 69.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 11
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33717001
CNV Size: 173510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si226
Clinical Profile:
ADOS score: 4. Vineland composite score: 77.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 12
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33681850
CNV Size: 138359
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si226
Clinical Profile:
ADOS score: 4. Vineland composite score: 77.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 12
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35241748
CNV End: 35543899
CNV Size: 302152
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: FRG2JP, RARRES2P6, AGGF1P8, FRG2HP, RARRES2P9, AGGF1P9, C2orf69P4, FRG2GP, RARRES2P7, AGGF1P5, C2orf69P3, ZNF971P, FRG2DP, RARRES2P10, AGGF1P6, C2orf69P2, TP53TG3HP, RARRES2P8, FRG2IP, LINC01566, AGGF1P4
girirajan_11_ASD_discovery_cases-Si228
Clinical Profile:
ADOS score: 10. Vineland composite score: 96.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 99; Verbal IQ, 89; Non-verbal IQ, 107.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32475502
CNV End: 32641445
CNV Size: 165944
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si24
Clinical Profile:
ADOS score: 10. Vineland composite score: 87.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 102; Non-verbal IQ, 74.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 14
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33707362
CNV Size: 163871
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si245
Clinical Profile:
ADOS score: 6. Vineland composite score: 72.
Cognitive Profile:
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29779323
CNV End: 30181241
CNV Size: 401919
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_11_ASD_discovery_cases-Si245
Clinical Profile:
ADOS score: 6. Vineland composite score: 72.
Cognitive Profile:
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29642417
CNV End: 29700718
CNV Size: 58302
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, QPRT
girirajan_11_ASD_discovery_cases-Si245
Clinical Profile:
ADOS score: 6. Vineland composite score: 72.
Cognitive Profile:
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29627520
CNV End: 30210579
CNV Size: 583060
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
girirajan_11_ASD_discovery_cases-Si254
Clinical Profile:
ADOS score: 6. Vineland composite score: 54.
Cognitive Profile:
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 12
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32469318
CNV End: 32619369
CNV Size: 150052
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si254
Clinical Profile:
ADOS score: 6. Vineland composite score: 54.
Cognitive Profile:
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 12
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33707362
CNV Size: 163871
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si266
Clinical Profile:
ADOS score: 7. Vineland composite score: 55.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 52; Verbal IQ, 37; Non-verbal IQ, 59.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 13
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33605436
CNV End: 33968220
CNV Size: 362785
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
girirajan_11_ASD_discovery_cases-Si273
Clinical Profile:
ADOS score: 7. Vineland composite score: 54.
Cognitive Profile:
Severe mental retardation/intellectual disability. Full-scale IQ, 35; Verbal IQ, 26; Non-verbal IQ, 39.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 14
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33623498
CNV End: 33677739
CNV Size: 54242
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si3
Clinical Profile:
ADOS score: 10. Vineland composite score: 110.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33605436
CNV Size: 61945
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si30
Clinical Profile:
ADOS score: 8. Vineland composite score: 71.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 113; Non-verbal IQ, 102.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 11
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33717001
CNV Size: 173510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si319
Clinical Profile:
ADOS score: 8. Vineland composite score: 73.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 93; Non-verbal IQ, 92.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 12
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32475201
CNV End: 32641445
CNV Size: 166245
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si37
Clinical Profile:
ADOS score: 8. Vineland composite score: 82.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 115; Non-verbal IQ, 129.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33815190
CNV End: 33967045
CNV Size: 151856
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, ARHGAP23P1
girirajan_11_ASD_discovery_cases-Si4
Clinical Profile:
ADOS score: 6. Vineland composite score: 54.
Cognitive Profile:
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 24; Non-verbal IQ, 39.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 13
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33613376
CNV Size: 69885
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si55
Clinical Profile:
ADOS score: 8. Vineland composite score: 64.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 86; Non-verbal IQ, 92.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 18
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33569425
CNV End: 33635593
CNV Size: 66169
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si65
Clinical Profile:
ADOS score: 7. Vineland composite score: 81.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 96; Non-verbal IQ, 74.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 11
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33638756
CNV End: 33732197
CNV Size: 93442
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si68
Clinical Profile:
ADOS score: 6. Vineland composite score: 82.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 16
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32254555
CNV End: 32617078
CNV Size: 362524
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TP53TG3D, ACTR3BP3, ABCD1P3, PABPC1P13
girirajan_11_ASD_discovery_cases-Si74
Clinical Profile:
ADOS score: 9. Vineland composite score: 60.
Cognitive Profile:
Mild mental retardation/intellectual disability. Full-scale IQ, 60; Verbal IQ, 51; Non-verbal IQ, 66.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 13
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33543492
CNV End: 33717001
CNV Size: 173510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si78
Clinical Profile:
ADOS score: 6. Vineland composite score: 78.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 77; Non-verbal IQ, 89.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 17
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33588938
CNV End: 33681850
CNV Size: 92913
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si80
Clinical Profile:
ADOS score: 6. Vineland composite score: 85.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 87; Non-verbal IQ, 95.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33623498
CNV End: 33861147
CNV Size: 237650
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, BMS1P8
girirajan_11_ASD_discovery_cases-Si84
Clinical Profile:
ADOS score: 8. Vineland composite score: 77.
Cognitive Profile:
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 14
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29779323
CNV End: 30185584
CNV Size: 406262
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_11_ASD_discovery_cases-Si84
Clinical Profile:
ADOS score: 8. Vineland composite score: 77.
Cognitive Profile:
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 14
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29627520
CNV End: 30210579
CNV Size: 583060
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
girirajan_11_ASD_discovery_cases-Si84
Clinical Profile:
ADOS score: 8. Vineland composite score: 77.
Cognitive Profile:
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 14
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29640428
CNV End: 29700718
CNV Size: 60291
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, QPRT
girirajan_12_ASD/DD/ID_discovery_cases-case1087
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1088
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1089
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1090
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1091
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1092
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1093
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1094
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1095
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1096
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1097
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1098
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1099
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1100
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1101
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1102
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1103
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1104
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1105
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1106
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1107
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1108
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1109
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1110
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1111
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1112
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1113
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1114
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1115
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1116
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1117
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1118
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1119
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1120
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1121
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1122
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1123
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1124
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1125
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1126
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1127
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1128
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1129
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1130
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1131
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1132
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1133
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1134
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1135
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1136
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1137
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1138
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1139
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case1140
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1141
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1142
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1143
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1144
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1145
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1146
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1147
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1148
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1149
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1150
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1151
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1152
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1153
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1154
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1155
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1156
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1157
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1158
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1159
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1160
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1161
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1162
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1163
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1164
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1165
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1166
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1167
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1168
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1169
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1170
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1171
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1172
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1173
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1174
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1175
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1176
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1177
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1178
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1179
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1180
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1181
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1182
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1183
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1184
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1185
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1186
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1187
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1188
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1189
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1190
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1191
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1192
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1193
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1194
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1195
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1196
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1197
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1198
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1199
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1200
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1201
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1202
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1203
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1204
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1205
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1206
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1207
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1208
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1209
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1210
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1211
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1212
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1213
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1214
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1215
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1216
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1217
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1218
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1219
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1220
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1221
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1222
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1223
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1224
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1225
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1226
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1227
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1228
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1229
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1230
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1231
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1232
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1233
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1234
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1235
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1236
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1237
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1238
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1239
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1240
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1241
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1242
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1243
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1244
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1245
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1246
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1247
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1248
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1249
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1250
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1251
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1252
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1253
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1254
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1255
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1256
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1257
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1258
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1259
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1260
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1261
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1262
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1263
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1264
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1265
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1266
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1267
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1268
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1269
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1270
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1271
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1272
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1273
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1274
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1275
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1276
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1277
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1278
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1279
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1280
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1281
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1282
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1283
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1284
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1285
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1286
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1287
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1288
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1289
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1290
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1291
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1292
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1293
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1294
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1295
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1296
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1297
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1298
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1299
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1300
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1301
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1302
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1303
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1304
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1305
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1306
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1307
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1308
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1309
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1310
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1311
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1312
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1313
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1314
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1315
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1316
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1317
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1318
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1319
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1320
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case1321
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case21897
Clinical Profile:
Behavioral problems: ADHD. Hypotonia. Mild pontine hypoplasia. Dysmorphic features: short forehead, epicanthal folds, broad nasal bridge. Growth parameters: weight 10th-25th %ile, height 50th-75th %ile, OFC +0.2 SD. Family history: not specified.
Cognitive Profile:
Developmental delay, IQ 83.
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 9 yrs. 1 mo.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case23022
Clinical Profile:
Borderline newborn screening, failure to thrive, altered mental status. Hypotonia. Borderline Chiari I, mild prominence of ventricular system, neonatal abstinence syndrome with seizure-like activity, tongue fasciculations. Dysmorphic features: irregular skull, high anterior hairline, frontal bossing, telecanthus, upslanting palpebral fissures, ptosis, blue sclera, flat nasal bridge, severe maxillary hypoplasia, short septum, deep and long philtrum, thick lips, wide mouth, high palate, protruding tongue, short neck. Congenital anomalies: hypertrophic cardiomyopathy, inguinal hernias. Other features: history of multiple prenatal exposures, suspected fatty acid oxidation defect. Growth parameters: weight <3rd %ile, height <3rd %ile, OFC <3rd %ile. Family history: maternal susbtance abuse.
Cognitive Profile:
Developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 4.5 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case23022
Clinical Profile:
Borderline newborn screening, failure to thrive, altered mental status. Hypotonia. Borderline Chiari I, mild prominence of ventricular system, neonatal abstinence syndrome with seizure-like activity, tongue fasciculations. Dysmorphic features: irregular skull, high anterior hairline, frontal bossing, telecanthus, upslanting palpebral fissures, ptosis, blue sclera, flat nasal bridge, severe maxillary hypoplasia, short septum, deep and long philtrum, thick lips, wide mouth, high palate, protruding tongue, short neck. Congenital anomalies: hypertrophic cardiomyopathy, inguinal hernias. Other features: history of multiple prenatal exposures, suspected fatty acid oxidation defect. Growth parameters: weight <3rd %ile, height <3rd %ile, OFC <3rd %ile. Family history: maternal susbtance abuse.
Cognitive Profile:
Developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 4.5 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case23391
Clinical Profile:
ADHD, frustation. Normal tone. Dysmorphic features: brachycephaly, mild ptosis, cleft in columella, downturned mouth, dental crowding, high palate, low posterior hairline, short neck, hypoplastic pinnae, Darwin's tubercles. Congenital anomalies: iris colobomas. Growth parameters: weight >97th %ile, height 50th %ile, OFC 50th %ile. Family history: mother and father both have learning disability. Patient previously reported in Rosenfeld et al., 2010.
Cognitive Profile:
Mild global developmental delays, low-average cognition
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 8 yrs. 8 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case23858
Clinical Profile:
Encephalopathy. Global developmental delay, with greatest delays in speech. Behavioral problems: stereotypies, aggression, ADHD. Normal tone. Poor articulation. Seizures ar 2 years. Dysmorphic features: small pointed chin, large ears, high anterior hairline, frontal bossing, positional plagiocephaly. Other features: intrauterine growth retardation (IUGR). Growth parameters: weight 25th-50th %ile, height 25th-50th %ile, OFC unknown. Family history: mother and father both have learning disability; father also has stutter.
Cognitive Profile:
Global developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 10 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case24333
Clinical Profile:
Hypotonia. Agenesis of corpus callosum, bilateral hearing loss, seizures. Dysmorphic features: round face, frontal bossing, epicanthal folds, hypertelorism, broad nose, shallow nasal bridge, micrognathia, preauricular pits. Congenital anomalies: atrial septal defect, inguinal hernias. Intrauterine growth retardation (IUGR). Growth parameters: weight 75th %ile, height 3rd-10th %ile. Family history: healthy parents.
Cognitive Profile:
Global developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 1 yrs 3 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case26056
Clinical Profile:
Behavioral problems: ASD, aggression, ADHD. Normal tone. Dysmorphic features: hypertelorism, downslanting palpebral fissures, prominent nose and ears. Growth parameters: weight and height 50th-75th %ile, OFC -1.2 SD. Family history: brother has CHARGE (no duplications).
Cognitive Profile:
Global developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: ASD
Age: 9 yrs. 8 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case27819
Clinical Profile:
Normal tone. Bilateral hearing loss. Dysmorphic features: overfolded superior helices, epicanthal folds, grey sclera, narrow palate. Congenital anomalies: Langer mesomelic dysplasia with Madelung deformity. Growth parameters: height <3rd %ile, OFC normal. Family history: mother has Madelung deformity; father has Leri-Weill dyschondrosteosis.
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: MCA
Age: 3.5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case28324
Clinical Profile:
Behavioral problems: PDD-NOS, delayed sleep, ADHD, aggression. Slightly decreased tone, apraxia. Dysmorphic features: small mouth, dental crowding, small pointed chin, malar hypoplasia, synophrys, long palpebral fissures, iris heterochromia, thickened ears, long philtrum, short nose, thin upper lip, short palate, nuchal webbing, low posterior hairline. Congential anomalies: narrow chest, prominent scapulae, slopping shoulders, thoracic kyphosis, valgus great toes. Growth parameters: weight 25th %ile, height 50th %ile, OFC 90th %ile. Family history: mother with depression; father with ADHD, depression, OCD, learning disability, and unusual speech; sister has ADHD; maternal and paternal history of psychiatric disorders. Patient previously reported in Rosenfeld et al., 2010.
Cognitive Profile:
Global developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: PDD-NOS
Age: 10 yrs 9 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex for ADHD
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex for ADHD
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case29163
Clinical Profile:
Dysmorphic features
Cognitive Profile:
Developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case34299
Clinical Profile:
Dysmorphic features, seizure disorder
Cognitive Profile:
Developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case36479
Clinical Profile:
Motor delay, poor speech, aggression. Normal tone. Dysmorphic features: midface hypoplasia, epicanthal folds, allergic shiners, Down syndrome-like features. Congenital anomalies: hypoplastic patellae, posterior iliac horns. Other features: strabismus. Growth parameters: weight <3rd %ile, height 5th %ile, normal OFC. Family history: mother has nail patella syndrome and intellectual disability (ID). Patient previously reported in Rosenfeld et al., 2012.
Cognitive Profile:
Developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 10 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case36901
Clinical Profile:
Behavioral problems: ADHD, mood swings. Normal tone, poor coordination, difficulty following directions. Dysmorphic features: high anterior hairline, frontal bossing, downslanting palpebral fissures, arched eyebrows, high palate. Congenital anomalies: pectus excavatum, 2-3 toe syndactyly. Other features: strabismus. Growth parameters: weight 90th %ile, height 75th %ile, OFC +2.3 SD. Family history: father and brother have bipolar disorder.
Cognitive Profile:
Global developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 8 yrs. 11 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case38700
Clinical Profile:
Failure to thrive. No developmental delay as of yet. Normal tone. Dysmorphic features: hypertelorism, long philtrum, broad nasal bridge, prominent antihelix, epicanthal folds, ptosis, bitemporal narrowing. Congenital anomalies: patent ductus arteriosus. Growth parameters: height <3rd %ile, OFC <3rd %ile. Family history: healthy parents; two sisters with learning disability, one with patent foramen ovale.
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: Dysmorphic features
Age: 2 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case39824
Clinical Profile:
Behavioral problems: oppositional defiant disorder (ODD), post-traumatic stress disorder (PTSD). Normal tone. Dysmorphic features: metopic prominence, hypertelorism, prominent nose with depressed columella, small hands. Failure to thrive. Growth parameters: weight 10th %ile, height 3rd-10th %ile, OFC -2.2 SD. Family history: mother with intellectual disability; maternal half-siblings with developmental delay.
Cognitive Profile:
Mild ID (IQ 68)
Girirajan S , et al. (2012)Primary Diagnosis: Intellectual disability and ODD
Age: 12 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case42267
Primary Diagnosis: Dysmorphic features
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case42275
Primary Diagnosis: Encephalopathy
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case43001
Clinical Profile:
Attention deficit disorder of childhood with hyperactivity, failure to thrive, microcephaly.
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: ADD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case43248
Clinical Profile:
Slightly low tone. Dysmorphic features: small mouth, low-set ears, low posterior hairline, cranium smaller fir size. Congenital anomalies: leg length discrepancy, PIP finger contractures, 2-3 toe syndactyly, scoliosis. Other features: psoriatic arthritis. Growth parameters: weight >97th %ile, height 3rd-10th %ile, OFC -1.9 SD. Family history: not specified.
Cognitive Profile:
Global developmental delays; mild ID
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 21 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case46810
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case47954
Clinical Profile:
Expressive language delay, special ed preschool. Hyperactivity. Normal tone. Dysmorphic features: mild jaw asymmetry. Congenital anomalies: subglottic stenosis, possible tracheolaryngealmalacia. Other features: required G-tube feedings. Growth parameters: weight 60th %ile, height 15th %ile, OFC 50th %ile. Famiyl history: healthy mother, maternal half-sister with cleft palate and short stature (carries 2p14 duplication and 15q24.2 duplication)
Cognitive Profile:
Developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 4 yrs. 9 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case49331
Clinical Profile:
Behavioral problems: ASD. Normal tone, poor balance. Dysmorphic features: facial asymmetry, laterally displaced inner canthi, wrinkled earlobes, long nasal root, frontal bossing, midface hypoplasia, small chin, prominent gums with large central incisors. Congenital anomalies: mild left ventricular hypertrophy, scoliosis requiring surgery, 2-3 toe syndactyly. Growth parameters: weight 75th-90th %ile, height 75th %ile, OFC 75th %ile. Family history: mother with possible scoliosis.
Cognitive Profile:
Global developmental delays, IQ in extremely low range with borderline performance and processing speed.
Girirajan S , et al. (2012)Primary Diagnosis: ASD
Age: 10.5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case49557
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case51237
Clinical Profile:
Severe speech delays. Behavioral problems: fidgety and active. Normal tone. Dysmorphic features: long palpebral fissures, midface hypoplasia, prominent ears with absence of antihelical fold. Congenital anomalies: retinal coloboma, cleft palate with fistula. Growth parameters: weight 50th %ile, height 25th %ile, OFC +1.0 SD. Family history: father had learning disability; mother has seizures at 29 years; paternal family history of cleft palate.
Cognitive Profile:
Learning disability
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 8 yrs. 11 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case51323
Clinical Profile:
Speech delay. Behavioral problems: attention problems. Hypotonia. Dysmorphic features: triangular face, long nose, upslanting palpebral fissures, epicanthal folds, malar hypoplasia, retrognathia. Congenital anomalies: large ventricular septal defect, pulmonary valve stenosis, left pulmonary artery hypoplasia; restricted extension and pronation at knees and elbows; hypospadias; inguinal hernia. Other features: Raynaud's disease. Growth parameters: height 25th-50th %ile. Family history: father with tetralogy of Fallot (TOF).
Cognitive Profile:
Developmental delay and nonverbal learning disability
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 16 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case55326
Clinical Profile:
Multiple congenital anomalies (MCA), dysmorphic features, bilateral hand contractures, bilateral clubfeet, growth delay
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: MCA
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_cases-case5609
Clinical Profile:
Speech and motor delays. Behavioral problems: PDD-NOS, ADHD, outbursts, OCD-like. Mild hypotonia, apraxia, heat intolerance. Dysmorphic features: turricocephaly, midface hypoplasia, flat occiput, frontal bossing, boxy overfolded helices, low-set ears. Congenital anomalies: pectus excavatum. Other features: delayed closure of AF, suspected mitochondrial disorder. Growth parameters: weight 97th %ile, height 82nd %ile, OFC >97th %ile. Family history: healthy father; brother (not tested) has mitochondrial disease. Patient previously reported in Rosenfeld et al., 2010.
Cognitive Profile:
IQ 66
Girirajan S , et al. (2012)Primary Diagnosis: PDD-NOS
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case57872
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case61119
Clinical Profile:
Motor delay. Behavioral problems: NA. Normal tone. Dysmorphic features: brachycephaly, midface hypoplasia, downturned mouth, low-set ears, long and tapered fingers, abnormal thumb. Congenital anomalies: scoliosis, unilateral renal agenesis. Growth parameters: weight <3rd %ile, height 3rd-10th %ile, OFC 25th-50th %ile. Family history: not specific (adopted).
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 9.5 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case66870
Clinical Profile:
Global developmental delay. Mixed low and high tone. Staring/jerking spells when excited. Dysmorphic features: low-set ears, broad nasal bridge, high palate, hypertelorism. Congential anomalies: sacral dimple. Other features: early teeth eruption. Growth parameters: height 3rd-10th %ile, OFC -2.2 SD. Family history: mother and brother have bipolar disorder; brother also has ADHD.
Cognitive Profile:
Global developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 11 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case67970
Clinical Profile:
Hypotonia. Epilepsy. Dysmorphic features: epicanthal folds, short downslanting palpebral fissures, small ears, bulbous nose, smooth philtrum, thin upper lip, synophrys, high palate, small mouth. Congenital anomalies: bilateral ectrodactyly, ventricular septal defect, imperforate anus, hypospadias, small testes. Other features: strabismus, prenatal cocaine exposure. Growth parameters: height <3rd %ile, weight <3rd %ile, OFC -4.8 SD. Family history: mother with addiction problems; father incarcerated.
Cognitive Profile:
Global developmental delay; 22 month level at 27 months of age.
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 2 yrs. 4 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_cases-case9460
Clinical Profile:
Hypotonia. Epilepsy. Hypernasal speech. Dysmorphic features: downslanting palpebral fissures, low-set rotated ears, frontal bossing, downturned mouth, unerupted teeth. Other features: strabismus, familial adenomatous polyposis. Growth parameters: weight >97th %ile, height 10th-25th, OFC 50th-75th %ile. Family history not specified. Patient previously reported in Heald et al.
Cognitive Profile:
Mild ID
Girirajan S , et al. (2012)Primary Diagnosis: Intellectual disability and epilepsy
Age: 22 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_13a_ASD_discovery_cases-11090.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-11433.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-11540.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-11629.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-12010.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-12308.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-12417.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-12435.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-12736.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-13335.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-13487.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-13491.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-13509.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_cases-14004.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 30042325
CNV End: 30055855
CNV Size: 13531
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-14023.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase210
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase211
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase212
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase213
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase214
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase215
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase216
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase217
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase218
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase219
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase220
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase221
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase222
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase223
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase224
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase225
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase226
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase227
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase228
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase229
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase230
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase231
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase232
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase233
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase234
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase235
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase236
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase237
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase238
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase239
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase240
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase241
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase242
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase243
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase244
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase245
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase246
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase247
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase248
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase249
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase250
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase251
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase252
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase253
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase254
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase255
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase256
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase257
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase258
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase259
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase260
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase261
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase262
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase263
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase264
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase265
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase266
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase267
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase268
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase269
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase270
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase271
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase272
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase273
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase274
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase275
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase276
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase277
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase278
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase279
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase280
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase281
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase282
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase283
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase284
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase285
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase286
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase287
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase288
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase289
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase290
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase291
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase292
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase293
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase294
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase295
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase296
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase297
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase298
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase299
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase300
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_DD_discovery_cases-DDcase301
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13b_ASD_discovery_cases-10007107879
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 35241748
CNV End: 35649178
CNV Size: 407431
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FRG2JP, RARRES2P6, AGGF1P8, FRG2HP, RARRES2P9, AGGF1P9, C2orf69P4, FRG2GP, RARRES2P7, AGGF1P5, C2orf69P3, ZNF971P, FRG2DP, RARRES2P10, AGGF1P6, C2orf69P2, TP53TG3HP, RARRES2P8, AGGF1P7, C1QL1P1, KIF18BP1, FRG2IP, C2orf69P1, LINC01566, AGGF1P4
girirajan_13b_ASD_discovery_cases-12308109510
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 35174307
CNV End: 35510473
CNV Size: 336167
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TP53TG3GP, RARRES2P5, FGFR3P5, FRG2JP, RARRES2P6, AGGF1P8, FRG2HP, RARRES2P9, AGGF1P9, C2orf69P4, FRG2GP, RARRES2P7, AGGF1P5, C2orf69P3, ZNF971P, FRG2DP, RARRES2P10, AGGF1P6, C2orf69P2, TP53TG3HP, FRG2IP, LINC01566, AGGF1P4
girirajan_13b_ASD_discovery_cases-15008109638
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33688604
CNV End: 33760944
CNV Size: 72341
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-15910112885
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 35241748
CNV End: 35649178
CNV Size: 407431
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FRG2JP, RARRES2P6, AGGF1P8, FRG2HP, RARRES2P9, AGGF1P9, C2orf69P4, FRG2GP, RARRES2P7, AGGF1P5, C2orf69P3, ZNF971P, FRG2DP, RARRES2P10, AGGF1P6, C2orf69P2, TP53TG3HP, RARRES2P8, AGGF1P7, C1QL1P1, KIF18BP1, FRG2IP, C2orf69P1, LINC01566, AGGF1P4
girirajan_13b_ASD_discovery_cases-16709111253
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32488913
CNV End: 32593327
CNV Size: 104415
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-20008109910
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33645076
CNV End: 33763715
CNV Size: 118640
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-20604100546
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 35241748
CNV End: 35649178
CNV Size: 407431
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FRG2JP, RARRES2P6, AGGF1P8, FRG2HP, RARRES2P9, AGGF1P9, C2orf69P4, FRG2GP, RARRES2P7, AGGF1P5, C2orf69P3, ZNF971P, FRG2DP, RARRES2P10, AGGF1P6, C2orf69P2, TP53TG3HP, RARRES2P8, AGGF1P7, C1QL1P1, KIF18BP1, FRG2IP, C2orf69P1, LINC01566, AGGF1P4
girirajan_13b_ASD_discovery_cases-21707108167
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33765215
CNV End: 33993056
CNV Size: 227842
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_13b_ASD_discovery_cases-22505104145
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33613376
CNV End: 33683958
CNV Size: 70583
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-25209111475
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32488913
CNV End: 32592656
CNV Size: 103744
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-25804100823
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33765210
CNV End: 33905595
CNV Size: 140386
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11
girirajan_13b_ASD_discovery_cases-28309111551
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32488913
CNV End: 32575304
CNV Size: 86392
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-28506106267
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33765210
CNV End: 33993056
CNV Size: 227847
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_13b_ASD_discovery_cases-31008110295
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32309484
CNV End: 32458117
CNV Size: 148634
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ACTR3BP3, PABPC1P13
girirajan_13b_ASD_discovery_cases-31008110295
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33688594
CNV End: 33738972
CNV Size: 50379
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-3309110754
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32553992
CNV End: 32641445
CNV Size: 87454
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
glessner_09_ASD_discovery_cases-1108_004
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_discovery_cases-13798_65634
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_discovery_cases-15301_69339
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_discovery_cases-6989_42225
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_discovery_cases-71-001-07C64102A
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU002903
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU002905
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU011004
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (possible de novo)
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU0154302
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (possible de novo)
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU0154303
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (possible de novo)
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU029803
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (possible de novo)
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU032704
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU032705
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU032706
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU032707
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU041905
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (possible de novo)
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_replication_cases-AU0938301
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (possible de novo)
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
golzio_12_ASD_discovery_cases-case1
Clinical Profile:
Diagnosis of autism based on meeting ADOS diagnostic criteria.
Cognitive Profile:
NA
Golzio C , et al. (2012)Primary Diagnosis: Autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28741178
CNV End: 29101178
CNV Size: 360001
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP, RRN3P2
golzio_12_ASD_discovery_cases-case1
Clinical Profile:
Diagnosis of autism based on meeting ADOS diagnostic criteria.
Cognitive Profile:
NA
Golzio C , et al. (2012)Primary Diagnosis: Autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 9000
Validation Description: qPCR, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: KCTD13, exons 3-5
golzio_12_ASD_discovery_cases-case2
Clinical Profile:
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
Cognitive Profile:
NA
Golzio C , et al. (2012)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case3
Clinical Profile:
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
Cognitive Profile:
NA
Golzio C , et al. (2012)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case4
Clinical Profile:
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
Cognitive Profile:
NA
Golzio C , et al. (2012)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case5
Clinical Profile:
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
Cognitive Profile:
NA
Golzio C , et al. (2012)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case6
Clinical Profile:
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
Cognitive Profile:
NA
Golzio C , et al. (2012)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case7
Clinical Profile:
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
Cognitive Profile:
NA
Golzio C , et al. (2012)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case8
Clinical Profile:
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
Cognitive Profile:
NA
Golzio C , et al. (2012)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_cases-case9
Clinical Profile:
Diagnosis of ASD based on meeting ADOS diagnostic criteria.
Cognitive Profile:
NA
Golzio C , et al. (2012)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
girirajan_13b_ASD_discovery_cases-40406106815
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33577320
CNV End: 33707362
CNV Size: 130043
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-42506106873
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33807175
CNV End: 33993056
CNV Size: 185882
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_13b_ASD_discovery_cases-45905104126
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32254555
CNV End: 32375969
CNV Size: 121415
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-46805104136
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32488913
CNV End: 32594236
CNV Size: 105324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-49906107136
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33645076
CNV End: 33707362
CNV Size: 62287
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-51604101884
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33765210
CNV End: 33828607
CNV Size: 63398
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13
girirajan_13b_ASD_discovery_cases-52904101932
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33613376
CNV End: 33681850
CNV Size: 68475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-57804101558
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32522764
CNV End: 32641445
CNV Size: 118682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-60504102200
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33805667
CNV End: 33968220
CNV Size: 162554
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, ARHGAP23P1
girirajan_13b_ASD_discovery_cases-62005104652
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33805667
CNV End: 34026578
CNV Size: 220912
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_13b_ASD_discovery_cases-65004102035
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33765210
CNV End: 33993056
CNV Size: 227847
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_13b_ASD_discovery_cases-708108819
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32522764
CNV End: 32641445
CNV Size: 118682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-8203100466
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28705946
CNV End: 29161447
CNV Size: 455502
Validation Description: aCGH (Agilent hotspot 2x400K)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, EIF3C, ATXN2L, NFATC2IP, RRN3P2
griswold_12_ASD_discovery_cases-case17416
Primary Diagnosis: ASD/autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
griswold_12_ASD_discovery_cases-case3574
Primary Diagnosis: ASD/autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
griswold_12_ASD_discovery_cases-case7740
Primary Diagnosis: ASD/autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
guo_17_ASD_discovery_cases-caseM8302
Clinical Profile:
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
Cognitive Profile:
-
Guo H , et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32171226
CNV End: 33530119
CNV Size: 1358894
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: ABHD17AP8, TP53TG3D, ACTR3BP3, ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, PABPC1P13, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, HERC2P4, HERC2P5
guo_18_ASD/DD/ID_discovery_cases-caseBK-125-03
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29549401
CNV End: 30188600
CNV Size: 639200
Validation Description: aCGH, Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-187-03
Primary Diagnosis: ASD and epilepsy
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29437001
CNV End: 30197800
CNV Size: 760800
Validation Description: aCGH, Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-313-04
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29442601
CNV End: 30197000
CNV Size: 754400
Validation Description: aCGH, Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-354-03
Clinical Profile:
-
Cognitive Profile:
Intellectual disability (FSIQ 54, NVIQ 59, VIQ 56)
Guo H , et al. (2018)Primary Diagnosis: ASD and intellectual disability
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29574601
CNV End: 30189000
CNV Size: 614400
Validation Description: aCGH, Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-378-03
Clinical Profile:
-
Cognitive Profile:
Intellectual disability (FSIQ 68, NVIQ 74, VIQ 63)
Guo H , et al. (2018)Primary Diagnosis: ASD and intellectual disability
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29551601
CNV End: 30188600
CNV Size: 637000
Validation Description: aCGH, Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-398-03
Clinical Profile:
-
Cognitive Profile:
Intellectual disability (FSIQ 70, NVIQ 62, VIQ 94)
Guo H , et al. (2018)Primary Diagnosis: ASD and intellectual disability
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29540001
CNV End: 30188600
CNV Size: 648600
Validation Description: aCGH, Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
guo_18_ASD/DD/ID_discovery_cases-caseBK-428-03
Clinical Profile:
Visual impairment
Cognitive Profile:
Intellectual disability (FSIQ 72, NVIQ 69, VIQ 78); learning disability
Guo H , et al. (2018)Primary Diagnosis: ASD and intellectual disability
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28811001
CNV End: 29038200
CNV Size: 227200
Validation Description: aCGH, Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
guo_18_ASD/DD/ID_discovery_cases-caseBK-473-03
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29538801
CNV End: 30188600
CNV Size: 649800
Validation Description: aCGH, Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
husson_20_ASD_discovery_cases-case392
Primary Diagnosis: ASD and intellectual disability
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29662950
CNV End: 30187223
CNV Size: 524274
Validation Description: ddPCR, QMPSF, or aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, TLCD3B, ALDOA, PPP4C, SEZ6L2, DOC2A
husson_20_ASD_discovery_cases-case405
Primary Diagnosis: ASD
Age: 11 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Familial
CNV Start: 29662950
CNV End: 30187223
CNV Size: 524274
Validation Description: ddPCR, QMPSF, or aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Familial
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, TLCD3B, ALDOA, PPP4C, SEZ6L2, DOC2A
hu_22_ASD_discovery_cases-case3
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29790717
CNV End: 30189076
CNV Size: 398360
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, INO80E, CDIPTOSP, KIF22, MAZ, PPP4C, MAPK3, YPEL3-DT, TBX6, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT
itsara_10_ASD_discovery_cases-HI0624
Primary Diagnosis: Autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636021
CNV End: 30119172
CNV Size: 483152
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
itsara_10_ASD_discovery_cases-HI0899
Primary Diagnosis: Autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 28826194
CNV End: 29032129
CNV Size: 205936
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
itsara_10_ASD_discovery_cases-HI2466
Primary Diagnosis: Autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636021
CNV End: 30082859
CNV Size: 446839
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, CA5AP1, SEZ6L2, DOC2A
itsara_10_ASD_discovery_cases-HI2467
Primary Diagnosis: Autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29644543
CNV End: 30166486
CNV Size: 521944
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
itsara_10_ASD_discovery_cases-HI2997
Primary Diagnosis: Autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29401182
CNV End: 30166486
CNV Size: 765305
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000129
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000189
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000193
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000349
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29227272
CNV End: 30179247
CNV Size: 951976
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000377
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000482
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
jiao_19_EP/DD/ID_discovery_cases-caseDD18005592
Clinical Profile:
Epilepsy/seizures: seizures. EEG: EEG abnormality. Additional medical history: ventricular septal defect, mitral regurgitation, patent foramen ovale, episodic tachypnea, acute respiratory tract infection.
Cognitive Profile:
-
Jiao Q , et al. (2019)Primary Diagnosis: Epilepsy/seizures
Age: 6 mos.
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29560601
CNV End: 30200601
CNV Size: 640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, ALDOA, PPP4C, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
jiao_19_EP/DD/ID_discovery_cases-caseDD18010938
Primary Diagnosis: Epilepsy/seizures
Age: 11 mos.
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28598193
CNV End: 29032667
CNV Size: 434475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, EIF3C, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000735
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000853
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000854
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000893
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000966
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000999
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001037
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001070
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001109
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001114
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29227272
CNV End: 30321260
CNV Size: 1093989
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001119
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001136
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001155
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001162
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001201
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001236
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001284
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001581
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28710478
CNV End: 29025786
CNV Size: 315309
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, EIF3C, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001630
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29566440
CNV End: 30187279
CNV Size: 620840
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001646
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29566441
CNV End: 30187279
CNV Size: 620839
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001652
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28710478
CNV End: 29025786
CNV Size: 315309
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, EIF3C, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001658
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28456967
CNV End: 30295107
CNV Size: 1838141
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: APOBR, NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, NPIPB7, CLN3, IL27, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SGF29, EIF3C, ATXN2L, NFATC2IP, RRN3P2, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001719
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28710478
CNV End: 29025786
CNV Size: 315309
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, EIF3C, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001727
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29600893
CNV End: 30187279
CNV Size: 586387
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001732
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29844610
CNV End: 30187279
CNV Size: 342670
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001793
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28293803
CNV End: 29531653
CNV Size: 1237851
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6862-1, CDC37P2, APOBR, NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, NPIPB6, EIF3CL, NPIPB7, CLN3, IL27, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, SGF29, EIF3C, ATXN2L, NFATC2IP, RRN3P2, NPIPB12, SBK1, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001910
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30359229
CNV End: 30570499
CNV Size: 211271
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SEPHS2, RNU7-61P, MIR4518, ZNF768, ZNF747, TBC1D10B, MYLPF, ZNF48, SEPT1, DCTPP1, ITGAL, ZNF764, ZNF688, ZNF771
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001919
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29829840
CNV End: 30183432
CNV Size: 353593
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002059
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28843308
CNV End: 29025786
CNV Size: 182479
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002075
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002093
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002101
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28366111
CNV End: 30183432
CNV Size: 1817322
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6862-1, CDC37P2, APOBR, NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, EIF3CL, NPIPB7, CLN3, IL27, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SGF29, EIF3C, ATXN2L, NFATC2IP, RRN3P2, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002110
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28592408
CNV End: 29025786
CNV Size: 433379
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, EIF3C, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002124
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28599237
CNV End: 29025786
CNV Size: 426550
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, EIF3C, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002126
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28599237
CNV End: 29025786
CNV Size: 426550
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, EIF3C, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002140
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002190
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002219
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002231
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002263
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29663527
CNV End: 30183432
CNV Size: 519906
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002346
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002355
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29441012
CNV End: 30323310
CNV Size: 882299
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002365
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29441012
CNV End: 30183432
CNV Size: 742421
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002377
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29441012
CNV End: 30183432
CNV Size: 742421
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002387
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002407
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28843308
CNV End: 29025786
CNV Size: 182479
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002428
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30323310
CNV Size: 677948
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002448
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29829840
CNV End: 30183432
CNV Size: 353593
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002473
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29663527
CNV End: 30183432
CNV Size: 519906
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002475
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28599237
CNV End: 29025786
CNV Size: 426550
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, EIF3C, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002480
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28843308
CNV End: 29025786
CNV Size: 182479
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002512
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28531783
CNV End: 30183432
CNV Size: 1651650
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SGF29, EIF3C, ATXN2L, NFATC2IP, RRN3P2, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002519
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28531783
CNV End: 29025786
CNV Size: 494004
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, SGF29, EIF3C, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002559
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29808232
CNV End: 30162533
CNV Size: 354302
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002658
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30162533
CNV Size: 581072
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002694
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29653208
CNV End: 30162533
CNV Size: 509326
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002701
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29653208
CNV End: 30162533
CNV Size: 509326
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002727
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29653208
CNV End: 30162533
CNV Size: 509326
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002766
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28813473
CNV End: 28981076
CNV Size: 167604
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002770
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30321260
CNV Size: 739799
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003775
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28850210
CNV End: 29019738
CNV Size: 169529
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003785
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003806
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29441012
CNV End: 30183432
CNV Size: 742421
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003830
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30321260
CNV Size: 658628
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003842
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003861
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29227272
CNV End: 30321260
CNV Size: 1093989
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003917
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662433
CNV End: 30179388
CNV Size: 516956
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003922
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003932
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28850210
CNV End: 29019738
CNV Size: 169529
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004002
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29170820
CNV End: 30179247
CNV Size: 1008428
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004036
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29086504
CNV End: 30333716
CNV Size: 1247213
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, RRN3P2, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004099
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29227072
CNV End: 30179388
CNV Size: 952317
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004127
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30187279
CNV Size: 524647
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004177
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004199
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004218
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28843308
CNV End: 29025786
CNV Size: 182479
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004243
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662433
CNV End: 30179388
CNV Size: 516956
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004290
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662635
CNV End: 30187279
CNV Size: 524645
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004293
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004300
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662635
CNV End: 30186020
CNV Size: 523386
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004319
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004330
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004391
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004416
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004448
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29227072
CNV End: 30179388
CNV Size: 952317
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004479
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662635
CNV End: 30187279
CNV Size: 524645
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004490
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662433
CNV End: 30179388
CNV Size: 516956
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004500
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662635
CNV End: 30108438
CNV Size: 445804
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004505
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28826129
CNV End: 29030797
CNV Size: 204669
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004507
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004509
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004529
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662433
CNV End: 30179388
CNV Size: 516956
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004541
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29441012
CNV End: 30323310
CNV Size: 882299
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004566
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004589
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29227272
CNV End: 30179247
CNV Size: 951976
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004593
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29645363
CNV End: 30183432
CNV Size: 538070
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004684
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29837647
CNV End: 30179388
CNV Size: 341742
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004773
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004782
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004787
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28061312
CNV End: 28584375
CNV Size: 523064
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TPRKBP2, RNY1P10, GAPDHP35, MIR6862-1, CDC37P2, APOBR, NUPR1, NPIPB6, EIF3CL, NPIPB7, CLN3, IL27, GSG1L, XPO6, SGF29, SBK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004788
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004888
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662433
CNV End: 30179388
CNV Size: 516956
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004890
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662433
CNV End: 30179388
CNV Size: 516956
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004904
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179388
CNV Size: 516756
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004925
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662433
CNV End: 30179388
CNV Size: 516956
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004944
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004946
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004953
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662433
CNV End: 30179388
CNV Size: 516956
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004992
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662635
CNV End: 30108438
CNV Size: 445804
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005018
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581462
CNV End: 30179247
CNV Size: 597786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005026
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28599237
CNV End: 29025786
CNV Size: 426550
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, EIF3C, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005041
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28492482
CNV End: 30179247
CNV Size: 1686766
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: APOBR, NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CLN3, IL27, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SGF29, EIF3C, ATXN2L, NFATC2IP, RRN3P2, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005094
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28850210
CNV End: 29019738
CNV Size: 169529
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005099
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29170620
CNV End: 30179388
CNV Size: 1008769
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005107
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29227072
CNV End: 30179388
CNV Size: 952317
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005113
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28589904
CNV End: 29030797
CNV Size: 440894
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, SGF29, EIF3C, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005125
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29227272
CNV End: 30179247
CNV Size: 951976
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005153
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30187279
CNV Size: 524647
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005219
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662433
CNV End: 30179388
CNV Size: 516956
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005264
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005300
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581262
CNV End: 30179388
CNV Size: 598127
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005363
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28826129
CNV End: 29030797
CNV Size: 204669
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005434
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29227072
CNV End: 30179388
CNV Size: 952317
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
kino_12_ASD_discovery_cases-case1
Clinical Profile:
Diagnosis of ASD at 3 years of age. Birth/neonatal history: born at 33 weeks of gestation by emergency C-section; birth weight, 1270 g; demonstrated ambiguous genitalia with small penis, bifid scrotum, undescended testes, and hypospadias at birth (underwent orcheopexy and further genitoplasty at 2 years of age). Biochemical evaluation: elevated levels of morning serum cortisol (not suppressed by dexamethsome), plasma ACTH, and serum TSH; serum concentrations of LH, FSH, dehydroepiandrosterone, dehydroepiandrosterone-sulfate, and free and total testerone within normal range. Dysmorphic features: dolichocephaly, hypertelorism, micropenis, small underdeveloped scrotum. Growth parameters: height, 111 cm (25th-50th %ile); weight, 17.2 kg (10-25th %ile).
Cognitive Profile:
Developmental delay
Kino T , et al. (2012)Primary Diagnosis: ASD
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29600000
CNV End: 30700000
CNV Size: 1100000
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, BOLA2B, BOLA2, SLX1B, SLX1A, SULT1A4, SULT1A3, CD2BP2, TBC1D10B, MYLPF, SEPT1, ZNF48, ZNF771, DCTPP1, SEPHS2, ITGAL, ZNF768, ZNF747, ZNF764, ZNF688, ZNF785, ZNF689, PRR14, FBRS
krumm_13_ASD_discovery_cases-case11090.p1
Clinical Profile:
ASD proband from SSC quad family 11090. SRS score of 83.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 56.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188576
CNV Size: 524849
Validation Description: Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_13_ASD_discovery_cases-case11229.p1
Clinical Profile:
ASD proband from SSC quad family 11229. SRS score of 73.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 63.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 31465849
CNV End: 31477576
CNV Size: 11728
Validation Description: Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ARMC5, TGFB1I1
krumm_13_ASD_discovery_cases-case11433.p1
Clinical Profile:
ASD proband from SSC quad family 11433. SRS score of 89.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 78.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29796892
CNV End: 30188576
CNV Size: 391685
Validation Description: Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_13_ASD_discovery_cases-case11629.p1
Clinical Profile:
ASD proband from SSC quad family 11629. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 50.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188576
CNV Size: 524849
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_13_ASD_discovery_cases-case12100.p1
Clinical Profile:
ASD proband from SSC quad family 12100. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 71.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188576
CNV Size: 524849
Validation Description: Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_13_ASD_discovery_cases-case12308.p1
Clinical Profile:
ASD proband from SSC quad family 12308. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 105.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188576
CNV Size: 524849
Validation Description: Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_13_ASD_discovery_cases-case12736.p1
Clinical Profile:
ASD proband from SSC quad family 12736. SRS score of 85.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 101.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29453632
CNV End: 30201293
CNV Size: 747662
Validation Description: Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
krumm_13_ASD_discovery_cases-case13509.p1
Clinical Profile:
ASD proband from SSC quad family 13509. SRS score of 89.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 70.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188087
CNV Size: 524360
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_15_ASD_discovery_cases-case11056.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29871698
CNV End: 29878425
CNV Size: 6728
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case11090.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 29803608
CNV Size: 139881
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, QPRT, KIF22
krumm_15_ASD_discovery_cases-case11090.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29813054
CNV End: 30188576
CNV Size: 375523
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_15_ASD_discovery_cases-case11229.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 31465849
CNV End: 31477576
CNV Size: 11728
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ARMC5, TGFB1I1
krumm_15_ASD_discovery_cases-case11433.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 29697411
CNV Size: 33684
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, QPRT
krumm_15_ASD_discovery_cases-case11433.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29813054
CNV End: 30188576
CNV Size: 375523
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_15_ASD_discovery_cases-case11490.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29814332
CNV End: 29817007
CNV Size: 2676
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PRRT2, PAGR1
krumm_15_ASD_discovery_cases-case11555.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188576
CNV Size: 524849
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_15_ASD_discovery_cases-case12100.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 30025182
CNV End: 30188576
CNV Size: 163395
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: C16orf92, TBX6, YPEL3, MAPK3, CORO1A, FAM57B, ALDOA, PPP4C, GDPD3
krumm_15_ASD_discovery_cases-case12100.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 29926033
CNV Size: 262306
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, SEZ6L2
krumm_15_ASD_discovery_cases-case12100.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29977772
CNV End: 30010222
CNV Size: 32451
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: HIRIP3, TAOK2, INO80E, DOC2A
krumm_15_ASD_discovery_cases-case12220.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 31465849
CNV End: 31477576
CNV Size: 11728
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ARMC5, TGFB1I1
krumm_15_ASD_discovery_cases-case12308.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 30025182
CNV End: 30188576
CNV Size: 163395
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: C16orf92, TBX6, YPEL3, MAPK3, CORO1A, FAM57B, ALDOA, PPP4C, GDPD3
krumm_15_ASD_discovery_cases-case12308.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 29926033
CNV Size: 262306
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, SEZ6L2
krumm_15_ASD_discovery_cases-case12417.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188576
CNV Size: 524849
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_15_ASD_discovery_cases-case12435.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188576
CNV Size: 524849
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_15_ASD_discovery_cases-case12451.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188576
CNV Size: 524849
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_15_ASD_discovery_cases-case12647.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29457631
CNV End: 30193793
CNV Size: 736163
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
krumm_15_ASD_discovery_cases-case13416.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28825365
CNV End: 28990012
CNV Size: 164648
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
krumm_15_ASD_discovery_cases-case13487.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188576
CNV Size: 524849
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_15_ASD_discovery_cases-case13509.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188249
CNV Size: 524522
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_15_ASD_discovery_cases-case14023.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29663728
CNV End: 30188576
CNV Size: 524849
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
krumm_15_ASD_discovery_cases-case14117.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28477736
CNV End: 28504050
CNV Size: 26315
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: APOBR, CLN3, IL27
krumm_15_ASD_discovery_cases-case14395.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type:
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 31465849
CNV End: 31477576
CNV Size: 11728
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ARMC5, TGFB1I1
kumar_08_ASD_discovery_cases-HI0624
Primary Diagnosis: ASD
Age: 4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29681178
CNV End: 30281178
CNV Size: 600001
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal de novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
kumar_08_ASD_discovery_cases-HI0646
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29681178
CNV End: 30281178
CNV Size: 600001
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal de novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
kumar_08_ASD_replication_cases-HI0128
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29681178
CNV End: 30281178
CNV Size: 600001
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
kumar_08_ASD_replication_cases-HI2466
Primary Diagnosis: ASD
Age: 14
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex (sibling of kumar_08_autism_HI2467)
CNV Start: 29681178
CNV End: 30281178
CNV Size: 600001
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal mosiac
Family Profile: Multiplex (sibling of kumar_08_autism_HI2467)
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
kumar_08_ASD_replication_cases-HI2467
Primary Diagnosis: ASD
Age: 12
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex (sibling of kumar_08_autism_HI2466)
CNV Start: 29681178
CNV End: 30281178
CNV Size: 600001
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal mosiac
Family Profile: Multiplex (sibling of kumar_08_autism_HI2466)
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
kumar_08_ASD_replication_cases-HI2997
Primary Diagnosis: ASD
Age: 9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29681178
CNV End: 30281178
CNV Size: 600001
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal de novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
kushima_18_ASD_discovery_cases-caseASD0195
Clinical Profile:
Behavioral/psychiatric evaluation: ADHD. Family history: negative.
Cognitive Profile:
IQ > 70
Kushima I , et al. (2018)Primary Diagnosis: ASD, ADHD
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29640511
CNV End: 30184960
CNV Size: 544450
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kushima_18_ASD_discovery_cases-caseASD0311
Clinical Profile:
Behavioral/psychiatric evaluation: mood disorders. Family history: negative.
Cognitive Profile:
IQ > 70
Kushima I , et al. (2018)Primary Diagnosis: ASD
Age: 26 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29553914
CNV End: 30184960
CNV Size: 631047
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kushima_18_ASD_discovery_cases-caseASD0416
Clinical Profile:
Behavioral/psychiatric evaluation: ADHD, poor emotional control. Family history: positive for epilepsy.
Cognitive Profile:
IQ > 70
Kushima I , et al. (2018)Primary Diagnosis: ASD, ADHD
Age: 11 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Not simplex
CNV Start: 29401125
CNV End: 30312960
CNV Size: 911836
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5
kushima_18_ASD_discovery_cases-caseASD0503
Clinical Profile:
Developmental milestones: motor delay. Motor and musculoskeletal evaluation: motor coordination deficits. Behavioral/psychiatric evaluation: ADHD, mood disorders, manic episodes. Family history: positive for bipolar disorder (BPD).
Cognitive Profile:
Mild intellectual disability
Kushima I , et al. (2018)Primary Diagnosis: ASD, ADHD, ID
Age: 14 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Not simplex
CNV Start: 29640511
CNV End: 30184960
CNV Size: 544450
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kushima_18_ASD_discovery_cases-caseASD1005
Clinical Profile:
Developmental milestones: language delay, motor delay. Family history: positive for intellectual disability (ID).
Cognitive Profile:
IQ > 70
Kushima I , et al. (2018)Primary Diagnosis: ASD, DD
Age: 23 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Not simplex
CNV Start: 29480853
CNV End: 30254620
CNV Size: 773768
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A
kushima_18_SCZ_discovery_cases-caseSCZ0035
Clinical Profile:
Behavioral/psychiatric evaluation: onset of schizophrenia at 26 years of age (core symptoms include auditory hallucinations, persecutory delusions, negative symptoms). Brain imaging: pituitary adenoma on brain MRI. Family history: positive for schizophrenia (SCZ).
Cognitive Profile:
IQ > 70
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia
Age: 31 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Not simplex
CNV Start: 28351819
CNV End: 29325073
CNV Size: 973255
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: MIR6862-1, CDC37P2, APOBR, NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, NPIPB6, EIF3CL, NPIPB7, CLN3, IL27, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, SGF29, EIF3C, ATXN2L, NFATC2IP, RRN3P2, SNX29P2
kushima_18_SCZ_discovery_cases-caseSCZ0110
Clinical Profile:
Behavioral/psychiatric evaluation: onset of schizophrenia at 18 years of age (core symptoms include persecutory hallucinations). Physical comorbidities: subcutaneous tumor. Family history: negative.
Cognitive Profile:
IQ > 70
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia
Age: 18 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29640511
CNV End: 30184960
CNV Size: 544450
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kushima_18_SCZ_discovery_cases-caseSCZ0818
Clinical Profile:
Behavioral/psychiatric evaluation: onset of schizophrenia at 24 years of age (core symptoms include hallucinations, delusions, manic symptoms), mood symptoms. Physical comorbidities: hyperlipidemia. Family history: positive for schizophrenia (SCZ) and intellectual disability (ID).
Cognitive Profile:
Intellectual disability (IQ < 70)
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia, ID
Age: 47 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Not simplex
CNV Start: 29614026
CNV End: 30184960
CNV Size: 570935
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kushima_18_SCZ_discovery_cases-caseSCZ0819
Clinical Profile:
Behavioral/psychiatric evaluation: onset of schizophrenia at 22 years of age (core symptoms include visual hallucinations, reference and persecutory delusions, blunted affect). Brain imaging: basal ganglia calcification on brain CT. Family history: negative.
Cognitive Profile:
IQ > 70
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia
Age: 57 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29627836
CNV End: 30184960
CNV Size: 557125
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kushima_18_SCZ_discovery_cases-caseSCZ1010
Clinical Profile:
No additional clinical information reported for this individual. Family history: unknown.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia
Age: 56 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29627836
CNV End: 30184960
CNV Size: 557125
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kushima_18_SCZ_discovery_cases-caseSCZ2417
Clinical Profile:
No additional clinical information reported for this individual. Family history: unknown.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia
Age: 28 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29480853
CNV End: 30254620
CNV Size: 773768
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A
kushima_22_ASD_discovery_cases-caseASD0195
Clinical Profile:
Diagnosis of ASD according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29640510
CNV End: 30184960
CNV Size: 544451
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, ZG16, KIF22, MAZ, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
kushima_22_ASD_discovery_cases-caseASD0311
Clinical Profile:
Diagnosis of ASD according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29553913
CNV End: 30184960
CNV Size: 631048
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, SMG1P2, ZG16, KIF22, MAZ, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
kushima_22_ASD_discovery_cases-caseASD0416
Clinical Profile:
Diagnosis of ASD according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29401124
CNV End: 30312960
CNV Size: 911837
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, SLX1B, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, NPIPB12, CDIPTOSP, SMG1P2, SMG1P5, BOLA2, SULT1A4, NPIPB13, SLX1A, ZG16, BOLA2B, NPIPB11, KIF22, MAZ, SMG1P6, SLX1A-SULT1A3, SLX1B-SULT1A4, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SULT1A3, SPN, TBX6, RN7SKP127, CORO1A-AS1, BOLA2-SMG1P6, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
kushima_22_ASD_discovery_cases-caseASD0503
Clinical Profile:
Diagnosis of ASD according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29640510
CNV End: 30184960
CNV Size: 544451
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, ZG16, KIF22, MAZ, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
kushima_22_ASD_discovery_cases-caseASD1005
Clinical Profile:
Diagnosis of ASD according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29480852
CNV End: 30254620
CNV Size: 773769
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, NPIPB12, CDIPTOSP, SMG1P2, NPIPB13, SLX1A, ZG16, BOLA2B, KIF22, MAZ, SLX1A-SULT1A3, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SULT1A3, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
kushima_22_BPD_discovery_cases-caseBD0772
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29480852
CNV End: 30186626
CNV Size: 705775
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, NPIPB12, CDIPTOSP, SMG1P2, ZG16, KIF22, MAZ, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
kushima_22_SCZ_discovery_cases-caseSCZ0110
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29640510
CNV End: 30184960
CNV Size: 544451
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, ZG16, KIF22, MAZ, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
laffin_12_CAS_discovery_cases-case2
Clinical Profile:
Years of apraxia treatment: 1. Familial status: positive (one or more nuclear family members with a verbal trait disorder including speech disorder, language disorder, reading disorder, cognitive disability, or learning disability). Language impairment: impairments in language onset, comprehension, and expression. Motor impairment: impairment in oral-nonverbal motor assessment tasks.
Cognitive Profile:
No cognitive impairment
Laffin JJ , et al. (2012)Primary Diagnosis: CAS
Age: 3-6 yrs.
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29612734
CNV End: 30181039
CNV Size: 568306
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kushima_22_SCZ_discovery_cases-caseSCZ0818
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29614025
CNV End: 30184960
CNV Size: 570936
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, ZG16, KIF22, MAZ, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
kushima_22_SCZ_discovery_cases-caseSCZ0819
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29627835
CNV End: 30184960
CNV Size: 557126
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, ZG16, KIF22, MAZ, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
kushima_22_SCZ_discovery_cases-caseSCZ1010
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29627835
CNV End: 30184960
CNV Size: 557126
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, ZG16, KIF22, MAZ, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
kushima_22_SCZ_discovery_cases-caseSCZ2417
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29480852
CNV End: 30254620
CNV Size: 773769
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, NPIPB12, CDIPTOSP, SMG1P2, NPIPB13, SLX1A, ZG16, BOLA2B, KIF22, MAZ, SLX1A-SULT1A3, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SULT1A3, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
leppa_16_ASD_discovery_cases-AU002903
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29635679
CNV End: 30166679
CNV Size: 531001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
leppa_16_ASD_discovery_cases-AU011004
Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Extended multiplex
CNV Start: 29636021
CNV End: 30166486
CNV Size: 530466
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Extended multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
leppa_16_ASD_discovery_cases-AU0154302
Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29636021
CNV End: 30166486
CNV Size: 530466
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
leppa_16_ASD_discovery_cases-AU041905
Clinical Profile:
SRS total score 76
Cognitive Profile:
Raven's non-verbal IQ 108
Leppa VM , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636021
CNV End: 30392537
CNV Size: 756517
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, TBC1D10B, MYLPF, ZNF48, SEPT1, CA5AP1, SEZ6L2, DOC2A, SMG1P5
leppa_16_ASD_discovery_cases-AU0938301
Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636021
CNV End: 30166486
CNV Size: 530466
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
lee_17_ASD/DD/ID/MCA_discovery_cases-case11
Primary Diagnosis: ASD and intellectual disability
Age: 17 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29555974
CNV End: 30166595
CNV Size: 610622
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
lee_17_ASD/DD/ID/MCA_discovery_cases-case12
Clinical Profile:
Developmental delay, hypotonia, failure to thrive
Cognitive Profile:
-
Lee SH and Song WJ (2017)Primary Diagnosis: Developmental delay
Age: 10 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29645871
CNV End: 30181026
CNV Size: 535156
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
lee_17_ASD/DD/ID/MCA_discovery_cases-case18
Clinical Profile:
Seizure, brain anomaly
Cognitive Profile:
Intellectual disability
Lee SH and Song WJ (2017)Primary Diagnosis: Intellectual disability and seizures
Age: 15 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32035200
CNV End: 34012080
CNV Size: 1976881
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV1OR16-1, IGHV1OR16-3, IGHV3OR16-9, ABHD17AP8, TP53TG3D, ACTR3BP3, ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, PABPC1P13, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, BMS1P8, ARHGAP23P1, HERC2P4, HERC2P5
levy_11_ASD_discovery_cases-11090.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29640428
CNV End: 30188680
CNV Size: 548253
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
levy_11_ASD_discovery_cases-11433.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29644857
CNV End: 30188680
CNV Size: 543824
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
levy_11_ASD_discovery_cases-11498.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 34963041
CNV End: 35198814
CNV Size: 235774
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NAMPTP3, VN1R68P, VN1R69P, UBE2MP1, SLC25A1P4, LINC02184, CCNYL3, CLUHP11, VPS35P1
levy_11_ASD_discovery_cases-11540.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29638272
CNV End: 30188680
CNV Size: 550409
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
levy_11_ASD_discovery_cases-11555.p1
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28117284
CNV End: 28257621
CNV Size: 140338
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNY1P10, GAPDHP35, XPO6
levy_11_ASD_discovery_cases-11555.p1
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29640428
CNV End: 30192374
CNV Size: 551947
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
levy_11_ASD_discovery_cases-11680.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29640428
CNV End: 30272839
CNV Size: 632412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
levy_11_ASD_discovery_cases-12010.p1
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29643337
CNV End: 30197294
CNV Size: 553958
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, SEZ6L2, DOC2A
levy_11_ASD_discovery_cases-12100.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29653845
CNV End: 30290560
CNV Size: 636716
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
levy_11_ASD_discovery_cases-12435.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29638272
CNV End: 30188680
CNV Size: 550409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
levy_11_ASD_discovery_cases-12451.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29653845
CNV End: 30192374
CNV Size: 538530
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
levy_11_ASD_discovery_cases-12647.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29638272
CNV End: 30165353
CNV Size: 527082
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
levy_11_ASD_discovery_cases-12736.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29662297
CNV End: 30193859
CNV Size: 531563
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Clinical Profile:
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Cognitive Profile:
Completed secondary school degree with exception of mathematics
Lionel AC , et al. (2013)Primary Diagnosis: ASD
Age: 13 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33604300
CNV End: 33829363
CNV Size: 225064
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, BMS1P8
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Clinical Profile:
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Cognitive Profile:
Completed secondary school degree with exception of mathematics
Lionel AC , et al. (2013)Primary Diagnosis: ASD
Age: 13 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32135565
CNV End: 32623443
CNV Size: 487879
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABHD17AP8, TP53TG3D, ACTR3BP3, ABCD1P3, PABPC1P13, HERC2P4
lob_24_ASD_discovery_cases-caseASD196
Clinical Profile:
Case diagnosed with ASD (ICD-10 code F.84) and also presented with hypotelorism and global developmental delay/intellectual disability.
Cognitive Profile:
Global developmental delay/intellectual disability.
Karen Lob et al. ()Primary Diagnosis: ASD and DD/ID
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28736199
CNV End: 29039870
CNV Size: 303672
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ATP2A1, CD19, LAT, RABEP2, SPNS1, NFATC2IP, NPIPB10P, ATP2A1-AS1, MIR4721, NPIPB9, MIR4517, TUFM, ATXN2L, SH2B1
lob_24_ASD_discovery_cases-caseASD520
Clinical Profile:
Case diagnosed with ASD (ICD-10 code F.84) and also presented with hypotonia, prominent forehead, micrognathia, hypertelorism, mild ptosis, widely spaced nipples, chest asymmetry, low-set thumbs, syndactyly of the 2nd and 3rd toes, pes planus, global developmental delay, self-injurious behavior, sensory processing disorder, and motor stereotypies (this individual has a pathogenic de novo CHD8 nonsense variant).
Cognitive Profile:
-
Karen Lob et al. ()Primary Diagnosis: ASD and developmental delay
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28807707
CNV End: 29039870
CNV Size: 232164
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ATP2A1, CD19, LAT, RABEP2, SPNS1, NFATC2IP, NPIPB10P, ATP2A1-AS1, MIR4721, MIR4517, TUFM, ATXN2L, SH2B1
li_24_ASD/ADHD/DD/ID_discovery_cases-case73
Clinical Profile:
Mild developmental delay/intellectual disability, speech delay, epilepsy, macrocephaly
Cognitive Profile:
Mild developmental delay/intellectual disability
Chengyan Li et al. (2024)Primary Diagnosis: Developmental delay, intellectual disability, and epilepsy
Age: 2.5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29663670
CNV End: 30188280
CNV Size: 524611
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, ZG16, KIF22, MAZ, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
mahjani_21_ASD_discovery_cases-case161
Clinical Profile:
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
Cognitive Profile:
-
Mahjani B et al. (2021)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29641166
CNV End: 30188392
CNV Size: 547227
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ALDOA, SEZ6L2, PAGR1, GDPD3, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, ZG16, MAZ, KIF22, PPP4C, MAPK3, YPEL3-DT, TBX6, SPN, RN7SKP127, KCTD13-DT, CORO1A-AS1, HIRIP3, DOC2A, MVP, TAOK2, CDIPT, CORO1A, QPRT
mahjani_21_ASD_discovery_cases-case162
Clinical Profile:
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
Cognitive Profile:
-
Mahjani B et al. (2021)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584161
CNV End: 30188392
CNV Size: 604232
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, PAGR1, GDPD3, SLC7A5P1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, SMG1P2, CDIPTOSP, ZG16, MAZ, KIF22, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, TBX6, SPN, RN7SKP127, KCTD13-DT, CORO1A-AS1, HIRIP3, DOC2A, MVP, TAOK2, CDIPT, CORO1A, QPRT
mahjani_21_ASD_discovery_cases-case163
Clinical Profile:
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
Cognitive Profile:
-
Mahjani B et al. (2021)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584161
CNV End: 30186830
CNV Size: 602670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, PAGR1, GDPD3, SLC7A5P1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, SMG1P2, CDIPTOSP, ZG16, MAZ, KIF22, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, TBX6, SPN, RN7SKP127, KCTD13-DT, CORO1A-AS1, HIRIP3, DOC2A, MVP, TAOK2, CDIPT, CORO1A, QPRT
mahjani_21_ASD_discovery_cases-case164
Clinical Profile:
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
Cognitive Profile:
-
Mahjani B et al. (2021)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29636020
CNV End: 30152512
CNV Size: 516493
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, PAGR1, GDPD3, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, ZG16, MAZ, KIF22, PPP4C, MAPK3, YPEL3-DT, TBX6, SPN, RN7SKP127, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CDIPT, QPRT
mahjani_21_ASD_discovery_cases-case44
Clinical Profile:
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
Cognitive Profile:
-
Mahjani B et al. (2021)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28814283
CNV End: 29032129
CNV Size: 217847
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ATP2A1, CD19, LAT, RABEP2, SPNS1, NFATC2IP, ATP2A1-AS1, MIR4721, MIR4517, TUFM, ATXN2L, SH2B1
marshall_08_ASD_discovery_cases-MM0088-003
Clinical Profile:
RL/EL moderate delay, severe repetitive behavior, mild dysmorphism
Cognitive Profile:
IQ/LOF 82
Marshall CR , et al. (2008)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29641167
CNV End: 30316996
CNV Size: 675830
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
marshall_08_ASD_discovery_cases-NA0133-000
Clinical Profile:
Moderate language delay and speech unintelligibility, mild repetitive behavior, early motor delay
Cognitive Profile:
IQ/LOF moderate delay
Marshall CR , et al. (2008)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29641167
CNV End: 30166486
CNV Size: 525320
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
marshall_08_ASD_discovery_cases-SK0019-004
Clinical Profile:
Moderate speech unintelligibility, severe repetitive behavior, mild dysmorphism
Cognitive Profile:
IQ/LOF 93
Marshall CR , et al. (2008)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29641167
CNV End: 30316996
CNV Size: 675830
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
marshall_08_ASD_discovery_cases-SK0102-004
Clinical Profile:
RL/EL severe delay, moderate speech unintelligibility and dysmorphism, severe repetitive behavior, epilepsy
Cognitive Profile:
IQ/LOF 39
Marshall CR , et al. (2008)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: -
CNV End: -
CNV Size: 432600
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: NCBI35
Gene Content: -
mak_17_ASD_discovery_cases-case2
Primary Diagnosis: ASD and developmental delay
Age: 18 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28477170
CNV End: 29034963
CNV Size: 557794
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: APOBR, NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, CLN3, IL27, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, SGF29, EIF3C, ATXN2L, NFATC2IP
mccarthy_09_ASD_discovery_cases-AU002903
Clinical Profile:
Weight: 69.40 kg; height: 179.07 cm (CDC Z-score 0.92, Farkas Z-score 0.86); OFC: 54.8 cm (CDC Z-score -0.13, Farkas Z-score -0.99)
Cognitive Profile:
Ravens IQ, 90
McCarthy SE , et al. (2009)Primary Diagnosis: ASD
Age: 15.46
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29640189
CNV End: 30137018
CNV Size: 496830
Validation Description: aCGH (Nimble HD2)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
mccarthy_09_ASD_discovery_cases-AU011004
Clinical Profile:
OFC: 53.5 cm (CDC Z-score 0.20, Farkas Z-score -0.14)
Cognitive Profile:
Ravens IQ, 110
McCarthy SE , et al. (2009)Primary Diagnosis: ASD
Age: 11.04
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29611438
CNV End: 30178709
CNV Size: 567272
Validation Description: aCGH (Nimble HD2)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_ASD_discovery_cases-AU0154302
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29611438
CNV End: 30119373
CNV Size: 507936
Validation Description: aCGH (Nimble HD2)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_ASD_discovery_cases-AU029803
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29615180
CNV End: 30116409
CNV Size: 501230
Validation Description: aCGH (Nimble HD2)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_ASD_discovery_cases-AU032704
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29687304
CNV End: 30089001
CNV Size: 401698
Validation Description: aCGH (Nimble HD2)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, SEZ6L2, DOC2A
mccarthy_09_ASD_discovery_cases-AU041905
Clinical Profile:
Weight: 24.49 kg; height: 124.46 cm (CDC Z-score -0.61, Farkas Z-score -0.02); OFC: 54 cm (CDC Z-score 1.26, Farkas Z-score 1.32)
Cognitive Profile:
Ravens IQ, 108
McCarthy SE , et al. (2009)Primary Diagnosis: ASD
Age: 7.96
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29611438
CNV End: 30295635
CNV Size: 684198
Validation Description: aCGH (Nimble HD2)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
mccarthy_09_ASD_discovery_cases-AU0938301
Clinical Profile:
OFC: 56.5 cm (CDC Z-score 1.23, Farkas Z-score 1.06)
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: ASD
Age: 14
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29611438
CNV End: 30093041
CNV Size: 481604
Validation Description: aCGH (Nimble HD2)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_ASD_discovery_cases-CG20261
Clinical Profile:
Height: 157.48 cm (CDC Z-score -0.95, Farkas Z-score -0.76); OFC: 51.5 cm (CDC Z-score 0.84, Farkas Z-score -0.18)
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: ASD
Age: 5
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641964
CNV End: 30118489
CNV Size: 476526
Validation Description: aCGH (Nimble HD2)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
mccarthy_09_ASD_discovery_cases-JS-2100-3
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641964
CNV End: 30118489
CNV Size: 476526
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
mccarthy_09_BiP_discovery_cases-2201-0
Clinical Profile:
Delusions, thought disorder, grandiose or manic symptoms
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Bipolar disorder
Age: 21
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29534536
CNV End: 30333489
CNV Size: 798954
Validation Description: Agilent 244A
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
mccarthy_09_BiP_discovery_cases-6023_9
Clinical Profile:
Grandiose or manic symptoms, family history
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Bipolar disorder
Age: 17
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30166486
CNV Size: 525320
Validation Description: Affy 500K
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
mccarthy_09_BiP_discovery_cases-8026_1
Clinical Profile:
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, grandiose or manic symptoms, no family history
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Bipolar disorder
Age: 27
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30166486
CNV Size: 525320
Validation Description: Affy 500K
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
mccarthy_09_BiP_discovery_cases-F440_4
Clinical Profile:
Grandiose or manic symptoms, no family history
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Bipolar disorder
Age: 16
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30007179
CNV Size: 366013
Validation Description: Affy 500K
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, SEZ6L2, DOC2A
mccarthy_09_SCZ_discovery_cases-03C15536
Clinical Profile:
Delusions, thought disorder, hallucinations, grandiose or manic symptoms, negative symptoms
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 27
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30166486
CNV Size: 525320
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
mccarthy_09_SCZ_discovery_cases-03C15581
Clinical Profile:
Delusions, thought disorder, hallucinations, grandiose or manic symptoms, negative symptoms. Weight: 99.79 kg; height: 185.42 (CDC Z-score 1.04; Farkas Z-score 1.09)
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 62
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30166486
CNV Size: 525320
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
mccarthy_09_SCZ_discovery_cases-03C15896
Clinical Profile:
Delusions, thought disorder, hallucinations, grandiose or manic symptoms, negative symptoms, family history. Weight: 58.06 kg; height: 182.88 (CDC Z-score 0.71, Farkas Z-score 0.78)
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 44
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29661882
CNV End: 30166486
CNV Size: 504605
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
mccarthy_09_SCZ_discovery_cases-03C18520
Clinical Profile:
Weight: 96.16 kg; height: 175.26 (CDC Z-score -0.25, Farkas Z-score -0.17)
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 23
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30007179
CNV Size: 366013
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, SEZ6L2, DOC2A
mccarthy_09_SCZ_discovery_cases-19326A3
Clinical Profile:
Disorganized or catatonic behavior, grandiose or manic symptoms, family history
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 25
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30308986
CNV Size: 667820
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
mccarthy_09_SCZ_discovery_cases-19328A3
Clinical Profile:
Delusions, thought disorder, disorganized or catatonic behavior
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 22
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30166486
CNV Size: 525320
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
mccarthy_09_SCZ_discovery_cases-19328G5
Clinical Profile:
Delusions, negative symptoms, no family history
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 19
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30007179
CNV Size: 366013
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, SEZ6L2, DOC2A
mccarthy_09_SCZ_discovery_cases-2011
Clinical Profile:
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, family history, no grandiose or manic symptoms, no negative symptoms. Weight: 48.10 kg; height: 152.40 cm (CDC Z-score -1.44, Farkas Z-score -1.44); OFC: 54 cm (CDC Z-score -0.18, Farkas Z-score -0.13)
Cognitive Profile:
WISC performance IQ, 81
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29738583
CNV End: 30316996
CNV Size: 578414
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
mccarthy_09_SCZ_discovery_cases-676
Clinical Profile:
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, grandiose or manic symptoms, negative symptoms, family history. Weight: 34.50 kg; height: 157.50 cm (CDC Z-score 0.00, Farkas Z-score 0.02); OFC: 52.5 cm (CDC Z-score -0.88, Farkas Z-score -0.94)
Cognitive Profile:
WISC performance IQ, 72
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 10
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29733834
CNV End: 30166486
CNV Size: 432653
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
mccarthy_09_SCZ_discovery_cases-AV-27-05
Primary Diagnosis: Schizoaffective Disorder
Age: 28
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29767869
CNV End: 30118489
CNV Size: 350621
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
mccarthy_09_SCZ_discovery_cases-MC235
Clinical Profile:
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, grandiose or manic symptoms, negative symptoms, family history
Cognitive Profile:
Estimated IQ, 80-90
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 21
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29562597
CNV End: 30333489
CNV Size: 770893
Validation Description: Agilent 244A
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
mccarthy_09_SCZ_discovery_cases-NWP-110-02
Clinical Profile:
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, negative symptoms, family history
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 32
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29634955
CNV End: 30186758
CNV Size: 551804
Validation Description: Agilent 244A
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_SCZ_discovery_cases-OX-100-01
Primary Diagnosis: Schizophrenia
Age: 21
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29362874
CNV End: 30288859
CNV Size: 925986
Validation Description: Agilent 244A
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5, SNX29P2
mccarthy_09_SCZ_replication_cases-1669
Clinical Profile:
Delusions, hallucinations, disorganized or catatonic behavior, negative symptoms
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 16
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29569290
CNV End: 30180574
CNV Size: 611285
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_SCZ_replication_cases-37540
Clinical Profile:
Delusions, thought disorder, hallucinations
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 16
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29239594
CNV End: 30119233
CNV Size: 879640
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
mccarthy_09_SCZ_replication_cases-37612
Clinical Profile:
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, negative symptoms
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 21
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29555976
CNV End: 30295635
CNV Size: 739660
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
mccarthy_09_SCZ_replication_cases-38492
Clinical Profile:
Delusions, thought disorder, hallucinations, negative symptoms
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 40
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29580069
CNV End: 30178709
CNV Size: 598641
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_SCZ_replication_cases-38499
Clinical Profile:
Delusions, thought disorder, hallucinations, negative symptoms
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizoaffective Disorder
Age: 15
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29580007
CNV End: 30180574
CNV Size: 600568
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_SCZ_replication_cases-40245
Clinical Profile:
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, negative symptoms
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 19
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29506378
CNV End: 30180574
CNV Size: 674197
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_SCZ_replication_cases-40350
Clinical Profile:
Delusions, thought disroder, hallucinations, disorganized or catatonic behavior, negative symptoms
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 21
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29569781
CNV End: 30139778
CNV Size: 569998
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_SCZ_replication_cases-40832
Clinical Profile:
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, negative symptoms, family history
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizophrenia
Age: 17
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29568701
CNV End: 30165188
CNV Size: 596488
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_SCZ_replication_cases-851
Clinical Profile:
Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, negative symptoms, family history
Cognitive Profile:
NA
McCarthy SE , et al. (2009)Primary Diagnosis: Schizoaffective Disorder
Age: 13
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29568701
CNV End: 30180574
CNV Size: 611874
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mulle_13_SCZ_discovery_cases_1-caseAJ_8050_3
Primary Diagnosis: Schizophrenia
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29580436
CNV End: 30178648
CNV Size: 598213
Validation Description: Solid phase hybridization
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mulle_13_SCZ_discovery_cases_1-caseAJ_8188_1
Clinical Profile:
Family history: affected family member with 16p11.2 duplication (mulle_13_SCZ_discovery_cases-caseAJ_8188_2).
Cognitive Profile:
N/A
Mulle JG , et al. (2013)Primary Diagnosis: Schizophrenia
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Possible multiplex
CNV Start: 29417206
CNV End: 30291295
CNV Size: 874090
Validation Description: Solid phase hybridization
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Possible multiplex
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5
mulle_13_SCZ_discovery_cases_1-caseAJ_8188_2
Clinical Profile:
Family history: affected family member with 16p11.2 duplication (mulle_13_SCZ_discovery_cases-caseAJ_8188_1).
Cognitive Profile:
N/A
Mulle JG , et al. (2013)Primary Diagnosis: Schizophrenia
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Possible multiplex
CNV Start: 29627320
CNV End: 30057532
CNV Size: 430213
Validation Description: Solid phase hybridization
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Possible multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, CA5AP1, SEZ6L2, DOC2A
mulle_13_SCZ_discovery_cases_1-caseAJ_8951_2
Primary Diagnosis: Schizophrenia
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29417206
CNV End: 30166486
CNV Size: 749281
Validation Description: Solid phase hybridization
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
moreira_14_ASD/EP_discovery_cases-case4
Clinical Profile:
Language and communication evaluation: few words. Motor and musculoskeletal evaluation: restriction of extension, elbows and knees. Epilepsy/seizures: none. Other features: hyperlordosis. Dysmorphic features: epicanthus, short philtrum, thick lips. Growth parameters: height of 166 cm (50th-75th %ile), weight of 52 kg (10th-25th %ile), and head circumference of 54 cm (25th-50th %ile).
Cognitive Profile:
-
Moreira DP , et al. (2014)Primary Diagnosis: ASD
Age: 21 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29685652
CNV End: 30180586
CNV Size: 494935
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
moreira_14_ASD/EP_discovery_cases-case5
Clinical Profile:
Developmental milestones: developmental delay/regression. Language and communication evaluation: few words. Epilepsy/seizures: none. Dysmorphic features: brachycephaly. Growth parameters: height of 165 cm (5th-10th %ile), weight of 48 kg (<3rd %ile), and head circumference of 55.5 cm (50th-75th %ile).
Cognitive Profile:
-
Moreira DP , et al. (2014)Primary Diagnosis: ASD
Age: 17 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29506378
CNV End: 30180574
CNV Size: 674197
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
moreira_14_ASD/EP_discovery_cases-case6
Clinical Profile:
Language and communication evaluation: short phrases. Motor and musculoskeletal evaluation: hypotonia. Epilepsy/seizures: none. Dysmorphic features: none reported. Growth parameters: height of 148 cm (>97th %ile), weight of 36 kg (75th-90th %ile), and head circumference of 53 cm (25th-50th %ile).
Cognitive Profile:
-
Moreira DP , et al. (2014)Primary Diagnosis: ASD
Age: 9 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29602174
CNV End: 30178709
CNV Size: 576536
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
moreira_14_ASD/EP_discovery_cases-case7
Clinical Profile:
Language and communication evaluation: short phrases. Motor and musculoskeletal evaluation: hypotonia. Epilepsy/seizures: none. Dysmorphic features: none reported. Growth parameters: height of 171 cm (25th %ile), weight of 49.6 kg (3rd-5th %ile), and head circumference of 56 cm (50th-75th %ile).
Cognitive Profile:
-
Moreira DP , et al. (2014)Primary Diagnosis: ASD
Age: 17 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29390980
CNV End: 30215610
CNV Size: 824631
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
moreira_14_ASD/EP_discovery_cases-case8
Clinical Profile:
Language and communication evaluation: absent speech. Epilepsy/seizures: none. Dysmorphic features: deep set ears/prominent or large ears, epicanthus. Growth parameters: height of 113 cm (75th-90th %ile), weight of 19 kg (50th-75th %ile), and head circumference of 52 cm (75th %ile).
Cognitive Profile:
-
Moreira DP , et al. (2014)Primary Diagnosis: ASD
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29506378
CNV End: 30180574
CNV Size: 674197
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
mosca_16_DCD_discovery_cases-case111203
Clinical Profile:
Ancestry: European. Family history: maternal diagnosis DCD and reading disorder; paternal diagnosis unknown.
Cognitive Profile:
-
Mosca SJ , et al. (2016)Primary Diagnosis: DCD/ADHD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: 29570443
CNV End: 30188258
CNV Size: 617816
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (paternal DNA not available)
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
munnich_19_ASD_discovery_cases-case11
Clinical Profile:
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
Cognitive Profile:
-
Munnich A , et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28531783
CNV End: 29122414
CNV Size: 590632
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, SGF29, EIF3C, ATXN2L, NFATC2IP, RRN3P2
miyake_23_ASD_discovery_cases-case11159
Clinical Profile:
Case clinically diagnosed with ASD based on DSM-V criteria.
Cognitive Profile:
-
Miyake N et al. (2023)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29633329
CNV End: 30188525
CNV Size: 555197
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, ZG16, KIF22, MAZ, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
newbury_12_ASD/CAS_discovery_cases-case1
Clinical Profile:
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
Cognitive Profile:
-
Newbury DF , et al. (2012)Primary Diagnosis: PDD-NOS and CAS
Age: 14 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29641678
CNV End: 30188030
CNV Size: 546353
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
newbury_12_ASD/CAS_discovery_cases-case1
Clinical Profile:
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
Cognitive Profile:
-
Newbury DF , et al. (2012)Primary Diagnosis: PDD-NOS and CAS
Age: 14 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32562487
CNV End: 32634639
CNV Size: 72153
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251690
Clinical Profile:
Database: DECIPHER. Indication for study: intellectual disability/developmental delay
Cognitive Profile:
Developmental delay/intellectual disability
Nguyen LS , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28813457
CNV End: 29073455
CNV Size: 259999
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
nava_13_ASD_discovery_cases-Fam1122Proband10785
Clinical Profile:
Developmental milestones: age of walking of <2 yrs, langauge delay. Epilepsy/seizures: yes (generalized). Neurological examination: hands shaking. Other features: GERD. Dysmorphic features: none. Growth parameters: height -0.5 SD, weight +1 SD, head circumference +2 SD.
Cognitive Profile:
ID (moderate-to-severe)
Nava C , et al. (2013)Primary Diagnosis: ASD
Age: 19 yrs. 7 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29622891
CNV End: 30316996
CNV Size: 694106
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
nava_13_ASD_discovery_cases-Fam1188Proband11385
Clinical Profile:
Developmental milestones: age of walking of <2.5 years, language delay. Epilepsy/seizures: none. Neurological examination: normal. Dysmorphic features: none. Growth parameters: height +1 SD, weight -2 SD, head circumference -2 SD.
Cognitive Profile:
ID
Nava C , et al. (2013)Primary Diagnosis: ASD
Age: 7 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29622891
CNV End: 30188484
CNV Size: 565594
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
nava_13_ASD_discovery_cases-Fam845Proband10017
Clinical Profile:
Developmental milestones: age of walking at 17 months. Language and communication evaluation: normal language. Neurological examination: normal. Epilepsy/seizures: none. Other features: OCD. Dysmorphic features: enophtalmia, anteverted nostrils, bulbous nose. Growth parameters: height +0.5 SD, weight -0.5 SD, head circumference +1.5 SD.
Cognitive Profile:
ID (mild)
Nava C , et al. (2013)Primary Diagnosis: ASD
Age: 16 yrs. 3 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29636021
CNV End: 30316996
CNV Size: 680976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
nava_13_ASD_discovery_cases-Fam885Proband9988
Clinical Profile:
Developmental milestones: age of walking of 12 months, language delay. Epilepsy/seizures: yes (temporal). Neurological examination: normal. Dysmorphic features: epicanthus. Growth parameters: height +1 SD, weight +3 SD, head circumference +1 SD.
Cognitive Profile:
No ID
Nava C , et al. (2013)Primary Diagnosis: ASD
Age: 10 yrs. 2 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29636021
CNV End: 30188484
CNV Size: 552464
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
o'roak_12_ASD_discovery_cases-case13335.p1
Clinical Profile:
Case also identified with de novo ACP2 and ZNF420 missense mutations. No additional clinical info available.
Cognitive Profile:
Low IQ. Non verbal IQ, 25
O'Roak BJ , et al. (2012)Primary Diagnosis: ASD/Autism
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 29584162
CNV End: 30188576
CNV Size: 604415
Validation Description: aCGH, Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
oikonomakis_16_ASD_discovery_cases-case40
Clinical Profile:
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, strabismus, iris colobomata, atrial septal defect
Cognitive Profile:
-
Oikonomakis V , et al. (2016)Primary Diagnosis: ASD
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29653208
CNV End: 30187279
CNV Size: 534072
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
oikonomakis_16_ASD_discovery_cases-case444
Clinical Profile:
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: dolichocephaly, obesity
Cognitive Profile:
-
Oikonomakis V , et al. (2016)Primary Diagnosis: ASD
Age: 6 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29641678
CNV End: 30187279
CNV Size: 545602
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
pebrel-richard_13_DD_discovery_cases-case1
Clinical Profile:
Birth/neonatal history: uneventful pregnancy and delivery; birth weight -2 SD, length -0.5 SD, OFC -0.5 SD; neonatal hypotonia. Developmental milestones: able to hold head at 4 months, sitting along at 13 months, able to walk after 2 years; delayed speech development. Motor ans musculoskeletal evaluation: recently presented wth ataxia; suffered from severe fatigability. Behavioral/psychiatric evaluation: bulimic symptomatology; behavioral difficulties with aggressive crisis in case of frustration. Sleep disturbances: reported sleeping troubles with very early wake-up. Brain imaging: no anomalies on brain MRI. Vision and hearing: acute visual impairment with retinis pigmentosa and progressive visual loss appeared at age of 9 years; retinal examination showe pale optic disc with narrowing of vessels and bone spicular pigmentations in peripheral retina. Additional medical history: recently presented with peripheral neuropathy; chronic constipation. Dysmorphic features: gynecoid obesity with purple stretch marks on pelvic bones; no other dysmorphic features. Growth parameters: weight of 64.4 kg (+1 SD), height of 1.68 m (median) and head circumference of 55 cm (median) at 16 years of age. Family history: second child of non-consanguineous and healthy parents, with no relevant family history. Additional genetic evaluation: case also identified with paternally-inherited 1.02-kb deletion within the CLN3 gene (c.461_677del).
Cognitive Profile:
-
Pebrel-Richard C , et al. (2013)Primary Diagnosis: Developmental delay
Age: 16 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28480604
CNV End: 30179388
CNV Size: 1698785
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo, maternal chromosome
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: APOBR, NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CLN3, IL27, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SGF29, EIF3C, ATXN2L, NFATC2IP, RRN3P2, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
Clinical Profile:
Developmental milestones: mild delay in walking (18 months); language regression after 2.5 years of age. Language and communication evaluation: non-verbal autism. Behavioral/psychiatric evaluation: non-verbal autism; OCD; irritability; mood disorder; stereotypies. Family history: father affected by mood disorder, anxiety, and chronic alcoholism; father's cousin affected by language delay; mother with autoimmune connective tissue disease.
Cognitive Profile:
Severe intellectual disability
Picinelli C , et al. (2016)Primary Diagnosis: ASD and intellectual disability
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: 35218215
CNV End: 35492978
CNV Size: 274764
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: RARRES2P5, FGFR3P5, FRG2JP, RARRES2P6, AGGF1P8, FRG2HP, RARRES2P9, AGGF1P9, C2orf69P4, FRG2GP, RARRES2P7, AGGF1P5, C2orf69P3, ZNF971P, FRG2DP, RARRES2P10, AGGF1P6, C2orf69P2, FRG2IP, LINC01566, AGGF1P4
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
Clinical Profile:
Case met diagnostic criteria for ASD with both ADOS and ADI scores falling into the autism spectrum range. Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: normal motor development; delay in expressive language. Behavioral/psychiatric evaluation: anxiety; OCD; attention deficit disorder (ADD). Family history: mother suffers from major depression, psoriasis, and eating disorder; father's family includes one case of intellectual disability, a paternal grandmother affected by depression and autoimmune thyroiditis, and a paternal uncle diagnosed with OCD.
Cognitive Profile:
Mild intellectual disability (TIQ score of 64); memory impairment
Picinelli C , et al. (2016)Primary Diagnosis: ASD and intellectual disability
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: 32562487
CNV End: 34158766
CNV Size: 1596280
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, DUX4L45, PCMTD1P2, DUX4L46, DUX4L47, LINC00273, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, BMS1P8, ARHGAP23P1, HERC2P5
pfundt_16_NDD_discovery_cases-case1
Clinical Profile:
Disease cohort: neurodevelopmental disorder. Description: De novo 16p11.2 microdeletion syndrome
Cognitive Profile:
-
Pfundt R , et al. (2016)Primary Diagnosis: NDD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29302286
CNV End: 30353096
CNV Size: 1050811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5, SNX29P2
pfundt_16_NDD_discovery_cases-case123
Clinical Profile:
Disease cohort: neurodevelopmental disorder. Description: 16p11.2-p12.2 microdeletion syndrome
Cognitive Profile:
-
Pfundt R , et al. (2016)Primary Diagnosis: NDD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29326346
CNV End: 30188250
CNV Size: 861905
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SNX29P2
pfundt_16_NDD_discovery_cases-case60
Clinical Profile:
Disease cohort: neurodevelopmental disorder. Description: atypical 16p11.2 deletion
Cognitive Profile:
-
Pfundt R , et al. (2016)Primary Diagnosis: NDD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28317384
CNV End: 30261611
CNV Size: 1944228
Validation Description: Array SNP (Affymetrix CytoScan HD)
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6862-1, CDC37P2, APOBR, NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, NPIPB6, EIF3CL, NPIPB7, CLN3, IL27, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SGF29, EIF3C, ATXN2L, NFATC2IP, RRN3P2, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SBK1, SNX29P2
pfundt_16_NDD_discovery_cases-case67
Clinical Profile:
Disease cohort: neurodevelopmental disorder. Description: atypical de novo deletion 16p11.2-p12.2
Cognitive Profile:
-
Pfundt R , et al. (2016)Primary Diagnosis: NDD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28318994
CNV End: 28596481
CNV Size: 277488
Validation Description: Array SNP (Affymetrix CytoScan HD)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6862-1, CDC37P2, APOBR, NUPR1, SULT1A2, NPIPB6, EIF3CL, NPIPB7, CLN3, IL27, SGF29, SBK1
pfundt_16_nonNDD_discovery_cases-case7
Clinical Profile:
Disease cohort: blindness. Description: 16p11.2-p12.2 microdeletion syndrome
Cognitive Profile:
-
Pfundt R , et al. (2016)Primary Diagnosis: Non-NDD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29312349
CNV End: 30353096
CNV Size: 1040748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5, SNX29P2
pinto_10_ASD_discovery_cases-case3211_003
Clinical Profile:
No language delay, height P97, head circumference P50, epicanthus, steepled palate, physical and neurological exam otherwise normal; 16p11.2 microduplication syndrome
Cognitive Profile:
Normal IQ
Pinto D , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29584162
CNV End: 30208204
CNV Size: 624043
Validation Description: qPCR-Maternal
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
pinto_10_ASD_discovery_cases-case5068_3
Clinical Profile:
Language delay, motor delay, neurologic assessment negaNve, adherent ear lobes; 16p11.2 microdeletion syndrome, 50% mosaicism
Cognitive Profile:
Low average IQ
Pinto D , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29584162
CNV End: 30208204
CNV Size: 624043
Validation Description: qPCR-Denovo,Affy500K,Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
pinto_10_ASD_discovery_cases-case5139_3
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 32478126
CNV End: 33672693
CNV Size: 1194568
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, HERC2P5
pinto_10_ASD_discovery_cases-case5245_3
Clinical Profile:
Language delay, below average language (1%ile), apraxia, abnormal sleep EEG without seizures; born at 29 wks, intraventricular hemorrhage, mild cerebral palsy; alopecia areata, no dysmorphic features
Cognitive Profile:
Below average nonverbal IQ (<1%ile)
Pinto D , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 32396948
CNV End: 33194468
CNV Size: 797521
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (p_denovo_Ambiguous)
Family Profile: NA
Genome Build: Unknown
Gene Content: LOC440366, LOC729355, SLC6A10P, TP53TG3
pinto_10_ASD_discovery_cases-case5262_4
Clinical Profile:
Anxiety symptoms, below average language (<1%ile), cleft palate, congenital diaphragmatic hernia, epilepsy, recurrent ear infections, short stature, alopecia in left parietal area, hypertelorism, epicanthic folds, small ears with curved pinnae, smooth philtrum, 5th finger clinodactyly, hyperextensibility, scoliosis; 16p11.2 microdeletion syndrome
Cognitive Profile:
Below average nonverbal IQ (4%ile)
Pinto D , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29584162
CNV End: 30292027
CNV Size: 707866
Validation Description: qPCR-Denovo,Affy500K,Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
pinto_10_ASD_discovery_cases-case5359_4
Clinical Profile:
Anxiety disorder, sleep disturbance, delayed early language development but average language abilities, obese, macrocephaly, dysmorphic features, 23 toe syndactyly, micropenis, hemivertebra (T10); brain CT normal; 16p11.2 microdeletion syndrome
Cognitive Profile:
Average IQ
Pinto D , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29636021
CNV End: 30276402
CNV Size: 640382
Validation Description: qPCR-Denovo,Affy500K,Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
pinto_10_ASD_discovery_cases-case5382_3
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 28811452
CNV End: 29032129
CNV Size: 220678
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
pinto_10_ASD_discovery_cases-case5416_3
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 32478126
CNV End: 33371260
CNV Size: 893135
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, HERC2P5
pinto_10_ASD_discovery_cases-case5426_3
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 33207121
CNV End: 33676809
CNV Size: 469689
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -
pinto_14_ASD_discovery_cases2-case20089_1391001
Clinical Profile:
Autism on ADI-R and ADOS, no language delay, normal appearance, normal head circumference, normal reflexes and gait, no epilepsy. Family history: unaffected younger dizygotic twins (not tested). Father: SRS total 18; VIQ 106, PIQ 112, FSIQ 109, age at birth of child 23 y; diagnostic testing for hyperactivity as a child; head circumference 55.3 cm, height 181 cm. Mother: SRS total 28; VIQ 103, PIQ 120, FSIQ 112, age at birth of child 20 y; on SSRIs for OCD, speech problems, reports delayed language as a child, allergies; head circumference 54.5 cm, height 166 cm
Cognitive Profile:
Average IQ (90)
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29584162
CNV End: 30188484
CNV Size: 604323
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
pinto_14_ASD_discovery_cases2-case20127_4014001
Clinical Profile:
Autism on ADI-R and ADOS, delayed language, verbal, allergies, anxiety, depression, no dysmorphic features, head circumference 99%ile, possible visual saccades during a smooth pursuit eye task, normal reflexes, mildly uncoordinated when walking and running, no seizures. Family history: father with normal IQ (97), hearing problem present from childhood, and learning difficulties with reading requiring tutoring; no siblings.
Cognitive Profile:
Average IQ (92)
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: Possibly paternal
Family Profile: Simplex
CNV Start: 29636021
CNV End: 30212040
CNV Size: 576020
Validation Description: qPCR
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
pinto_14_ASD_discovery_cases2-case2204_1
Clinical Profile:
Atypical PDD/Asperger (autism on ADI-R, ASD on ADOS), verbal, overweight, no dysmorphic features, macrocephaly (+3.6 SD), myopia, no epilepsy, brain MRI normal. Family history: both parents unaffected; 3 unaffected paternal half-siblings (no DNA).
Cognitive Profile:
Vineland Adaptive Behavior Composite score 50
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29547747
CNV End: 30228207
CNV Size: 680461
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A
pinto_14_ASD_discovery_cases2-case3544_3
Clinical Profile:
ASD/PDD-NOS diagnosis, language delay, significant articulation and other language problems until at least age 8 y. Slightly low tone in limbs, some motor coordination difficulties. Bowel problems, delayed continence, bloating, foul-smelling stools; investigations found no explanation. No regression, no seizures. Family history: N/A.
Cognitive Profile:
Average verbal and performance ability (British Picture Vocabulary Scale at 8 y 4 mo: VIQ 88)
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: 8 yrs. 4 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29581036
CNV End: 30188484
CNV Size: 607449
Validation Description: Validation not attempted (visual inspection)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
pinto_14_ASD_discovery_cases2-case4030_1
Clinical Profile:
Autism (based on medical history and ADI-R), verbal with history of expressive language delay, ADHD, depression; history of recurring ear infections, sinus surgery at 4 y, no dysmorphic features. Family history: affected sibling (no CNV); mother with speech delay until age 4 and depression; father with academic difficulties, aloofness, and poor social judgment.
Cognitive Profile:
Average IQ (StanfordBinet at 4 y: FSIQ 90; WISC-III: VIQ 91, PIQ 80, FSIQ 84)
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29636021
CNV End: 30188484
CNV Size: 552464
Validation Description: qPCR (Griswold et al. 2011, PMID: 21360829)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
poultney_13_ASD_discovery_cases-case00HI1465A
Clinical Profile:
ASD case from AGRE (AGRE ID AU032706; NDAR ID NDAR_INVTU259PHM)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 29663727
CNV End: 30188578
CNV Size: 524852
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
poultney_13_ASD_discovery_cases-case00HI1739A
Clinical Profile:
ASD case from AGRE (AGRE ID AU066204; NDAR ID NDAR_INVPW001PZX)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 31465850
CNV End: 31476564
CNV Size: 10715
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: ARMC5, TGFB1I1
poultney_13_ASD_discovery_cases-case03HI2710A
Clinical Profile:
ASD case from AGRE (AGRE ID AU1033302; NDAR ID NDAR_INVYB503ADW)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 28595781
CNV End: 28701613
CNV Size: 105833
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: SULT1A2, CDC37P1, SULT1A1, NPIPB8, EIF3C
poultney_13_ASD_discovery_cases-case05HI3865A
Clinical Profile:
ASD case from AGRE (AGRE ID AU1446301; NDAR ID NDAR_INVMG325CK2)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 30983633
CNV End: 31039653
CNV Size: 56021
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: HSD3B7, STX4, SETD1A, STX1B
poultney_13_ASD_discovery_cases-case98HI0624B
Clinical Profile:
ASD case from AGRE (AGRE ID AU029803; NDAR ID NDAR_INVCC267GVQ)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 29663727
CNV End: 30188578
CNV Size: 524852
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
poultney_13_ASD_discovery_cases-case98HI0646A
Clinical Profile:
ASD case from AGRE (AGRE ID AU041905; NDAR ID NDAR_INVXB532PBE)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 29663727
CNV End: 30188578
CNV Size: 524852
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
pinto_14_ASD_discovery_cases2-case4436_1
Clinical Profile:
ASD (ADI-R autism, ADOS not autism or ASD), no language delay (first words and phrases 15 mo), verbal. Family history: N/A.
Cognitive Profile:
WISC-IV at 8 y 8 mo: VIQ 95, PIQ 67, FSIQ 76
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: 8 yrs. 8 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28802777
CNV End: 29038333
CNV Size: 235557
Validation Description: Validation not attempted
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
prasad_12_ASD_discovery_cases-case100564
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29560300
CNV End: 30107008
CNV Size: 546709
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: DOC2A, ASPHD1, LOC440356, CORO1A, TBX6, LOC100271831, CDIPT, QPRT, YPEL3, PPP4C, MAPK3, SPN, MVP, FAM57B, ZG16, ALDOA, INO80E, SEZ6L2, TAOK2, KCTD13, MAZ, PRRT2, GDPD3, C16orf92, C16orf53, TMEM219, C16orf54, HIRIP3
prasad_12_ASD_discovery_cases-case100677L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29560500
CNV End: 30099759
CNV Size: 539260
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: DOC2A, ASPHD1, LOC440356, TBX6, LOC100271831, CDIPT, QPRT, YPEL3, PPP4C, MAPK3, SPN, MVP, FAM57B, ZG16, ALDOA, INO80E, SEZ6L2, TAOK2, KCTD13, MAZ, PRRT2, GDPD3, C16orf92, C16orf53, TMEM219, C16orf54, HIRIP3
prasad_12_ASD_discovery_cases-case121851
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29238604
CNV End: 30107008
CNV Size: 868405
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: DOC2A, ASPHD1, LOC440356, LOC440354, CORO1A, TBX6, SLX1B-SULT1A4, LOC100271831, LOC388242, CDIPT, QPRT, YPEL3, SLX1A, SEZ6L2, PPP4C, SLX1B, MAPK3, SPN, LOC606724, BOLA2B, MVP, FAM57B, RUNDC2C, SULT1A4, ZG16, SULT1A3, ALDOA, INO80E, SLC7A5P1, TAOK2, KCTD13, LOC613038, SLX1A-SULT1A3, MAZ, PRRT2, GDPD3, C16orf92, C16orf53, TMEM219, BOLA2, C16orf54, HIRIP3
prasad_12_ASD_discovery_cases-case168999
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31472112
CNV End: 31542372
CNV Size: 70261
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
prasad_12_ASD_discovery_cases-case32794
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28732095
CNV End: 28952418
CNV Size: 220324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: ATXN2L, ATP2A1, NFATC2IP, SPNS1, RABEP2, SH2B1, LAT, TUFM, CD19
prasad_12_ASD_discovery_cases-case45562
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29560300
CNV End: 30107008
CNV Size: 546709
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: DOC2A, ASPHD1, LOC440356, CORO1A, TBX6, LOC100271831, CDIPT, QPRT, YPEL3, PPP4C, MAPK3, SPN, MVP, FAM57B, ZG16, ALDOA, INO80E, SEZ6L2, TAOK2, KCTD13, MAZ, PRRT2, GDPD3, C16orf92, C16orf53, TMEM219, C16orf54, HIRIP3
prasad_12_ASD_discovery_cases-case47932
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29560300
CNV End: 30107008
CNV Size: 546709
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: DOC2A, ASPHD1, LOC440356, CORO1A, TBX6, LOC100271831, CDIPT, QPRT, YPEL3, PPP4C, MAPK3, SPN, MVP, FAM57B, ZG16, ALDOA, INO80E, SEZ6L2, TAOK2, KCTD13, MAZ, PRRT2, GDPD3, C16orf92, C16orf53, TMEM219, C16orf54, HIRIP3
prasad_12_ASD_discovery_cases-case54650
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28732095
CNV End: 28952418
CNV Size: 220324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: ATXN2L, ATP2A1, NFATC2IP, SPNS1, RABEP2, SH2B1, LAT, TUFM, CD19
prasad_12_ASD_discovery_cases-case62246-L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31384336
CNV End: 31396929
CNV Size: 12594
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: TGFB1I1, ARMC5
raca_12_CAS_discovery_cases-case1
Clinical Profile:
Language assessment (using Oral and Written Language Scales): no impairments in listening comprehension, oral expression, or oral composite (Listening Comprehension score of 100; Oral Expression score of 92; Oral Composite score of 95). Speech processing assessment (using Syllable Repetition Task/SRT): impairments in speech processing and speech production. Oral mechanism evaluation: no impairments in oral structure or function. Motor evaluation: history of gross motor impairment by parent report; no impairment in oral-nonverbal motor function. Developmental evaluation: reported history within typical limits; case on antidepressant medication and has reportedly experienced social difficulties.
Cognitive Profile:
Assessment using Kaufman Brief Intelligence Test, 2nd ed.: nonverbal score of 108; verbal performance score of 96; composite IQ score of 103 (within typical limits)
Raca G , et al. (2012)Primary Diagnosis: Childhood apraxia of speech (CAS) and autistic features
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29618847
CNV End: 30181060
CNV Size: 562214
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
raca_12_CAS_discovery_cases-case2
Clinical Profile:
Language assessment (using Oral and Written Language Scales): no impairments in listening comprehension, impairments in oral expression and oral composite scores (Listening Comprehension score of 96; Oral Expression score of 71; Oral Composite score of 82). Speech processing assessment (using Syllable Repetition Task/SRT): impairments in speech processing and production. Oral mechanism evaluation: no impairments in oral structure or function. Motor evaluation: history of gross motor impairment by parent report, impairment in oral-nonverbal motor function. Developmental evaluation: reported history within typical limits; case on medication for ADHD and behavioral issues.
Cognitive Profile:
Assessment using Kaufman Brief Intelligence Test, 2nd ed.: nonverbal score of 79; verbal performance score of 90; composite IQ score of 82 (below typical limits).
Raca G , et al. (2012)Primary Diagnosis: Childhood apraxia of speech (CAS) and ADHD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
reinthaler_14_EP_discovery_cases-caseF1-II.1
Clinical Profile:
Epilepsy phenotype: atypical rolandic epilepsy (atypical benign partial epilepsy of childhood/Landau-Kleffner syndrome). Seizures: febrile seizures (age of onset, 1.0 yr.); generalized tonic-clonic seizures (age of onset, 3.0 yrs.). EEG: electrical status epilepticus during slow sleep. MRT/CT: normal. Neuropsychological development: severe delay. Language development: severe delay, speech regression. Additional genetic information: case also carries maternally-inherited GRIN2A missense variant. Family history: two siblings with centrotemporal spikes on EEG (1/2 positive for 16p11.2 duplication; both affected siblings are positive for maternally-inherited GRIN2A missense variant); unaffected parents.
Cognitive Profile:
Severe developmental delay
Reinthaler EM , et al. (2014)Primary Diagnosis: Epilepsy and developmental delay
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: qRT-PCR and aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
reinthaler_14_EP_discovery_cases-caseF2-III.1
Clinical Profile:
Epilepsy phenotype: rolandic epilepsy. Seizures: nocturnal tonic-clonic seizures, Rolandic seizures (age of onset, 2.5 yrs.). EEG: centrotemporal spikes. MRT/CT: normal. Neuropsychological development: normal. Language development: normal. Family history: mother presents with rolandic epilepsy (positive for 16p11.2 duplication).
Cognitive Profile:
-
Reinthaler EM , et al. (2014)Primary Diagnosis: Epilepsy
Age: N/A
Gender: M
Primary Disorder Inheritence: Maternal
Family Profile: Multi-generational
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: qRT-PCR and aCGH
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
reinthaler_14_EP_discovery_cases-caseF3-II.1
Clinical Profile:
Epilepsy phenotype: rolandic epilepsy. Seizures: febrile seizures (age of onset, 0.5 yrs.); nocturnal tonic-clonic seizures (age of onset, 5 yrs.). EEG: centrotemporal spikes. MRT/CT: normal. Neuropsychological development: normal. Language development: normal. Family history: negative. Additional genetic information: case also carried 22q11.21 duplication.
Cognitive Profile:
-
Reinthaler EM , et al. (2014)Primary Diagnosis: Epilepsy
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: qRT-PCR and aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
reinthaler_14_EP_discovery_cases-caseF4-II.1
Clinical Profile:
Epilepsy phenotype: rolandic epilepsy. Seizures: tonic-clonic seizures (age of onset, 5 yrs.). EEG: centrotemporal spikes, transient electrical status epilepticus during slow sleep. MRT/CT: normal. Neuropsychological development: normal. Language development: normal. Family history: negative.
Cognitive Profile:
-
Reinthaler EM , et al. (2014)Primary Diagnosis: Epilepsy
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: qRT-PCR and aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
reinthaler_14_EP_discovery_cases-caseF5-II.1
Clinical Profile:
Epilepsy phenotype: rolandic epilepsy. Seizures: febrile seizures (age of onset, 1.6 yrs.); tonic-clonic seizures and Rolandic seizures (age of onset, 5.5 yrs.). EEG: centrotemporal spikes. MRT/CT: normal. Neuropsychological development: normal. Language development: normal. Family history: father presents with febrile seizures (positive for 16p11.2 duplication).
Cognitive Profile:
-
Reinthaler EM , et al. (2014)Primary Diagnosis: Epilepsy
Age: N/A
Gender: F
Primary Disorder Inheritence: Paternal
Family Profile: Multi-generational
CNV Start: 29638679
CNV End: 29748679
CNV Size: 110001
Validation Description: -
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, QPRT
reinthaler_14_EP_replication_cases-caseF6-I.1
Clinical Profile:
Epilepsy phenotype: rolandic epilepsy. Seizures: nocturnal tonic-clonic seizures, starring (age of onset, 6 yrs.). EEG: centrotemporal spikes. MRT/CT: normal. Neuropsychiatric development: normal. Language development: normal. Family history: negative.
Cognitive Profile:
-
Reinthaler EM , et al. (2014)Primary Diagnosis: Epilepsy
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
quintela_17_DD/ID_discovery_cases-caseID_134
Clinical Profile:
Additional clinical information N/A
Cognitive Profile:
Intellectual disability
Quintela I , et al. (2017)Primary Diagnosis: Intellectual disability
Age: 13 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29401570
CNV End: 30228906
CNV Size: 827337
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A
quintela_17_DD/ID_discovery_cases-caseID_144
Clinical Profile:
Additional clinical information N/A
Cognitive Profile:
Intellectual disability
Quintela I , et al. (2017)Primary Diagnosis: Intellectual disability
Age: 10 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29555974
CNV End: 30166595
CNV Size: 610622
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
quintela_17_DD/ID_discovery_cases-caseID_206
Clinical Profile:
Holoprosencephaly. CNV inherited from unaffected parent.
Cognitive Profile:
Intellectual disability
Quintela I , et al. (2017)Primary Diagnosis: Intellectual disability
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29604627
CNV End: 30165919
CNV Size: 561293
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
quintela_17_DD/ID_discovery_cases-caseID_225
Primary Diagnosis: ASD and intellectual disability
Age: 11 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29555974
CNV End: 30166595
CNV Size: 610622
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
quintela_17_DD/ID_discovery_cases-caseID_28
Clinical Profile:
Language delay. Incomplete parental clinical history.
Cognitive Profile:
Intellectual disability
Quintela I , et al. (2017)Primary Diagnosis: Intellectual disability
Age: 13 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29555974
CNV End: 30166595
CNV Size: 610622
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
quintela_17_DD/ID_discovery_cases-caseID_355
Clinical Profile:
Additional clinical information N/A
Cognitive Profile:
Mild intellectual disability
Quintela I , et al. (2017)Primary Diagnosis: Intellectual disability
Age: 7 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29555974
CNV End: 30309999
CNV Size: 754026
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
quintela_17_DD/ID_discovery_cases-caseID_364
Clinical Profile:
ADHD (combined type). CNV inherited from unaffected parent.
Cognitive Profile:
Intellectual disability
Quintela I , et al. (2017)Primary Diagnosis: Intellectual disability and ADHD
Age: 9 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29568699
CNV End: 30228906
CNV Size: 660208
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A
quintela_17_DD/ID_discovery_cases-caseID_412
Clinical Profile:
Dysmorphic facial features
Cognitive Profile:
Global developmental delay
Quintela I , et al. (2017)Primary Diagnosis: Developmental delay
Age: 2 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29401570
CNV End: 30309999
CNV Size: 908430
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5
quintela_17_DD/ID_discovery_cases-caseID_433
Primary Diagnosis: Intellectual disability and ADHD
Age: 15 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29568699
CNV End: 30166678
CNV Size: 597980
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
quintela_17_DD/ID_discovery_cases-caseID_498
Primary Diagnosis: ASD and intellectual disability
Age: 4 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29579757
CNV End: 30165919
CNV Size: 586163
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH8
Clinical Profile:
Developmental milestones: speech delay. Motor and musculoskeletal evaluation: 2-3 toe syndactyly, clinodactyly. Epilepsy/seizures: seizures. Family history: father with a history of childhood seizures and speech problems, sister with speech delay and seizures, paternal first cousin once removed with intellectual disability.
Cognitive Profile:
-
Repnikova EA , et al. (2019)Primary Diagnosis: Seizures and speech delay
Age: 21 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: 29646068
CNV End: 30181301
CNV Size: 535234
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, GDPD3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, ALDOA, PPP4C, SEZ6L2, DOC2A
rosenfeld_10_ASD_discovery_cases-case16835
Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29550781
CNV End: 30059319
CNV Size: 508538
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3
rosenfeld_10_ASD_discovery_cases-case23517
Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29550781
CNV End: 30059319
CNV Size: 508538
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3
rosenfeld_10_ASD_discovery_cases-case23647
Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29550781
CNV End: 30059319
CNV Size: 508538
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3
rosenfeld_10_ASD_discovery_cases-case25383
Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29581255
CNV End: 30066187
CNV Size: 484932
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3
rosenfeld_10_ASD_discovery_cases-case28737
Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29550781
CNV End: 30059319
CNV Size: 508538
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3
rosenfeld_10_ASD_discovery_cases-case28905
Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29550781
CNV End: 30059319
CNV Size: 508538
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3
rosenfeld_10_ASD_discovery_cases-case29807
Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29564184
CNV End: 30066047
CNV Size: 501863
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3
roberts_13_ASD/DD/ID_discovery_cases-ASDcase10
Primary Diagnosis: ASD
Age: 26 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29595444
CNV End: 30320952
CNV Size: 725509
Validation Description: BACs aCGH or FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase16
Primary Diagnosis: Learning disability (developmental delay/intellectual disability)
Age: 9 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811477
CNV End: 29091074
CNV Size: 279598
Validation Description: BACs aCGH or FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP, RRN3P2
sanders_11_ASD_discovery_cases-11009.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 93; non-verbal IQ, 93; verbal IQ, 96
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11012.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sajan_13_ACC/CBLH/PMG_discovery_cases-case1060-0
Clinical Profile:
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
Cognitive Profile:
Developmental delay: yes. Intellectual disability: yes.
Sajan SA , et al. (2013)Primary Diagnosis: ACC
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32128300
CNV End: 32586373
CNV Size: 458074
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABHD17AP8, TP53TG3D, ACTR3BP3, ABCD1P3, PABPC1P13, HERC2P4
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-127
Clinical Profile:
Diagnosis of cerebellar hypoplasia (CBLH).
Cognitive Profile:
-
Sajan SA , et al. (2013)Primary Diagnosis: CBLH
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32457717
CNV End: 33371260
CNV Size: 913544
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, HERC2P5
sanders_11_ASD_discovery_cases-11025.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 4.6
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11033.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11041.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11048.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11049.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28636370
CNV End: 28802777
CNV Size: 166408
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: CDC37P1, MIR6862-2, NPIPB8, NPIPB9, EIF3C
sanders_11_ASD_discovery_cases-11049.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29355870
CNV End: 29612926
CNV Size: 257057
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, NPIPB12, SNX29P2
sanders_11_ASD_discovery_cases-11056.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 64; non-verbal IQ, 90; verbal IQ, 62
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29867894
CNV End: 29874545
CNV Size: 6652
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: CDIPTOSP, SEZ6L2
sanders_11_ASD_discovery_cases-11057.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11060.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11073.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11080.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 5.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11085.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11087.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11090.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11090.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29581036
CNV End: 30193981
CNV Size: 612946
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-11096.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11098.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28597166
CNV End: 28620264
CNV Size: 23099
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11120.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 128
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11129.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.7
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11135.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11142.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 44; non-verbal IQ, 53; verbal IQ, 31
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11145.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 76; non-verbal IQ, 79; verbal IQ 80
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11154.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 90; non-verbal IQ, 86; verbal IQ, 102
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11156.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28709499
CNV End: 28754850
CNV Size: 45352
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR6862-2, NPIPB9, EIF3C
sanders_11_ASD_discovery_cases-11158.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11161.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11176.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11187.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 112; non-verbal IQ, 115; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11212.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 16.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28592014
CNV End: 28609431
CNV Size: 17418
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SULT1A2, SULT1A1
sanders_11_ASD_discovery_cases-11214.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 93; non-verbal IQ, 100; verbal IQ, 83
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 15.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11229.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 31467390
CNV End: 31477712
CNV Size: 10323
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11235.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 100; non-verbal IQ, 97; verbal IQ, 105
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28597166
CNV End: 28609431
CNV Size: 12266
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11246.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 30579139
CNV End: 30583423
CNV Size: 4285
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11249.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11263.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 92
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11284.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 122; non-verbal IQ, 117; verbal IQ, 125
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 8.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11285.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 13; non-verbal IQ, 20; verbal IQ, 5
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11291.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 99
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11298.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 141; non-verbal IQ, 132; verbal IQ, 143
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11321.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 12; non-verbal IQ, 17; verbal IQ, 7
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 17.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11322.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11324.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 30; non-verbal IQ, 34; verbal IQ, 21
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11331.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11333.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28590936
CNV End: 28609431
CNV Size: 18496
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SULT1A2, SULT1A1, SGF29
sanders_11_ASD_discovery_cases-11345.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11347.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11356.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11359.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 5.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11368.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11371.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28590633
CNV End: 28609431
CNV Size: 18799
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: SULT1A2, SULT1A1, SGF29
sanders_11_ASD_discovery_cases-11391.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 113
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28590939
CNV End: 28609431
CNV Size: 18493
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SULT1A2, SULT1A1, SGF29
sanders_11_ASD_discovery_cases-11396.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11412.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 107; non-verbal IQ, 119; verbal IQ, 85
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28618832
CNV Size: 16189
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11433.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ, 96
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29636021
CNV End: 30204300
CNV Size: 568280
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-11435.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 17.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28597166
CNV End: 28609431
CNV Size: 12266
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11436.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11447.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11450.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 5.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11459.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 80; non-verbal IQ, 88; verbal IQ, 71
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11464.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11480.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 35; non-verbal IQ, 41; verbal IQ, 24
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11495.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11497.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11502.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 16.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11504.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 112; non-verbal IQ, 108; verbal IQ, 119
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28597166
CNV End: 28609431
CNV Size: 12266
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11540.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29584162
CNV End: 30228207
CNV Size: 644046
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-11546.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 99; non-verbal IQ, 123; verbal IQ, 100
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11555.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
Sanders SJ , et al. (2011)Primary Diagnosis: Aspergers
Age: 9.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 29584162
CNV End: 30320882
CNV Size: 736721
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
sanders_11_ASD_discovery_cases-11563.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11565.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 109
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11567.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28604387
CNV End: 28609431
CNV Size: 5045
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11581.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11598.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28602644
CNV End: 28616822
CNV Size: 14179
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11609.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603922
CNV End: 28609431
CNV Size: 5510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11629.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 17.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29636021
CNV End: 30251989
CNV Size: 615969
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-11634.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 55; non-verbal IQ, 56; verbal IQ, 63
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11673.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 92
Sanders SJ , et al. (2011)Primary Diagnosis: Aspergers
Age: 6.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28604387
CNV End: 28609431
CNV Size: 5045
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11680.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 29636021
CNV End: 30188484
CNV Size: 552464
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-11696.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11698.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11734.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11776.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 56; non-verbal IQ, 51; verbal IQ, 76
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603922
CNV End: 28609431
CNV Size: 5510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11788.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11800.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11809.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 91
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11818.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28718151
CNV End: 28733437
CNV Size: 15287
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR6862-2, EIF3C
sanders_11_ASD_discovery_cases-11835.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28607988
CNV Size: 4509
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11841.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28605344
CNV End: 28609431
CNV Size: 4088
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11846.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11939.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11941.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11962.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603922
CNV End: 28609431
CNV Size: 5510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11969.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 14.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11972.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603922
CNV End: 28609431
CNV Size: 5510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11979.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 7.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 30972891
CNV End: 30975823
CNV Size: 2933
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11979.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 7.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11996.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11999.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12003.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 4.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603922
CNV End: 28609431
CNV Size: 5510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12009.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12010.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 29581036
CNV End: 30212040
CNV Size: 631005
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-12037.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 88
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12050.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603922
CNV End: 28609431
CNV Size: 5510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12068.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 26
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28602644
CNV End: 28609431
CNV Size: 6788
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12083.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12091.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28709499
CNV End: 28750518
CNV Size: 41020
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR6862-2, EIF3C
sanders_11_ASD_discovery_cases-12100.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29581036
CNV End: 30188484
CNV Size: 607449
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-12119.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28597166
CNV End: 28609431
CNV Size: 12266
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12150.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12175.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12180.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 16.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12201.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12225.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29710543
CNV End: 29729616
CNV Size: 19074
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12252.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603922
CNV End: 28609431
CNV Size: 5510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12308.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 105
Sanders SJ , et al. (2011)Primary Diagnosis: Aspergers
Age: 14.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29581036
CNV End: 30204300
CNV Size: 623265
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-12313.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12329.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 82
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12345.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12350.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28605344
CNV End: 28607988
CNV Size: 2645
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12358.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12366.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12368.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 47; non-verbal IQ, 50; verbal IQ, 40
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12370.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 130; non-verbal IQ, 127; verbal IQ, 123
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12396.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12403.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12417.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 29655415
CNV End: 30320882
CNV Size: 665468
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
sanders_11_ASD_discovery_cases-12418.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603922
CNV End: 28609431
CNV Size: 5510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12435.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29584162
CNV End: 30188484
CNV Size: 604323
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-12438.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12441.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 18
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12448.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 116
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 31212228
CNV End: 31216587
CNV Size: 4360
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: PYDC1, TRIM72
sanders_11_ASD_discovery_cases-12451.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 75; non-verbal IQ, 77; verbal IQ, 77
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 9.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29581036
CNV End: 30188484
CNV Size: 607449
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-12465.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12521.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.2
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12534.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603922
CNV End: 28607988
CNV Size: 4067
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12539.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 30972891
CNV End: 30975823
CNV Size: 2933
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12568.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 14.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12579.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12581.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 30972891
CNV End: 30975823
CNV Size: 2933
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12602.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 106
Sanders SJ , et al. (2011)Primary Diagnosis: Aspergers
Age: 9.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12638.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12647.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29644543
CNV End: 30212040
CNV Size: 567498
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-12670.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 10.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12674.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 31526334
CNV End: 31561462
CNV Size: 35129
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: AHSP, VN1R64P, LINC02190, VN1R65P
sanders_11_ASD_discovery_cases-12701.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12723.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12736.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 101; non-verbal IQ, 111; verbal IQ, 86
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29636021
CNV End: 30251989
CNV Size: 615969
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A
sanders_11_ASD_discovery_cases-12757.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28590481
CNV End: 28609431
CNV Size: 18951
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: SULT1A2, SULT1A1, SGF29
sanders_11_ASD_discovery_cases-12786.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12809.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 5.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12832.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603922
CNV End: 28609431
CNV Size: 5510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12838.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12853.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603922
CNV End: 28609431
CNV Size: 5510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12878.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28597166
CNV End: 28609431
CNV Size: 12266
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12892.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 6.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28597166
CNV End: 28609431
CNV Size: 12266
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12894.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12899.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 92; non-verbal IQ, 96; verbal IQ, 87
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 12
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12961.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603922
CNV End: 28609431
CNV Size: 5510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12962.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13006.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 56; non-verbal IQ, 56; verbal IQ, 57
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13019.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13038.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13041.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13063.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13067.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13072.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13095.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13171.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 30579139
CNV End: 30583423
CNV Size: 4285
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13171.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13183.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28597166
CNV End: 28609431
CNV Size: 12266
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13222.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 17.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13226.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 8.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28603480
CNV End: 28609431
CNV Size: 5952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
schaefer_10_ASD_discovery_cases-case14
Clinical Profile:
Simple (non-syndromic) autism. No dysmorphisms.
Cognitive Profile:
-
Schaefer GB , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
sansovic_17_DD/ID/ASD_discovery_cases-case78
Clinical Profile:
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
Cognitive Profile:
-
Sansovi I , et al. (2017)Primary Diagnosis: Developmental delay/intellectual disability
Age: 15 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28832452
CNV End: 29019738
CNV Size: 187287
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
sansovic_17_DD/ID/ASD_discovery_cases-case80
Clinical Profile:
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
Cognitive Profile:
-
Sansovi I , et al. (2017)Primary Diagnosis: Developmental delay/intellectual disability
Age: 10 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29662633
CNV End: 30179247
CNV Size: 516615
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
sebat_07_ASD_discovery_cases-CG2061
Primary Diagnosis: Asperger's
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29578715
CNV End: 30081289
CNV Size: 502574
Validation Description: 390K ROMA or Agilent 244K aCGH, FISH, microsatellite
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: Unknown
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831
shen_10_ASD_discovery_cases-ASD-09-065
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 28813473
CNV End: 29033455
CNV Size: 219983
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, ATXN2L, NFATC2IP
shen_10_ASD_discovery_cases-ASD-09-066
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641678
CNV End: 30188030
CNV Size: 546353
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
shen_10_ASD_discovery_cases-ASD-09-067
Primary Diagnosis: PDD-NOS
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641728
CNV End: 30188030
CNV Size: 546303
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
shen_10_ASD_discovery_cases-ASD-09-068
Primary Diagnosis: PDD-NOS
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641678
CNV End: 30187279
CNV Size: 545602
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
shen_10_ASD_discovery_cases-ASD-09-069
Primary Diagnosis: PDD-NOS
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641678
CNV End: 30187279
CNV Size: 545602
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
shen_10_ASD_discovery_cases-ASD-09-070
Primary Diagnosis: PDD-NOS
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641678
CNV End: 30321260
CNV Size: 679583
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
shen_10b_ASD_discovery_cases-caseII:5
Clinical Profile:
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
Cognitive Profile:
IQ not tested; significant childhood learning disability
Shen Y , et al. (2011)Primary Diagnosis: ASD
Age: 41 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29500284
CNV End: 30106101
CNV Size: 605817
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: Unknown
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A
shen_10b_ASD_discovery_cases-caseIII:1
Clinical Profile:
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Cognitive Profile:
Mental retardation. WISC IQ score of 46.
Shen Y , et al. (2011)Primary Diagnosis: ASD
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: Paternal
Family Profile: Simplex (ASD), Multiplex (language delay)
CNV Start: 29500284
CNV End: 30106101
CNV Size: 605817
Validation Description: -
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Simplex (ASD), Multiplex (language delay)
Genome Build: Unknown
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A
shin_15_ASD/DD/ID_discovery_cases-case14
Clinical Profile:
Intellectual disability, full cheeks, bulbous nose, low set ears, narrow forehead
Cognitive Profile:
Intellectual disability
Shin S , et al. (2015)Primary Diagnosis: Intellectual disability
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32513443
CNV End: 34061205
CNV Size: 1547763
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, BMS1P8, ARHGAP23P1, HERC2P5
shin_15_ASD/DD/ID_discovery_cases-case27
Clinical Profile:
Intellectual disability
Cognitive Profile:
Intellectual disability
Shin S , et al. (2015)Primary Diagnosis: Intellectual disability
Age: 7 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31979839
CNV End: 34179283
CNV Size: 2199445
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV1OR16-1, IGHV1OR16-3, IGHV3OR16-9, ABHD17AP8, TP53TG3D, ACTR3BP3, ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, DUX4L45, PCMTD1P2, DUX4L46, DUX4L47, LINC00273, RNA5-8SP2, PABPC1P13, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, BMS1P8, ARHGAP23P1, HERC2P4, HERC2P5
schmidt_24_ASD/DD/ID_discovery_cases-case1154
Clinical Profile:
Recurrent pyelonephritis (HP:0012787), hypotonia (HP:0001252).
Cognitive Profile:
-
Axel Schmidt et al. (2024)Primary Diagnosis: Hypotonia
Age: Child
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29650414
CNV End: 32449839
CNV Size: 2799426
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: ALDOA, SEPTIN1, COX6A2, CTF1, SEZ6L2, IGHV1OR16-3, IGHV1OR16-1, IGHV3OR16-9, MYLPF, AHSP, ZNF771, PYCARD, FBXL19, PRR14, ZNF668, ARMC5, GDPD3, RUSF1, PAGR1, DCTPP1, VKORC1, FBRS, ZNF747, ZNF768, YPEL3, KAT8, HSD3B7, TLCD3B, STX1B, ZNF764, ORAI3, PRRT2, TMEM219, ZNF689, C16orf92, PRSS36, ZNF688, ZNF785, ZNF48, ITGAL, FUS, ITGAM, ITGAD, ITGAX, KCTD13, ASPHD1, C16orf54, ZNF843, FBXL19-AS1, PYDC1, INO80E, VN1R3, PRSS53, YBX3P1, CDIPTOSP, TRIM72, SMG1P5, NPIPB13, SLX1A, ABHD17AP8, PABPC1P13, ACTR3BP3, SNORA30, ZG16, BOLA2B, VN1R64P, TP53TG3D, RBM22P13, VN1R66P, VN1R65P, KIF22, MAZ, CLUHP3, RNU7-61P, VN1R67P, RBM22P12, CTF2P, HERC2P4, MIR762, SLX1A-SULT1A3, MIR4518, MIR4519, TMEM265, PYCARD-AS1, PPP4C, PRSS8, PHKG2, MAPK3, CD2BP2-DT, MIR762HG, YPEL3-DT, FRG2KP, LINC02190, NDUFA3P6, STX4, SULT1A3, SPN, TBX6, SLC5A2, TGFB1I1, RNU6-416P, RN7SKP127, RNU6-1043P, CORO1A-AS1, KCTD13-DT, SNORA80C, HIRIP3, DOC2A, BCL7C, ZNF646, MVP, RNF40, TAOK2, SETD1A, BCKDK, CORO1A, SRCAP, CD2BP2, CDIPT, ZNF267, TBC1D10B, ZNF629, QPRT, SEPHS2
stobbe_13_ASD_discovery_cases-case36
Clinical Profile:
Narrow nasal bridge, thin lips, retrognathia, pes planus, single transverse palmar crease. Family history: father with schizophrenia, bipolar disorder, and ADHD. Karyotype and Fragile X testing: not performed.
Cognitive Profile:
-
Stobbe G , et al. (2013)Primary Diagnosis: Schizoid personality disorder
Age: 20 yrs.
Gender: M
Primary Disorder Inheritence: Possibly paternal
Family Profile: Multi-generational
CNV Start: 29646068
CNV End: 30181301
CNV Size: 535234
Validation Description: -
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
soueid_16_ASD_discovery_cases-caseBAK43
Clinical Profile:
Case fulfilled DSM-V criteria for autism; no other information available
Cognitive Profile:
-
Soueid J , et al. (2016)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: N/A
CNV Start: 35215223
CNV End: 35521445
CNV Size: 306223
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: N/A
Genome Build: GRCh38
Gene Content: RARRES2P5, FGFR3P5, FRG2JP, RARRES2P6, AGGF1P8, FRG2HP, RARRES2P9, AGGF1P9, C2orf69P4, FRG2GP, RARRES2P7, AGGF1P5, C2orf69P3, ZNF971P, FRG2DP, RARRES2P10, AGGF1P6, C2orf69P2, TP53TG3HP, FRG2IP, LINC01566, AGGF1P4
soueid_16_ASD_discovery_cases-caseLAS17
Clinical Profile:
Case fulfilled DSM-V criteria for autism; no other information available
Cognitive Profile:
-
Soueid J , et al. (2016)Primary Diagnosis: Autism
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29384680
CNV End: 30179355
CNV Size: 794676
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
soueid_16_DD/ID_discovery_cases-case5
Primary Diagnosis: Developmental delay/intellectual disability
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 35215223
CNV End: 35521445
CNV Size: 306223
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RARRES2P5, FGFR3P5, FRG2JP, RARRES2P6, AGGF1P8, FRG2HP, RARRES2P9, AGGF1P9, C2orf69P4, FRG2GP, RARRES2P7, AGGF1P5, C2orf69P3, ZNF971P, FRG2DP, RARRES2P10, AGGF1P6, C2orf69P2, TP53TG3HP, FRG2IP, LINC01566, AGGF1P4
tabet_12_ASD_discovery_cases-patient1
Clinical Profile:
Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
Cognitive Profile:
WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
Tabet AC , et al. (2012)Primary Diagnosis: Autism
Age: 21 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 28482632
CNV End: 29330233
CNV Size: 847602
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: APOBR, NUPR1, SULT1A2, CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, CLN3, IL27, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, SGF29, EIF3C, ATXN2L, NFATC2IP, RRN3P2, SNX29P2
tiwari_12_EP_discovery_cases-patient2
Clinical Profile:
Age of onset of seizures: 1 months. EEG: multifocal spike and wave activity (at 2 years of age). Brain imaging: normal MRI/MRS; focal cortical hypometabolism on PET. Clinical characteristics and comorbidities: developmental delay, flattened nose and upturned nostrils, 2 hypopigmented spots..
Cognitive Profile:
Developmental delay
Tiwari VN , et al. (2012)Primary Diagnosis: Epilepsy
Age: 2 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31909325
CNV End: 32504690
CNV Size: 595365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: HERC2P4, LOC729264, LOC390705
tammimies_15_ASD_discovery_cases-case3-0133-000
Clinical Profile:
Height 5th %ile, weight <5th %ile, decreased upper segment/lower segment (0.875) and smooth philtrum at age of 13 years.
Cognitive Profile:
-
Tammimies K , et al. (2015)Primary Diagnosis: ASD
Age: 13 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641478
CNV End: 30188186
CNV Size: 546709
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
tammimies_15_ASD_discovery_cases-case3-0269-000
Clinical Profile:
Umbilical hernia. Dysmorphic features: hypertelorism, hypoplastic midface, anteverted nares, smooth philtrum, wide mouth, posteriorly rotated ears, 5th finger clinodactyly.
Cognitive Profile:
Not testable for IQ measures
Tammimies K , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29555975
CNV End: 30309999
CNV Size: 754025
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
tropeano_16_ASD_discovery_cases-MAAS25
Clinical Profile:
Case diagnosed with autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R.
Cognitive Profile:
-
Tropeano M , et al. (2016)Primary Diagnosis: ASD
Age: 20-29 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29662633
CNV End: 30187279
CNV Size: 524647
Validation Description: MLPA or aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
tuncay_22_ASD_discovery_cases-caseMC-16-3
Clinical Profile:
Diagnosis of ASD at 0.83 years. Developmental milestones: developmental delay. Additional medical history: gastrointestinal problems. Family history: born to unaffected non-consanguineous parents of Hispanic and European ancestry.
Cognitive Profile:
Intellectual disability, learning disabilities
Tuncay IO et al. (2022)Primary Diagnosis: ASD, developmental delay, and intellectual disability
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29534229
CNV End: 30189006
CNV Size: 654778
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, SMG1P2, ZG16, KIF22, MAZ, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
tuncay_22_ASD_discovery_cases-caseMC-16-3
Clinical Profile:
Diagnosis of ASD at 0.83 years. Developmental milestones: developmental delay. Additional medical history: gastrointestinal problems. Family history: born to unaffected non-consanguineous parents of Hispanic and European ancestry.
Cognitive Profile:
Intellectual disability, learning disabilities
Tuncay IO et al. (2022)Primary Diagnosis: ASD, developmental delay, and intellectual disability
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28709653
CNV End: 29431885
CNV Size: 722233
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ATP2A1, CD19, LAT, RABEP2, SPNS1, NFATC2IP, SNX29P2, RRN3P2, NPIPB11, NPIPB10P, ATP2A1-AS1, SMG1P6, MIR4721, NPIPB9, MIR4517, MIR6862-2, TUFM, EIF3C, ATXN2L, SH2B1
tuncay_22_ASD_discovery_cases-caseMC-16-3
Clinical Profile:
Diagnosis of ASD at 0.83 years. Developmental milestones: developmental delay. Additional medical history: gastrointestinal problems. Family history: born to unaffected non-consanguineous parents of Hispanic and European ancestry.
Cognitive Profile:
Intellectual disability, learning disabilities
Tuncay IO et al. (2022)Primary Diagnosis: ASD, developmental delay, and intellectual disability
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 30290187
CNV End: 31088015
CNV Size: 797829
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SEPTIN1, CTF1, MYLPF, ZNF771, FBXL19, PRR14, ZNF668, DCTPP1, FBRS, ZNF747, ZNF768, HSD3B7, STX1B, ZNF764, ORAI3, ZNF689, ZNF688, ZNF785, ZNF48, ITGAL, FBXL19-AS1, PRSS53, SMG1P5, SNORA30, RNU7-61P, CTF2P, MIR762, MIR4518, MIR4519, TMEM265, PHKG2, CD2BP2-DT, MIR762HG, STX4, RNU6-416P, RNU6-1043P, SNORA80C, BCL7C, ZNF646, RNF40, SETD1A, SRCAP, CD2BP2, TBC1D10B, ZNF629, SEPHS2
vaags_11_ASD_discovery_cases-probandF2-003
Clinical Profile:
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Cognitive Profile:
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
Vaags AK , et al. (2012)Primary Diagnosis: Autism
Age: 3 yrs. 5 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 32460104
CNV End: 33849439
CNV Size: 1389336
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, BMS1P8, HERC2P5
van_den_bossche_12_BPD_discovery_cases-Bas1525
Primary Diagnosis: BPD
Age: 53
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29666830
CNV End: 30124527
CNV Size: 457698
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
van_den_bossche_12_BPD_discovery_cases-Zas8689
Primary Diagnosis: BPD and ASD
Age: 50
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29666830
CNV End: 30124527
CNV Size: 457698
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
van_den_bossche_12_SCZ_discovery_cases-Sc3007
Primary Diagnosis: SCZ
Age: 50
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29769813
CNV End: 30389771
CNV Size: 619959
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, TBC1D10B, MYLPF, ZNF48, SEPT1, SEZ6L2, DOC2A, SMG1P5
van_den_bossche_12_SCZ_discovery_cases-Zas9029
Primary Diagnosis: SCZ
Age: 41
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29666830
CNV End: 30124527
CNV Size: 457698
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
verberne_22_ASD/DD/ID_discovery_cases-case375
Clinical Profile:
Mayer-Rokitansky-Kuster-Hauser syndrome, obesity
Cognitive Profile:
-
Verberne EA et al. (2022)Primary Diagnosis: -
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28814283
CNV End: 29032129
CNV Size: 217847
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ATP2A1, CD19, LAT, RABEP2, SPNS1, NFATC2IP, ATP2A1-AS1, MIR4721, MIR4517, TUFM, ATXN2L, SH2B1
viggiano_24_ASD_discovery_cases-case118.4
Clinical Profile:
Case diagnosed with ASD according to DSM-5 criteria and assessed using ADOS-2 and CARS-2. Family history: deletion not present in an ASD-affected brother.
Cognitive Profile:
-
Marta Viggiano et al. (2024)Primary Diagnosis: ASD
Age: -
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29584162
CNV End: 30188392
CNV Size: 604231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: CA5AP1, ALDOA, SEZ6L2, GDPD3, PAGR1, YPEL3, SLC7A5P1, TLCD3B, PRRT2, TMEM219, C16orf92, KCTD13, ASPHD1, C16orf54, INO80E, CDIPTOSP, SMG1P2, ZG16, KIF22, MAZ, MIR3680-2, PPP4C, MAPK3, YPEL3-DT, SPN, TBX6, RN7SKP127, CORO1A-AS1, KCTD13-DT, HIRIP3, DOC2A, MVP, TAOK2, CORO1A, CDIPT, QPRT
weiss_08_ASD_discovery_cases-AU002903
Clinical Profile:
ADI-R (tested at 13.07 yrs): social total 28, verbal communication total 16, behavior total 6, development total 4; ADOS (tested at 15.46 yrs): module 4, communication total 3, social total 4, play total 1, behavior total 2
Cognitive Profile:
Raven nonverbal IQ 94 (tested at 15 yrs); Vineland score 6 yrs 8 mo (tested at 16.2 yrs); Peabody test est. age >22 yrs (age at test: 15)
Weiss LA , et al. (2008)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_discovery_cases-AU002905
Clinical Profile:
ADI-R (tested at 9.84 yrs): social total 27, verbal communication total 17, behavior total 8, development total 3; ADOS (tested at 11.91 yrs): module 3, communication total 6, social total 12, play total 2, behavior total 0
Cognitive Profile:
Raven nonverbal IQ 90 (tested at 11 yrs); Vineland score 9 yrs 5 mo (tested at 12.68 yrs); Peabody test est. age 10 yrs 9 mos (age at test: 11 yrs)
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_discovery_cases-AU011004
Clinical Profile:
ADI-R (tested at 7.95 yrs): social total 26, verbal communication total 15, behavior total 7, development total 5; ADOS (tested at 11.09 yrs): module 3, communication total 3, social total 8, play total 0, behavior total 3
Cognitive Profile:
Raven nonverbal IQ 110 (tested at 11 yrs)
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Mulitplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Mulitplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_discovery_cases-AU0154302
Clinical Profile:
ADI-R (testeed at 14.73 yrs): social total 28, non-verbal communication total 12, behavior total 4, development total 5; ADOS (tested at 14.73 yrs): module 1, communication total 4, social total 9, play total 2, behavior total 4
Cognitive Profile:
Raven nonverbal IQ 70 (tested at 14 yrs)
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_discovery_cases-AU0154303
Clinical Profile:
ADI-R (tested at 12.85 yrs): social total 30, non-verbal communication total 14, behavior total 4, development total 5; ADOS (tested at 12.92 yrs): module 1, communication total 5, social total 12, play total 4, behavior total 0
Cognitive Profile:
Raven nonverbal IQ N/A
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_discovery_cases-AU029803
Clinical Profile:
ADI-R (tested at 4.79 yrs): social total 16, verbal communication total 14, behavior total 3, development total 3
Cognitive Profile:
Raven nonverbal IQ N/A
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Mulitplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Mulitplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_discovery_cases-AU032704
Clinical Profile:
ADI-R (tested at 9.99 yrs): social total 28, verbal communication total 18, behavior total 4, development total 5; ADOS (tested at 14.82yrs): module 3, communication total 4, social total 7, play total 0, behavior total 1
Cognitive Profile:
Raven nonverbal IQ 75 (tested at 14 yrs); Peabody test est. age 14 yrs 9 mos (tested at 14 yrs)
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_discovery_cases-AU032705
Clinical Profile:
ADI-R (tested at 8.36 yrs): social total 28, verbal communication total 23, behavior total 8, development total 5; ADOS (tested at 13.19yrs): module 2, communication total 5, social total 8, play total 1, behavior total 5
Cognitive Profile:
Raven nonverbal IQ 50 (tested at 13 yrs); Peabody test est. age 7 yrs 2 mos (tested at 13 yrs)
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_discovery_cases-AU032706
Clinical Profile:
ADI-R (tested at 6.86 yrs): social total 27, verbal communication total 18, behavior total 4, development total 5; ADOS (tested at 11.68 yrs): module 3, communication total 3, social total 7, play total 0, behavior total 0
Cognitive Profile:
Raven nonverbal IQ 107 (tested at 11 yrs); Peabody test est. age 14 yrs 9 mos (tested at 11 yrs)
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_discovery_cases-AU032707
Clinical Profile:
ADI-R (tested at 10.55 yrs): social total 26, verbal communication total 24, behavior total 8, development total 5; ADOS (tested at 10.55 yrs): module 3, communication total 6, social total 13, play total 1, behavior total 1
Cognitive Profile:
Raven nonverbal IQ 107 (tested at 10 yrs); Pebaody test est. age 9 yrs 3 mos (tested at 10 yrs)
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_discovery_cases-AU041905
Clinical Profile:
ADI-R (tested at 5.92 yrs): social total 15, verbal communication total 15, behavior total 6, development total 5; ADOS (tested at 7.96 yrs): module 3, communication total 5, social total 10, play total 1, behavior total 4
Cognitive Profile:
Raven nonverbal IQ 108 (tested at 7 yrs); Peabody test est. age 5 yrs 6 mos (tested at 7 yrs)
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Mulitplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Mulitplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_discovery_cases-AU0938301
Clinical Profile:
ADI-R (tested at 9.32 yrs): social total 18, verbal communication total 12, behavior total 6, development total 5; ADOS (tested at 9.32 yrs): module 3, communication total 3, social total 7, play total 1, behavior total 3
Cognitive Profile:
Raven nonverbal IQ 80 (tested at 9 yrs); Peabody test est. age 6 yrs 5 mos (tested at 9 yrs)
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Mulitplex
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Mulitplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_replication_cases-deCODEAut1
Clinical Profile:
Autism, speech and motor delay, poor eye contact, ADHD
Cognitive Profile:
Mild MR; WISC-III: VIQ 65, PIQ 61, FS 61 (tested at 17.75 yrs)
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: 22
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_replication_cases-deCODEAut2
Clinical Profile:
Atypical autism, speech delay, poor eye contact, self stimulating behavior, ADHD, seizures
Cognitive Profile:
WISC III (tested at 7.1 years): VIQ 75, PIQ 75, FS 73
Weiss LA , et al. (2008)Primary Diagnosis: Autism
Age: 12
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_ASD_replication_cases-deCODEAut3
Clinical Profile:
Asperger's, epilepsy, history of seizures
Cognitive Profile:
Unspecified MR; WISC-III N/A
Weiss LA , et al. (2008)Primary Diagnosis: Asperger's
Age: 37
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient1
Clinical Profile:
Speech and motor delay, poor eye contact, tactile aversion, self-stimulating behavior
Cognitive Profile:
NA
Weiss LA , et al. (2008)Primary Diagnosis: ASD
Age: 6 yr 6 mo
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient2
Primary Diagnosis: ASD
Age: 2 yr 9 mo
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient3
Primary Diagnosis: ASD
Age: 17 months
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient4
Clinical Profile:
Speech and motor delay, poor eye contact
Cognitive Profile:
NA
Weiss LA , et al. (2008)Primary Diagnosis: ASD
Age: 9 yr 2 mo
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient5
Clinical Profile:
Speech and motor delay, poor eye contact
Cognitive Profile:
NA
Weiss LA , et al. (2008)Primary Diagnosis: ASD
Age: 9 yr 2 mo
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient6
Clinical Profile:
Motor delay, not crawling or walking yet, agenesis of corpus callosum
Cognitive Profile:
NA
Weiss LA , et al. (2008)Primary Diagnosis: ASD
Age: 14 months
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient7
Clinical Profile:
Mild speech delay, motor delay, mild spasticity, 5th finger clinodactyly
Cognitive Profile:
NA
Weiss LA , et al. (2008)Primary Diagnosis: ASD
Age: 3 yr 3 mo
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient8
Primary Diagnosis: ASD
Age: 2 yr 6 mo
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
weiss_08_DD/MR/ASD_replication_cases-CHBpatient9
Clinical Profile:
Speech delay, seizures beginning at 6 months, mental retardation
Cognitive Profile:
Mental retardation
Weiss LA , et al. (2008)Primary Diagnosis: ASD
Age: 9 yr 9 mo
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
wenger_16_ASD_discovery_cases-case30
Clinical Profile:
Prior clinical diagnosis of genetic syndrome: n/a
Cognitive Profile:
-
Wenger TL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29636021
CNV End: 30166486
CNV Size: 530466
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
xu_16_ASD/DD/ID_discovery_cases-case10
Clinical Profile:
Primary diagnosis of developmental delay based on DQ scores.
Cognitive Profile:
-
Xu Q , et al. (2016)Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29413879
CNV End: 30073987
CNV Size: 660109
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, NPIPB12, CA5AP1, SEZ6L2, DOC2A
wolfe_16_ID_discovery_cases-DECIPHER327119
Clinical Profile:
Psychiatric history: autistic spectrum disorder (ASD), depression, obsessive compulsive disorder (OCD). Mini PAS-ADD evaluation: depression, obsessive compulsive disorder (OCD). BPI-S evaluation: self-injurious, aggressive/destructive, or stereotyped behaviors occur less than weekly. Medical history: renal problems during childhood, menorrhagia, severe anemia, onychogryphosis. Dysmorphic features: no gross dysmorphology reported. Growth parameters: height 161.8 cm, head circumference 54.2 cm. Ethnicity: white (other).
Cognitive Profile:
Mild intellectual disability
Wolfe K , et al. (2016)Primary Diagnosis: Intellectual disability, ASD, and OCD
Age: 27 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29735003
CNV End: 30082147
CNV Size: 347145
Validation Description: qPCR, FISH, or QF-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, SEZ6L2, DOC2A
wolfe_16_ID_discovery_cases-DECIPHER327121
Clinical Profile:
Psychiatric history: psychotic depression. Mini PAS-ADD evaluation: psychosis. BPI-S evaluation: self-injurious, aggressive/destructive, or stereotyped behaviors occur less than weekly. Medical history: childhood jaundice, childhood epilepsy, type II diabetes, constipation, glaucoma. Dysmorphic features: no gross dysmorphology reported. Growth parameters: height 172.5 cm, head circumference 53.2 cm. Ethnicity: white (British).
Cognitive Profile:
Mild intellectual disability
Wolfe K , et al. (2016)Primary Diagnosis: Intellectual disability
Age: 62 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29735003
CNV End: 30082147
CNV Size: 347145
Validation Description: qPCR, FISH, or QF-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, SEZ6L2, DOC2A
wolfe_16_ID_discovery_cases-DECIPHER327122
Clinical Profile:
Psychiatric history: schizoaffective disorder. Mini PAS-ADD evaluation: depression, anxiety disorder, psychosis. BPI-S evaluation: self-injurious, aggressive/destructive, or stereotyped behaviors occur less than weekly. Medical history: myopia. Dysmorphic features: no gross dysmorphology reported. Growth parameters: height 173.4 cm, head circumference 57.9 cm. Ethnicity: white (British).
Cognitive Profile:
Mild intellectual disability
Wolfe K , et al. (2016)Primary Diagnosis: Intellectual disability and schizoaffective disorder
Age: 33 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29432663
CNV End: 30181241
CNV Size: 748579
Validation Description: qPCR, FISH, or QF-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
wolfe_16_ID_discovery_cases-DECIPHER327133
Clinical Profile:
Psychiatric history: autistic spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), on forensic in-patient section. Mini PAS-ADD evaluation: none met. BPI-S evaluation: at least weekly aggressive/destructive behavior. Medical history: insulin-dependent diabetes, hypercholesterolemia. Dysmorphic features: N/A. Growth parameters: height 188 cm, head circumference 59 cm. Ethnicity: white (British).
Cognitive Profile:
Mild intellectual disability
Wolfe K , et al. (2016)Primary Diagnosis: Intellectual disability, ASD, and ADHD
Age: 21 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29735003
CNV End: 30181241
CNV Size: 446239
Validation Description: qPCR, FISH, or QF-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
wolfe_16_ID_discovery_cases-DECIPHER327135
Clinical Profile:
Psychiatric history: none recorded. Mini PAS-ADD evaluation: depression, anxiety disorder, hypomania, obsessive compulsive disorder (OCD), psychosis. BPI-S evaluation: at least weekly stereotyped behavior. Medical history: seizures during infancy, acne. Dysmorphic features: tapering fingers. Growth parameters: height 162 cm, head circumference 59 cm. Ethnicity: white (British).
Cognitive Profile:
Mild intellectual disability
Wolfe K , et al. (2016)Primary Diagnosis: Intellectual disability and OCD
Age: 19 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29735003
CNV End: 30181241
CNV Size: 446239
Validation Description: qPCR, FISH, or QF-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
yin_16_ASD_discovery_cases-case497
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29580436
CNV End: 30180574
CNV Size: 600139
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
yin_16_ASD_discovery_cases-case498
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31549193
CNV End: 31645257
CNV Size: 96065
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02190, VN1R65P, FRG2KP, YBX3P1, ZNF720P1
yin_16_ASD_discovery_cases-case499
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 34061880
CNV End: 34208804
CNV Size: 146925
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DUX4L45, PCMTD1P2, DUX4L46, DUX4L47, LINC00273, RNA5-8SP2
yin_16_ASD_discovery_cases-case500
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 34061880
CNV End: 34208804
CNV Size: 146925
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DUX4L45, PCMTD1P2, DUX4L46, DUX4L47, LINC00273, RNA5-8SP2
yin_16_ASD_discovery_cases-case501
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 34962968
CNV End: 35268851
CNV Size: 305884
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NAMPTP3, VN1R68P, VN1R69P, UBE2MP1, SLC25A1P4, TP53TG3GP, RARRES2P5, FGFR3P5, FRG2JP, RARRES2P6, AGGF1P8, LINC02184, CCNYL3, CLUHP11, VPS35P1
yingjun_17_ASD_discovery_cases-case4876
Clinical Profile:
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
Cognitive Profile:
-
Xie Y , et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28807707
CNV End: 29039870
CNV Size: 232164
Validation Description: N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
yingjun_17_ASD_discovery_cases-case7687
Clinical Profile:
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
Cognitive Profile:
-
Xie Y , et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29555974
CNV End: 30133562
CNV Size: 577589
Validation Description: N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
yap_21_ASD_discovery_cases-case3305177
Clinical Profile:
History of seizures, sleep disturbances, head circumference within 2-50th %ile.
Cognitive Profile:
WISC 1st %ile (tested outside of AAB interviews)
Yap CX et al. (2021)Primary Diagnosis: ASD, intellectual disability, and epilepsy/seizures
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28821243
CNV End: 29033424
CNV Size: 212182
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ATP2A1, CD19, LAT, RABEP2, SPNS1, NFATC2IP, ATP2A1-AS1, MIR4721, MIR4517, TUFM, ATXN2L, SH2B1
yuen_17_ASD_discovery_cases-case1-0019-004
Clinical Profile:
Case cohort: The Autism Simplex Collection . Clinical description: Obese; overeater; sleep problems - anxiety causes him to wake
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29572679
CNV End: 30188679
CNV Size: 616001
Validation Description: Illumina1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
yuen_17_ASD_discovery_cases-case2-0088-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29566679
CNV End: 30188679
CNV Size: 622001
Validation Description: Illumina1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
yuen_17_ASD_discovery_cases-caseAU002903
Clinical Profile:
Case cohort: AGRE. Clinical description: eczema; delayed teeth; frequent otitus media requiring tubes; severe asthma as an infant; allergies; OCD symptoms
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29436680
CNV End: 30295679
CNV Size: 859000
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5
yu_11_ASD_discovery_cases-patient10
Clinical Profile:
Diagnosis of severe ASD. Developmental milestones: language and motor delays. Birth weight: 1588 g. Neonatal adaption: poor weight gain, gastro-esophageal refulx, failure to thrive. Hypotonia. Eating behavior: picky eater; eats in large quantities. Growth parameters: height, 107.1 cm (50-75th %ile); weight, 18.4 kg (50-75th %ile); OFC, 50.2 cm (90th %ile); BMI, 16.0 (68th %ile; Z-score 0.48).
Cognitive Profile:
Mental retardation
Yu Y , et al. (2011)Primary Diagnosis: ASD
Age: 4 yrs. 8 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_ASD_discovery_cases-patient11
Clinical Profile:
Diagnosis of PDD-NOS. Developmental milestones: language delay. Birth weight: 3657 g. Neonatal adaption: early failure to thrive. Hypotonia. Eating behavior: normal. Growth parameters: height, 124.4 cm (90th %ile); weight, 34.8 kg (>97th %ile); OFC, NA; BMI, 22.5 (99th %ile; Z-score 2.26).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: PDD-NOS
Age: 6 yrs. 6 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_ASD_discovery_cases-patient16
Clinical Profile:
Diagnosis of PDD-NOS. Developmental milestones: language and motor delays. Birth weight: 4366 g. Neonatal adaption: colicky. Mild hypotonia. Eating behavior: good appetite. Growth parameters: height, 169.3 cm (97th %ile); weight, 68.5 kg (97th %ile); OFC, 57.6 cm (98th %ile); BMI, 23.9 (94th %ile; Z-score 1.52).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: PDD-NOS
Age: 12 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_ASD_discovery_cases-patient18
Clinical Profile:
Diagnosis of PDD-NOS. Developmental milestones: language and motor delays. Birth weight: 2722 g. Neonatal adaption: normal. Mild hypotonia. Eating behavior: good appetite. Growth parameters: height, 149 cm (<90th %ile); weight, 39 kg (75th %ile); OFC, 56.6 cm (98th %ile); BMI, 17.6 (57th %ile; Z-score 0.18).
Cognitive Profile:
Mental retardation
Yu Y , et al. (2011)Primary Diagnosis: PDD-NOS
Age: 10 yrs. 8 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_ASD_discovery_cases-patient2
Clinical Profile:
Developmental milestones: global developmental delay. Birth weight: 3400 g. Neonatal adaption: normal. Mild hypotonia. Eating behavior: avid appetite. Growth parameters: height, 160 cm (>95th %ile); weight, 87.5 kg (>97th %ile); OFC, 56 cm (>97th %ile); BMI, 34.3 (99th %ile, Z-score 2.54).
Cognitive Profile:
Very low IQ.
Yu Y , et al. (2011)Primary Diagnosis: ASD
Age: 10 yrs. 11 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_ASD_discovery_cases-patient20
Clinical Profile:
Diagnosis of mild ASD. Developmental milestones: mild language delay. Birth weight: unknown. Neonatal adaption: normal. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 155.8 cm (10-25th %ile); weight, 71.4 kg (90-95th %ile); OFC, NA; BMI, 29.4 (97th %ile; Z-score 1.85).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: ASD
Age: 14 yrs. 2 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_ASD_discovery_cases-patient22
Clinical Profile:
Diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 3941 g. Neonatal adaption: jaundice. Hypotonia. Eating behavior: good appetite. Growth parameters: height, 92 cm (90th %ile); weight, 16.5 kg (>97th %ile); OFC, 55 cm (>97th %ile); BMI, 19.5 (98th %ile; Z-score 2).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: ASD
Age: 2 yrs. 4 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_ASD_discovery_cases-patient5
Clinical Profile:
Diagnosis of ASD. Developmental milestones: motor delay; significant language delay. Birth weight: 4540 g. Neonatal adaption: normal. Hypotonia. Eating behavior: normal. Growth parameters: height, 108 cm (50-75th %ile); weight, 19 kg (70th %ile); OFC, 51 cm (50th %ile); BMI, 16.3 (74th %ile; Z-score 0.65).
Cognitive Profile:
Mental retardation
Yu Y , et al. (2011)Primary Diagnosis: ASD
Age: 5 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_ASD_discovery_cases-patient7
Clinical Profile:
Diagnosis of ASD. Developmental milestones: language delay. Birth weight: 3062 g. Neonatal adaption: feeding difficulty. Mild hypotonia. Eating behavior: picky eater with food aversions. Growth parameters: height, 154.5 cm (90th %ile); weight, 65.2 kg (98th %ile); OFC, 58 cm (91-98th %ile); BMI, 25.8 (97th %ile; Z-score 1.95).
Cognitive Profile:
Borderline IQ
Yu Y , et al. (2011)Primary Diagnosis: ASD
Age: 11 yrs. 4 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_ASD_discovery_cases-patient9
Clinical Profile:
Diagnosis of severe ASD. Developmental milestones: language and motor delays. Birth weight: 1814 g. Neonatal adaption: poor weight gain, gastro-esophageal refulx, failure to thrive. Hypotonia: none. Eating behavior: picky eater with poor eating habits. Growth parameters: height, 107.3 cm (50-75th %ile); weight, 19 kg (75-90th %ile); OFC, NA; BMI, 16.5 (79th %ile; Z-score 0.81).
Cognitive Profile:
Mental retardation
Yu Y , et al. (2011)Primary Diagnosis: ASD
Age: 4 yrs. 9 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient1
Clinical Profile:
No diagnosis of ASD. Developmental milestones: mild language delay; motor delay. Birth weight: 2490. Neonatal adaption: transient tachypnea of newborn, failure to thrive, poor weight gain. Hypotonia. Eating behavior: poor feeding skills. Growth parameters: height, 81.5 cm (10-25th %ile); weight, 10.15 kg (<5th %ile); OFC, 50 cm (90-95th %ile); BMI, 15.28 (14th %ile; Z-score -1.08).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 1 yr 10 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient12
Clinical Profile:
No diagnosis of ASD. Developmental milestones: language delay. Birth weight: 3175 g. Neonatal adaption: unknown. Hypotonia: unknown. Eating behavior: normal. Growth parameters: height, 148 cm (<3rd %ile); weight, 46.9 kg (25th %ile); OFC, 54.5 cm (90th %ile); BMI, 21.4 (64th %ile; Z-score 0.37.
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 14 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient13
Clinical Profile:
No diagnosis of ASD. Developmental milestones: motor delay. Birth weight: 2722 g. Neonatal adaption: jaundice, seizures. Hypotonia: unknown. Eating behavior: normal. Growth parameters: height, 176 cm (50th %ile); weight, 86 kg (89th %ile); OFC, 57 cm (>97th %ile); BMI, 27.9 (90th %ile; Z-score 1.28).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 19 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient14
Clinical Profile:
No diagnosis of ASD. Developmental milestones: normal. Birth weight: 2296 g. Neonatal adaption: unknown. Hypotonia: none. Eating behavior: unknown. Growth parameters: height, 96.7 cm (75th %ile); weight, 14.6 kg (50th %ile); OFC, 50.25 cm (75-90th %ile); BMI, 15.6 (56th %ile; Z-score 0.15).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: Other
Age: 3 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient15
Clinical Profile:
No diagnosis of ASD. Developmental milestones: normal. Birth weight: unknown. Neonatal adaption: unknown. Hypotonia: none. Eating behavior: normal. Growth parameters: height, 153.3 cm (10-25th %ile); weight, 59.9 kg (50-75th %ile); OFC, NA; BMI, 25.5 (90th %ile; Z-score 1.31).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: Other
Age: 15 yrs. 11 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient17
Clinical Profile:
Diagnosis of ASD: unknown. Developmental milestones: language & motor delay. Birth weight: 2778 g. Neonatal adaption: normal. Hypotonia. Eating behavior: unknown. Growth parameters: height, 126 cm (95th %ile); weight, 44.8 kg (>95th %ile); OFC, NA; BMI, 28.2 (>99th %ile; Z-score 2.99).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 6 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient19
Clinical Profile:
No diagnosis of ASD. Developmental milestones: language & motor delay. Birth weight: 4196 g. Neonatal adaption: gastro-esophageal reflux, poor feeding. Hypotonia. Eating behavior: feeding difficulty. Growth parameters: height, 85 cm (10-25th %ile); weight, 11 kg (25th %ile); OFC, 52.25 cm (99th %ile); BMI, 15.2 (18th %ile; Z-score -0.9).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 2 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient21
Clinical Profile:
No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 2155 g. Neonatal adaption: poor feeding. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 146 cm (>95th %ile); weight, 71 kg (>95th %ile); OFC, NA; BMI, 33.3 (96th %ile; Z-score 1.77).
Cognitive Profile:
Mental retardation (IQ 40)
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 21 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient23
Clinical Profile:
No diagnosis of ASD. Developmental milestones: language delay. Birth weight: 3005 g. Neonatal adaption: normal. Hypotonia: none. Eating behavior: picky eater. Growth parameters: height, 106.7 cm (50-75th %ile); weight, 18.6 kg (75th %ile); OFC, NA; BMI, 16.3 (75th %ile; Z-score 0.67).
Cognitive Profile:
Mental retardation
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 4 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient24
Clinical Profile:
No diagnosis of ASD. Developmental milestones: language delay. Birth weight: 2155 g. Neonatal adaption: unknown. Hypotonia. Eating behavior: unknown. Growth parameters: height, 105.5 cm (25-50th %ile); weight, 16.8 kg (20-50th %ile); OFC, NA; BMI, 15.1 (48th %ile; Z-score -0.05).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 5 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient25
Clinical Profile:
No diagnosis of ASD. Developmental milestones: motor delay. Birth weight: unknown. Neonatal adaption: poor feeding. Hypotonia. Eating behavior: unknown. Growth parameters: height, 138.1 cm (75th %ile); weight, 33.8 kg (75th %ile); OFC, 54.5 cm (90th %ile); BMI, 18 (72th %ile; Z-score 0.57).
Cognitive Profile:
Learning difficulty
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 7 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient26
Clinical Profile:
No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 2722 g. Neonatal adaption: excessive crying. Hypotonia: none. Eating behavior: unknown. Growth parameters: height, 129 cm (12th %ile); weight, 35 kg (77th %ile); OFC, 53 cm (50th %ile); BMI, 21 (94th %ile; Z-score 1.52).
Cognitive Profile:
Mental retardation (IQ 68)
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 9 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient27
Clinical Profile:
Diagnosis of ASD: unknown. Developmental milestones:. Unknown. Birth weight: unknown. Neonatal adaption: unknown. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 150.5 cm (10-25th %ile); weight, 54.2 kg (77th %ile); OFC, NA; BMI, 23.9 (89th %ile; Z-score 1.25).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: Other
Age: 13 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient28
Clinical Profile:
No diagnosis of ASD. Developmental milestones: unknown. Birth weight: 4082 g. Neonatal adaption: normal. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 88.2 cm (50-75th %ile); weight, 14 kg (77th %ile); OFC, 47.8 cm (90-97th %ile); BMI, 18 (89th %ile; Z-score 1.24).
Cognitive Profile:
-
Yu Y , et al. (2011)Primary Diagnosis: Other
Age: 2 yrs. 4 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient3
Clinical Profile:
No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 3370 g. Neonatal adaption: respiratory distress. Mild hypotonia. Eating behavior: avid appetite. Growth parameters: height, 151.6 cm (75-90th %ile); weight, 76.6 kg (>97th %ile); OFC, 54.5 cm (90th %ile); BMI, 33.3 (99th %ile; Z-score 2.5).
Cognitive Profile:
Severe mental retardation (IQ 52)
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 9 yrs. 10 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient4
Clinical Profile:
No diagnosis of ASD. Developmental milestones: language delay, mild motor delay. Birth weight: 3277 g. Neonatal adaption: failure to thrive, weight decline. Hypotonia. Eating behavior: food aversion. Growth parameters: height, 105.4 cm (54th %ile); weight, 18.1 kg (50th %ile); OFC, 54 cm (98th %ile); BMI, 16.3 (75th %ile; Z-score 0.67).
Cognitive Profile:
Mental retardation
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 4 yrs. 11 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient6
Clinical Profile:
No diagnosis of ASD. Developmental milestones: language delay, mild motor delay. Birth weight: 3192 g. Neonatal adaption: failure to thrive. Hypotonia. Eating behavior: unknown. Growth parameters: height, 168.4 cm (10-25th %ile); weight, 139.2 kg (>98th %ile); OFC, 60 cm (98th %ile); BMI, 49.09 (>99th %ile; Z-score 3.13).
Cognitive Profile:
Mental retardation (IQ 69)
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 17 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yu_11_nonASD_discovery_cases-patient8
Clinical Profile:
No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: unknown. Neonatal adaption: failure to thrive, gastro-esphageal reflux. Mild hypotonia. Eating behavior: food obsession, ravenous eating. Growth parameters: height, 87.6 cm (5-10th %ile); weight, 11.09 (3-5th %ile); OFC, 47.5 cm (10-25th %ile); BMI, 15.5 (5th %ile; Z-score -1.61).
Cognitive Profile:
Mental retardation
Yu Y , et al. (2011)Primary Diagnosis: Developmental delay
Age: 2 yrs. 9 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29488679
CNV End: 30088679
CNV Size: 600001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, NPIPB12, CA5AP1, SEZ6L2, DOC2A
yuen_17_ASD_discovery_cases-caseAU3160302
Clinical Profile:
Case cohort: AGRE. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29514180
CNV End: 30285179
CNV Size: 771000
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
Show all Control Details
Show all Cohort Details
No control populations reported.
Show all Control Details
Show all Cohort Details
engchuan_15_ASD_discovery_controls-control110036021749_
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28802777
CNV End: 29072182
CNV Size: 269406
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
engchuan_15_ASD_discovery_controls-controlB234785_1007841252
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32012659
CNV End: 33966841
CNV Size: 1954183
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV1OR16-1, IGHV1OR16-3, IGHV3OR16-9, ABHD17AP8, TP53TG3D, ACTR3BP3, ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, PABPC1P13, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, BMS1P8, ARHGAP23P1, HERC2P4, HERC2P5
engchuan_15_ASD_discovery_controls-controlB338435_1007854144
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31990503
CNV End: 34006099
CNV Size: 2015597
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV1OR16-1, IGHV1OR16-3, IGHV3OR16-9, ABHD17AP8, TP53TG3D, ACTR3BP3, ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, PABPC1P13, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, BMS1P8, ARHGAP23P1, HERC2P4, HERC2P5
engchuan_15_ASD_discovery_controls-controlB566023_1007854692
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32153014
CNV End: 33640395
CNV Size: 1487382
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABHD17AP8, TP53TG3D, ACTR3BP3, ABCD1P3, TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, TP53TG3B, TP53TG3F, PABPC1P13, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, HERC2P4, HERC2P5
engchuan_15_ASD_discovery_controls-controlB609347_1007853750
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32491547
CNV End: 33327483
CNV Size: 835937
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: TP53TG3, ABHD17AP7, IGHV2OR16-5, BCAP31P2, IGHV3OR16-15, IGHV1OR16-2, IGHV3OR16-10, IGHV1OR16-4, IGHV3OR16-8, ABHD17AP9, TP53TG3E, SLC6A10P, IGHV3OR16-6, HERC2P8, TP53TG3C, HERC2P5
engchuan_15_ASD_discovery_controls-controlB675955_1007841005
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29497049
CNV End: 30320882
CNV Size: 823834
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, NPIPB12, CA5AP1, SEZ6L2, DOC2A, SMG1P5
engchuan_15_ASD_discovery_controls-controlB879700_1007854073
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29584162
CNV End: 30208204
CNV Size: 624043
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, CA5AP1, SEZ6L2, DOC2A
engchuan_15_ASD_discovery_controls-controlHABC_900033_900033
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34068162
CNV End: 34110339
CNV Size: 42178
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_900049_900049
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34068162
CNV End: 34106423
CNV Size: 38262
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_900281_900281
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 34042728
CNV Size: 545576
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_900316_900316
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33827566
CNV Size: 330414
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_900326_900326
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33827566
CNV Size: 330414
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_900360_900360
Primary Diagnosis: Control
Age: N/A
Gender: N/A
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CNV End: 33827566
CNV Size: 330414
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_900527_900527
Primary Diagnosis: Control
Age: N/A
Gender: N/A
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Family Profile: -
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CNV End: 33896324
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_900775_900775
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33993220
CNV End: 34137733
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Validation Description: -
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CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_900883_900883
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33563814
CNV End: 33896324
CNV Size: 332511
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33563814
CNV End: 33896324
CNV Size: 332511
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, BMS1P8
engchuan_15_ASD_discovery_controls-controlHABC_902586_902586
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
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CNV End: 33966841
CNV Size: 403028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_03
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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CNV End: 33681850
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Validation Description: -
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CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_103
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_108
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
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CNV Start: 33543492
CNV End: 33704215
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Validation Description: -
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CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_108
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
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CNV End: 34061182
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_108
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: TP53TG3D, ACTR3BP3, ABCD1P3, PABPC1P13
girirajan_11_ASD_discovery_controls-NIMH_114
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_115
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 34199966
CNV Size: 656475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, DUX4L45, PCMTD1P2, DUX4L46, DUX4L47, LINC00273, RNA5-8SP2, BMS1P8, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_123
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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CNV End: 32641445
CNV Size: 166245
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_126
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33588938
CNV End: 33674276
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_128
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_141
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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CNV End: 33993056
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, BMS1P8, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_150
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_153
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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CNV End: 33938723
CNV Size: 132026
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_153
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
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Validation Description: -
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CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_157
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_164
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33558649
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_173
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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CNV Size: 181373
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_174
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_180
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33558649
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_184
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33765215
CNV End: 33968220
CNV Size: 203006
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_185
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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CNV End: 33905595
CNV Size: 362104
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_190
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, BMS1P8, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_190
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_195
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 33707362
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_195
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
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CNV Start: 33765210
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_196
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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CNV End: 32641445
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: TP53TG3D, ACTR3BP3, ABCD1P3, PABPC1P13
girirajan_11_ASD_discovery_controls-NIMH_196
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, BMS1P8, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_197
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_202
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_207
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32488913
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Validation Description: -
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CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_215
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_216
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
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Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_219
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_228
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
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Validation Description: -
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CNV Inheritance: Unknown
Family Profile: -
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Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_902605_902605
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_902606_902606
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34006099
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_902617_902617
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902620_902620
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902621_902621
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
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Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902622_902622
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
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CNV Size: 468553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33965705
CNV Size: 468553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902631_902631
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33965705
CNV Size: 468553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902635_902635
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34006099
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Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_902655_902655
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33965705
CNV Size: 468553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902659_902659
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33965705
CNV Size: 468553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902676_902676
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33965705
CNV Size: 468553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902678_902678
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33965705
CNV Size: 468553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902679_902679
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33965705
CNV Size: 468553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902681_902681
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33965705
CNV Size: 468553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902684_902684
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33965705
CNV Size: 468553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
engchuan_15_ASD_discovery_controls-controlHABC_902689_902689
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34006099
CNV End: 34120658
CNV Size: 114560
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_902894_902894
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33497153
CNV End: 33965705
CNV Size: 468553
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BMS1P8, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_228
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 33707362
CNV Size: 163871
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_241
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 33681850
CNV Size: 138359
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_252
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33613376
CNV End: 33681850
CNV Size: 68475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_255
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 33717001
CNV Size: 173510
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_259
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 33763715
CNV Size: 220224
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_267
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33613376
CNV End: 33686762
CNV Size: 73387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_295
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33572773
CNV End: 33681850
CNV Size: 109078
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_306
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33588923
CNV End: 33682473
CNV Size: 93551
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_313
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33569425
CNV End: 33674281
CNV Size: 104857
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_327
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32522764
CNV End: 32593327
CNV Size: 70564
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_37
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 33707362
CNV Size: 163871
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_37
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32254555
CNV End: 32641445
CNV Size: 386891
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: TP53TG3D, ACTR3BP3, ABCD1P3, PABPC1P13
girirajan_11_ASD_discovery_controls-NIMH_37
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33765220
CNV End: 33829057
CNV Size: 63838
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13
girirajan_11_ASD_discovery_controls-NIMH_42
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 33686762
CNV Size: 143271
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_59
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33788677
CNV End: 34095369
CNV Size: 306693
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_11_ASD_discovery_controls-NIMH_63
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 33828607
CNV Size: 285116
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, BMS1P8
girirajan_11_ASD_discovery_controls-NIMH_66
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 33605436
CNV Size: 61945
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_71
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32488913
CNV End: 32567282
CNV Size: 78370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_75
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 33623498
CNV Size: 80007
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_79
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32475502
CNV End: 32593327
CNV Size: 117826
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_controls-NIMH_87
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33543492
CNV End: 33685858
CNV Size: 142367
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_controls-control100
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_controls-control101
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_controls-control102
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_controls-control95
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_controls-control96
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_controls-control97
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 28811178
CNV End: 29041178
CNV Size: 230001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP
girirajan_12_ASD/DD/ID_discovery_controls-control98
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_12_ASD/DD/ID_discovery_controls-control99
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29641178
CNV End: 30191178
CNV Size: 550001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
girirajan_13a_ASD_discovery_controls3-control19
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_controls3-control20
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_controls3-control21
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_controls3-control22
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13a_ASD_discovery_controls3-control23
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29506178
CNV End: 30356178
CNV Size: 850001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, CD2BP2, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, CA5AP1, SEZ6L2, DOC2A, SMG1P5
girirajan_13b_ASD_discovery_controls-10908109454
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33807175
CNV End: 33968215
CNV Size: 161041
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, ARHGAP23P1
girirajan_13b_ASD_discovery_controls-12508109518
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33806873
CNV End: 33993056
CNV Size: 186184
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_13b_ASD_discovery_controls-1306105504
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32488913
CNV End: 32592656
CNV Size: 103744
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-15110112933
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33688579
CNV End: 33744361
CNV Size: 55783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-24809111471
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33765541
CNV End: 33993056
CNV Size: 227516
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_13b_ASD_discovery_controls-25205103118
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32488913
CNV End: 32593327
CNV Size: 104415
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-25205103118
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33814559
CNV End: 33968220
CNV Size: 153662
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, ARHGAP23P1
girirajan_13b_ASD_discovery_controls-26405103148
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33805667
CNV End: 34061182
CNV Size: 255516
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
glessner_09_ASD_discovery_controls-disccontrol2
Primary Diagnosis: Control
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_discovery_controls-disccontrol3
Primary Diagnosis: Control
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_discovery_controls-disccontrol4
Primary Diagnosis: Control
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_discovery_controls-disccontrol5
Primary Diagnosis: Control
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
glessner_09_ASD_discovery_controls-disccontrol6
Primary Diagnosis: Control
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29636022
CNV End: 30166486
CNV Size: 530465
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0001
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0002
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0003
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0004
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0005
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0006
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0007
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0008
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kaminsky_11_DD/ID/ASD_discovery_controls-control0009
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29638675
CNV End: 30188534
CNV Size: 549860
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
golzio_12_ASD_discovery_controls-control1
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_controls-control2
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_controls-control3
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_controls-control4
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
golzio_12_ASD_discovery_controls-control5
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13
girirajan_13b_ASD_discovery_controls-30109111610
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33762057
CNV End: 34026578
CNV Size: 264522
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_13b_ASD_discovery_controls-306105441
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33806873
CNV End: 33968220
CNV Size: 161348
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, ARHGAP23P1
girirajan_13b_ASD_discovery_controls-30706106486
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32562498
CNV End: 32619369
CNV Size: 56872
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-33006106538
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35241748
CNV End: 35649178
CNV Size: 407431
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FRG2JP, RARRES2P6, AGGF1P8, FRG2HP, RARRES2P9, AGGF1P9, C2orf69P4, FRG2GP, RARRES2P7, AGGF1P5, C2orf69P3, ZNF971P, FRG2DP, RARRES2P10, AGGF1P6, C2orf69P2, TP53TG3HP, RARRES2P8, AGGF1P7, C1QL1P1, KIF18BP1, FRG2IP, C2orf69P1, LINC01566, AGGF1P4
girirajan_13b_ASD_discovery_controls-34107108649
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33572773
CNV End: 33681850
CNV Size: 109078
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-34108110389
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32488913
CNV End: 32593327
CNV Size: 104415
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-3506105586
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32475497
CNV End: 32593327
CNV Size: 117831
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-36206106646
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32475201
CNV End: 32618287
CNV Size: 143087
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-36206106646
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33807175
CNV End: 34163037
CNV Size: 355863
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, DUX4L45, PCMTD1P2, DUX4L46, DUX4L47, LINC00273, RNA5-8SP2, ARHGAP23P1
girirajan_13b_ASD_discovery_controls-37205104108
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33592037
CNV End: 33648650
CNV Size: 56614
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-40804101794
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32522764
CNV End: 32641445
CNV Size: 118682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-45304101644
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30345926
CNV End: 30816915
CNV Size: 470990
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CD2BP2, SEPHS2, RNU7-61P, MIR4518, ZNF768, ZNF747, ZNF785, FBRS, RNU6-416P, RNU6-1043P, SNORA30, TMEM265, CCDC189, TBC1D10B, MYLPF, ZNF48, SEPT1, DCTPP1, ITGAL, ZNF764, ZNF688, ZNF689, PRR14, SRCAP, PHKG2, RNF40, ZNF629, ZNF771
girirajan_13b_ASD_discovery_controls-47006107031
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33635593
CNV End: 33707362
CNV Size: 71770
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-4906105609
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32488913
CNV End: 32593327
CNV Size: 104415
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-51406107186
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33765210
CNV End: 33968220
CNV Size: 203011
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, ARHGAP23P1
girirajan_13b_ASD_discovery_controls-52809112566
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33765531
CNV End: 34061182
CNV Size: 295652
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ENPP7P13, IGHV3OR16-12, IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, ARHGAP23P1
girirajan_13b_ASD_discovery_controls-53306107454
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33807175
CNV End: 34199966
CNV Size: 392792
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGHV3OR16-13, IGHV3OR16-11, IGHV3OR16-7, IGHV3OR16-16, BCAP31P1, DUX4L45, PCMTD1P2, DUX4L46, DUX4L47, LINC00273, RNA5-8SP2, ARHGAP23P1
girirajan_13b_ASD_discovery_controls-54606107478
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32309484
CNV End: 32434215
CNV Size: 124732
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-56606107560
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33627407
CNV End: 33685584
CNV Size: 58178
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-69405105404
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28603090
CNV End: 29334936
CNV Size: 731847
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CDC37P1, MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SULT1A1, NPIPB8, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, EIF3C, ATXN2L, NFATC2IP, RRN3P2, SNX29P2
girirajan_13b_ASD_discovery_controls-8206105715
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33683117
CNV End: 33763715
CNV Size: 80599
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-8808109366
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32536305
CNV End: 32593327
CNV Size: 57023
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
krumm_13_ASD_discovery_controls-control11229.s1
Clinical Profile:
Unaffected sibling from SSC quad family 11229. SRS score of 48.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 31465849
CNV End: 31476562
CNV Size: 10714
Validation Description: Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ARMC5, TGFB1I1
krumm_13_ASD_discovery_controls-control12152.s1
Clinical Profile:
Unaffected sibling from SSC quad family 12152. SRS score of 42.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 30781717
CNV End: 30838384
CNV Size: 56668
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ZNF629, BCL7C
krumm_15_ASD_discovery_controls-control11229.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31465849
CNV End: 31476562
CNV Size: 10714
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ARMC5, TGFB1I1
krumm_15_ASD_discovery_controls-control12152.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30781717
CNV End: 30838384
CNV Size: 56668
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ZNF629, BCL7C
krumm_15_ASD_discovery_controls-control12220.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31465849
CNV End: 31477010
CNV Size: 11162
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ARMC5, TGFB1I1
krumm_15_ASD_discovery_controls-control13171.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31465849
CNV End: 31477576
CNV Size: 11728
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ARMC5, TGFB1I1
krumm_15_ASD_discovery_controls-control13509.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29663728
CNV End: 30188576
CNV Size: 524849
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SEZ6L2, DOC2A
kumar_08_ASD_replication_controls-04C34861
Primary Diagnosis: Control
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29681178
CNV End: 30281178
CNV Size: 600001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
kumar_08_ASD_replication_controls-04C36902
Primary Diagnosis: Control
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29681178
CNV End: 30281178
CNV Size: 600001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
mccarthy_09_SCZ_discovery_controls-control11158E8
Primary Diagnosis: Control
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30007179
CNV Size: 366013
Validation Description: Affy 500K
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, SEZ6L2, DOC2A
mccarthy_09_SCZ_discovery_controls-control129998A
Primary Diagnosis: Control
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30308986
CNV Size: 667820
Validation Description: Affy 500K
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
mccarthy_09_SCZ_discovery_controls-control15051D6
Primary Diagnosis: Control
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30308986
CNV Size: 667820
Validation Description: Affy 500K
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
mccarthy_09_SCZ_discovery_controls-control15387D8
Primary Diagnosis: Control
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29641167
CNV End: 30308986
CNV Size: 667820
Validation Description: Affy 500K
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, BOLA2B, SULT1A3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, SLX1A, SLX1A-SULT1A3, NPIPB13, SEZ6L2, DOC2A, SMG1P5
mccarthy_09_SCZ_replication_controls-control36604
Primary Diagnosis: Control
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29390980
CNV End: 30166486
CNV Size: 775507
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: BOLA2, BOLA2-SMG1P6, SLX1B, SULT1A4, MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, NPIPB11, SMG1P6, SLX1B-SULT1A4, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, NPIPB12, CA5AP1, SEZ6L2, DOC2A
mccarthy_09_SCZ_replication_controls-control39636
Primary Diagnosis: Control
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 29506378
CNV End: 30180574
CNV Size: 674197
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, SMG1P2, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
levy_11_ASD_discovery_controls-11555.s1
Primary Diagnosis: Control
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28117284
CNV End: 28257621
CNV Size: 140338
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNY1P10, GAPDHP35, XPO6
poultney_13_ASD_discovery_controls-control04C29553A
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28592261
CNV End: 28595932
CNV Size: 3672
Validation Description: Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_controls-control04C30251A
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28825364
CNV End: 29359337
CNV Size: 533974
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, NPIPB10P, ATXN2L, NFATC2IP, RRN3P2, SNX29P2
leppa_16_ASD_discovery_controls-AU002904
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 29635679
CNV End: 30166679
CNV Size: 531001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kushima_18_ASD/SCZ_discovery_controls-controlCON0451
Clinical Profile:
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Control
Age: 54 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29595090
CNV End: 30184960
CNV Size: 589871
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3680-2, SLC7A5P1, SPN, RN7SKP127, C16orf54, ZG16, MAZ, PRRT2, CDIPT, HIRIP3, C16orf92, TBX6, YPEL3, MAPK3, CORO1A, QPRT, KIF22, PAGR1, MVP, CDIPTOSP, ASPHD1, KCTD13, TMEM219, TAOK2, INO80E, FAM57B, ALDOA, PPP4C, GDPD3, CA5AP1, SEZ6L2, DOC2A
kushima_18_ASD/SCZ_discovery_controls-controlCON1741
Clinical Profile:
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Control
Age: 26 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28715727
CNV End: 29028262
CNV Size: 312536
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6862-2, TUFM, MIR4721, ATP2A1-AS1, MIR4517, LAT, NPIPB9, SH2B1, ATP2A1, RABEP2, CD19, SPNS1, EIF3C, ATXN2L, NFATC2IP
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0451
Clinical Profile:
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I et al. (2022)