16p11.2
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
429492Range
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
112Populations
135 (129 case / 6 control)Individuals
1545 (1226 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 (112 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) |
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:
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:
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:
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:
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:
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:
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:
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 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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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
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
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
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
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
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
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
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
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
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
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-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
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
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
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
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: -
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
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
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
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: -
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-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: -
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)