17q12
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
953121Range
37228545-39077997Associated Human Genes
CACNB1, GGNBP2, PPP1R1B, SLFN5Associated Mouse Models
-Autism Reports
64Populations
79 (73 case / 6 control)Individuals
487 (391 case / 96 control)Summary
Deletions and duplications at the 17q12 locus have been observed not only in individuals with ASD, but also in individuals with schizophrenia. CNVs at the 17q12 locus may also be responsible for RCAD (renal cysts and diabetes).
External Links
Reports related to 17q12 (64 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Major | Structural variation of chromosomes in autism spectrum disorder. | Marshall CR , et al. (2008) |
| 2 | Minor | Identifying autism loci and genes by tracing recent shared ancestry. | Morrow EM , et al. (2008) |
| 3 | Minor | Clinical genetic testing for patients with autism spectrum disorders. | Shen Y , et al. (2010) |
| 4 | Major | Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D , et al. (2010) |
| 5 | Major | Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. | Loirat C , et al. (2010) |
| 6 | Major | Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. | Rosenfeld JA , et al. (2010) |
| 7 | Minor | Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. | Wang LS , et al. (2010) |
| 8 | Major | Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. | Moreno-De-Luca D , et al. (2010) |
| 9 | Major | Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. | Bremer A , et al. (2011) |
| 10 | Minor | Rare structural variation of synapse and neurotransmission genes in autism. | Gai X , et al. (2011) |
| 11 | 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) |
| 12 | Minor | Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D , et al. (2011) |
| 13 | 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) |
| 14 | 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) |
| 15 | Minor | Relative burden of large CNVs on a range of neurodevelopmental phenotypes. | Girirajan S , et al. (2011) |
| 16 | Minor | Rare deletions at the neurexin 3 locus in autism spectrum disorder. | Vaags AK , et al. (2012) |
| 17 | Major | Complex autism spectrum disorder in a patient with a 17q12 microduplication. | Brandt T , et al. (2012) |
| 18 | Minor | Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum. | George AM , et al. (2012) |
| 19 | Minor | The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. | Tzetis M , et al. (2012) |
| 20 | Major | Phenotypic heterogeneity of genomic disorders and rare copy-number variants. | Girirajan S , et al. (2012) |
| 21 | Minor | Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. | Iourov IY , et al. (2013) |
| 22 | Minor | A discovery resource of rare copy number variations in individuals with autism spectrum disorder. | Prasad A , et al. (2013) |
| 23 | 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) |
| 24 | Major | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. | Girirajan S , et al. (2013) |
| 25 | Major | Global increases in both common and rare copy number load associated with autism. | Girirajan S , et al. (2013) |
| 26 | Minor | Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. | Nava C , et al. (2013) |
| 27 | Major | Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... | Battaglia A , et al. (2013) |
| 28 | Minor | Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. | Soorya L , et al. (2013) |
| 29 | Major | Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. | Mulle JG , et al. (2013) |
| 30 | Major | Transmission disequilibrium of small CNVs in simplex autism. | Krumm N , et al. (2013) |
| 31 | Minor | Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS , et al. (2013) |
| 32 | Major | 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) |
| 33 | Major | Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case. | Palumbo P , et al. (2014) |
| 34 | Major | Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. | Pinto D , et al. (2014) |
| 35 | MiMinorr | 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. | Reinthaler EM , et al. (2014) |
| 36 | Major | Clinical report of a 17q12 microdeletion with additionally unreported clinical features. | Roberts JL , et al. (2014) |
| 37 | Minor | Refining analyses of copy number variation identifies specific genes associated with developmental delay. | Coe BP , et al. (2014) |
| 38 | Major | Performance of case-control rare copy number variation annotation in classification of autism. | Engchuan W , et al. (2015) |
| 39 | Major | Excess of rare, inherited truncating mutations in autism. | Krumm N , et al. (2015) |
| 40 | Minor | The landscape of copy number variations in Finnish families with autism spectrum disorders. | Kanduri C , et al. (2015) |
| 41 | Minor | Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. | Tammimies K , et al. (2015) |
| 42 | 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) |
| 43 | Minor | The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. | Wenger TL , et al. (2016) |
| 44 | Minor | Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. | Yin CL , et al. (2016) |
| 45 | Minor | 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. | Rasmussen M , et al. (2016) |
| 46 | Minor | Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. | Leppa VM , et al. (2016) |
| 47 | Major | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) |
| 48 | Minor | Copy number variation analysis of patients with intellectual disability from North-West Spain. | Quintela I , et al. (2017) |
| 49 | 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) |
| 50 | Minor | Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder. | Li SJ , et al. (2018) |
| 51 | Major | Paternally inherited cis-regulatory structural variants are associated with autism. | Brandler WM , et al. (2018) |
| 52 | Major | NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families. | Al Shehhi M , et al. (2018) |
| 53 | Minor | De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism. | Fan Y , et al. (2018) |
| 54 | Minor | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. | Kushima I , et al. (2018) |
| 55 | Major | Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. | Guo H , et al. (2018) |
| 56 | Minor | Both rare and common genetic variants contribute to autism in the Faroe Islands. | Leblond CS , et al. (2019) |
| 57 | Minor | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) |
| 58 | Minor | The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing | Wang J et al. (2020) |
| 59 | Minor | Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder | Mahjani B et al. (2021) |
| 60 | Minor | Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean | Verberne EA et al. (2022) |
| 61 | Minor | Diagnostic yield of patients with undiagnosed intellectual disability | Leite AJDC et al. (2022) |
| 62 | Major | Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder | Kushima I et al. (2022) |
| 63 | Minor | Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder | Chan AJS et al. (2022) |
| 64 | Minor | Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort | Hosneara Akter et al. () |
17q12
Description:
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
Diagnosis:
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Battaglia A , et al. (2013)Cohort Size: 349
Age Min: 30
Age Max: 30
Average: 30
Male: 100
Female: -
Unknown: -
CNV Size: 1300000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, array SNP
Validation Method:
FISH, qPCR
Platform: BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Italy
17q12
Description:
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
Diagnosis:
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Al Shehhi M , et al. (2018)Cohort Size: 34
Age Min: 115
Age Max: 115
Average: 115
Male: 100
Female: -
Unknown: -
CNV Size: 1392864
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Platform: Platform N/A
Software: -
Algorithm: -
Geographical Ancestry: Ireland
17q12
Description:
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
Diagnosis:
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
Hosneara Akter et al. ()Cohort Size: 576
Age Min: 40.8
Age Max: 51.96
Average: 46.38
Male: 100
Female: -
Unknown: -
CNV Size: 1688559
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
CMA
Validation Method:
-
Platform: Illumina Global Screening Array-24+ v3.0
Software: Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
Algorithm: -
Geographical Ancestry: Bangladesh
17q12
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: 110000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
MLPA, FISH
Platform: BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
Software: -
Algorithm: -
Geographical Ancestry: Swedish
17q12
Description:
Only child of non-consanguinenous parents of Ashkenazi Jewish origin with no family history of intellectual disability, autism/ASD, or other psychiatric illness
Diagnosis:
Diagnosis of autism; diagnosis based on evaluation using ADOS-G Module 1, ADI-R, and psychiatric evaluation by psychiatrist with ASD clinical expertise. Cognitive assessment made using Mullen Scales of Early Learning, adaptive functioning evaluation made with VABS-II.
Brandt T , et al. (2012)Cohort Size: 1
Age Min: 60
Age Max: 60
Average: 60
Male: 100
Female: -
Unknown: -
CNV Size: 1400000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH, array SNP (Affymetrix 6.0)
Platform: Agilent Human CGH 1X244A
Software: DNA Analytics 5.0.14; Nexus5 Copy Number, Discovery Edition 5.1
Algorithm: ADM-1
Geographical Ancestry: Ashkenazi Jewish
17q12
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: 1819291
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
17q12
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: 174416
Deletion: 2
Duplication: 0
Total CNV: 2
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
17q12
Description:
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
Diagnosis:
Cases diagnosed with ASD
Brandler WM , et al. (2018)Cohort Size: 1979
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 2257
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
None
Platform: Illumina HiSeq X10
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A
17q12
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: 33
Female: 67
Unknown: -
CNV Size: 1849452
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
Solid phase hybridization (Illumina 1M SNP), qPCR
Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -
17q12
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: 100
Female: -
Unknown: -
CNV Size: 1446906
Deletion: 0
Duplication: 1
Total CNV: 1
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
17q12
Description:
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
Diagnosis:
Intellectual disability, developmental delay, and/or ASD
Coe BP , et al. (2014)Cohort Size: 29085
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1390000
Deletion: 20
Duplication: 23
Total CNV: 43
Discovery Method:
aCGH
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
17q12
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: 1702285
Deletion: 10
Duplication: 10
Total CNV: 20
Discovery Method:
Solid phase hybridization
Validation Method:
Yes
Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
17q12
Description:
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
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: 631
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1012482
Deletion: 1
Duplication: 2
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European
17q12
Description:
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
Diagnosis:
All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
Fan Y , et al. (2018)Cohort Size: 3
Age Min: 48
Age Max: 48
Average: 48
Male: 100
Female: -
Unknown: -
CNV Size: 383673
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP, solid phase hybridization
Validation Method:
None
Platform: Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
Software: -
Algorithm: -
Geographical Ancestry: Chinese
17q12
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: 50
Female: 50
Unknown: -
CNV Size: 1262333
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
WES
Validation Method:
None
Platform: Illumina HumanCoreExome 550K
Software: CoNIFER, XHMM
Algorithm: -
Geographical Ancestry: N/A
17q12
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: 86
Female: 14
Unknown: -
CNV Size: 1088070
Deletion: 0
Duplication: 7
Total CNV: 7
Discovery Method:
aCGH
Validation Method:
None
Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -
17q12
Description:
Female patient referred to clinical genetics service for evaluation due to family history of learning difficulties
Diagnosis:
Behavioral problems (attention deficit, hyperactivity, disruptive behavior) and learning difficulties
George AM , et al. (2012)Cohort Size: 1
Age Min: 84
Age Max: 84
Average: 84
Male: -
Female: 100
Unknown: -
CNV Size: 1400000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M
Software: Affymetrix ChAS v.1.0.1
Algorithm: -
Geographical Ancestry: New Zealand
17q12
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: 26
Age Max: 216
Average: 143.5
Male: 3
Female: 3
Unknown: 94
CNV Size: 1410000
Deletion: 26
Duplication: 35
Total CNV: 61
Discovery Method:
aCGH
Validation Method:
FISH, aCGH, or confirmation by inheritance
Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -
17q12
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: 2305459
Deletion: 3
Duplication: 2
Total CNV: 5
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
17q12
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: 2305459
Deletion: 14
Duplication: 0
Total CNV: 14
Discovery Method:
N/A
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: NA
17q12
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: 88437
Deletion: 0
Duplication: 14
Total CNV: 14
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
17q12
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: 1591999
Deletion: 0
Duplication: 1
Total CNV: 1
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
17q12
Description:
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
Diagnosis:
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Iourov IY , et al. (2013)Cohort Size: 54
Age Min: 28
Age Max: 28
Average: 28
Male: 100
Female: -
Unknown: -
CNV Size: 66288
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: Russian
17q12
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: 2038419
Deletion: 19
Duplication: 26
Total CNV: 45
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
17q12
Description:
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
Diagnosis:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
Kanduri C , et al. (2015)Cohort Size: 80
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1428808
Deletion: 2
Duplication: 2
Total CNV: 4
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Human OmniExpress-12v1.0 BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish
17q12
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: 1211925
Deletion: 3
Duplication: 0
Total CNV: 3
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
17q12
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: 64
Female: 36
Unknown: -
CNV Size: 1262332
Deletion: 10
Duplication: 5
Total CNV: 15
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
17q12
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: 108
Age Max: 324
Average: 232.8
Male: 40
Female: 60
Unknown: -
CNV Size: 1851536
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
17q12
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: 108
Age Max: 324
Average: 232.8
Male: 40
Female: 60
Unknown: -
CNV Size: 1638045
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
17q12
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: 2031124
Deletion: 2
Duplication: 0
Total CNV: 2
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
17q12
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: 2066629
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
17q12
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: 1995612
Deletion: 1
Duplication: 0
Total CNV: 1
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
17q12
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: -
Female: 100
Unknown: -
CNV Size: 1487177
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
-
Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -
17q12
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: 50
Female: -
Unknown: 50
CNV Size: 1434000
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
Solid phase hybridization
Validation Method:
None
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
17q12
Description:
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
Diagnosis:
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
Leblond CS , et al. (2019)Cohort Size: 36
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1555900
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization, WES
Validation Method:
None
Platform: Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
Software: XHMM
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: Faroe Islands
17q12
Description:
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
Diagnosis:
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
Leite AJDC et al. (2022)Cohort Size: 369
Age Min: 216
Age Max: 216
Average: 216
Male: 100
Female: -
Unknown: -
CNV Size: 128366
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
CMA
Validation Method:
None
Platform: Thermofisher GeneChip CytoScanHD
Software: ThermoFisher ChAS v.3.0
Algorithm: NA
Geographical Ancestry: Brazil
17q12
Description:
Autistic patients belonging to a cohort of 53 children with kidney disease (cystic or hyperechogenic kidneys) and a heterozygous deletion encompassing the HNF1B gene.
Diagnosis:
Diagnosis of autism based on American Psychiatric Association criteria and ADI-R scores.
Loirat C , et al. (2010)Cohort Size: 3
Age Min: 42
Age Max: 108
Average: 65.2
Male: 100
Female: -
Unknown: -
CNV Size: 1849783
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
qmPCR
Validation Method:
Solid phase hybridization (Illumina HumanCNV370)
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: France
17q12
Description:
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
Diagnosis:
Diagnosis of ASD made according to DSM-IV
Li SJ , et al. (2018)Cohort Size: 13
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 194285
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Low-coverage WGS
Validation Method:
None
Platform: Illumina HiSeq 2000 or 2500 analyzers
Software: -
Algorithm: PSCC
Geographical Ancestry: Chinese
17q12
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: 100
Female: -
Unknown: -
CNV Size: 1425003
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
WES
Validation Method:
None
Platform: Infinium OmniExpress Exome
Software: NA
Algorithm: PennCNV
Geographical Ancestry: Sweden
17q12
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: -
Female: 100
Unknown: -
CNV Size: 975400
Deletion: 0
Duplication: 1
Total CNV: 1
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
17q12
Description:
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
Diagnosis:
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
Morrow EM , et al. (2008)Cohort Size: 94
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 33000
Deletion: 0
Duplication: 4
Total CNV: 4
Discovery Method:
Array SNP
Validation Method:
-
Platform: Affymetrix 500K
Software: dChip
Algorithm: BRLMM
Geographical Ancestry: Arabic Middle East, Turkey, and Pakistan
17q12
Description:
Samples from International Standards for Cytogenomic Arrays (ISCA) Consortium
Diagnosis:
ASD (referring diagnosis in 15-20% of cases), developmental delay, and/or intellectual disability
Moreno-De-Luca D , et al. (2010)Cohort Size: 15749
Age Min: 12
Age Max: 12
Average: 12
Male: 47
Female: 53
Unknown: -
CNV Size: 1400000
Deletion: 18
Duplication: 21
Total CNV: 39
Discovery Method:
aCGH
Validation Method:
FISH, qPCR
Platform: Agilent 4x44K, 2x105K, 4x180K
Software: -
Algorithm: -
Geographical Ancestry: -
17q12
Description:
Samples from SSC and deCODE Genetic (Iceland)
Diagnosis:
ASD/neurodevelopmental delay
Moreno-De-Luca D , et al. (2010)Cohort Size: 1182
Age Min: 12
Age Max: 12
Average: 12
Male: 47
Female: 53
Unknown: -
CNV Size: 1400000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
-
Platform: Illumina Human 1M and 1M Duo microarrays (SSC samples), Illumina SNP microarrays (all others)
Software: BeadStudio
Algorithm: PennCNV, CNVision v1.0 (PennCNV, QuantiSNP v1.1, GNOSIS)
Geographical Ancestry: 31 Chinese, 728 European American, 6 Japanese, 41 African American, 376 Icelandic
17q12
Description:
Samples from SGENE Consortium and GAIN
Diagnosis:
Schizophrenia
Moreno-De-Luca D , et al. (2010)Cohort Size: 6340
Age Min: 12
Age Max: 12
Average: 12
Male: 47
Female: 53
Unknown: -
CNV Size: 1400000
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
Array SNP
Validation Method:
-
Platform: Affymetrix 6.0, Illumina
Software: -
Algorithm: Penn CNV
Geographical Ancestry: 565 Denmark, 648 Scotland, 1086 Germany, 91 UK, 84 Italy, 187 Finland, 613 Holland, 274 Norway, 625 Iceland, 952 African American, 1215 European American
17q12
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: 984236
Deletion: 0
Duplication: 2
Total CNV: 2
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
17q12
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: 195
Age Max: 195
Average: 195
Male: 100
Female: -
Unknown: -
CNV Size: 76000
Deletion: 1
Duplication: 0
Total CNV: 1
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
17q12
Description:
12-year-old male patient born to non-consanguineous parents with no family history of intellectual disability, autism, or other psychiatric illness
Diagnosis:
Intellectual disability, speech delay, autistic features, and ADHD
Palumbo P , et al. (2014)Cohort Size: 1
Age Min: 144
Age Max: 144
Average: 144
Male: 100
Female: -
Unknown: -
CNV Size: 1428000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
Array SNP (Affymetrix CytoScan HD array)
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: Birdseed v2
Geographical Ancestry: Italy
17q12
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: 120120
Deletion: 2
Duplication: 1
Total CNV: 3
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
17q12
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: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1702286
Deletion: 0
Duplication: 2
Total CNV: 2
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
17q12
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: 67
Female: 33
Unknown: -
CNV Size: 976668
Deletion: 3
Duplication: 3
Total CNV: 6
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada
17q12
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: 33
Female: 67
Unknown: -
CNV Size: 423307
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
WES
Validation Method:
None
Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European
17q12
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: 144
Age Max: 144
Average: 144
Male: -
Female: 100
Unknown: -
CNV Size: 1860549
Deletion: 0
Duplication: 1
Total CNV: 1
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
17q12
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: 1128477
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH
Platform: BACs aCGH, whole-genome oligo-aCGH
Software: -
Algorithm: -
Geographical Ancestry: -
17q12
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: 1459097
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian
17q12
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: -
Female: 100
Unknown: -
CNV Size: 1367000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina HumanOmniExpress BeadChip
Software: Illumina Genome Viewer
Algorithm: PennCNV
Geographical Ancestry: Caucasian
17q12
Description:
17-year-old male proband of Caucasian descent
Diagnosis:
Diagnoses of autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and obsessive compulsve behavior (OCD); diagnostic tools N/A. Additional diagnosis of intellectual disability (ID; full scale IQ of 66 using Wechsler Intelligence Scale for Children-IV)
Roberts JL , et al. (2014)Cohort Size: 1
Age Min: 204
Age Max: 204
Average: 204
Male: 100
Female: -
Unknown: -
CNV Size: 1887262
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, array SNP
Validation Method:
FISH
Platform: Ambry CMA 400K CGH + SNP array (300K aCGH probes, 100K SNP probes)
Software: BioDiscovery Nexus
Algorithm: -
Geographical Ancestry: Caucasian
17q12
Description:
38 Danish patients (19 index patients and 19 family members) diagnosed with 17q12 deletions and duplications since chromosomal microarray (CMA) became a clinically available diagnostic tool in Denmark in 2006
Diagnosis:
Majority of cases presented with learning disability, delayed motor milestones, and/or delayed language development
Rasmussen M , et al. (2016)Cohort Size: 38
Age Min: 2
Age Max: 648
Average: 229.38235294118
Male: 39
Female: 61
Unknown: -
CNV Size: 1400000
Deletion: 12
Duplication: 26
Total CNV: 38
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: Agilent 180K, Agilent 400K, Oxford Gene Technology CytoSure Syndrome Plus v2 105K, Illumina HumanCytoSNP-12 v2.1 300K, Affymetrix 250K
Software: -
Algorithm: -
Geographical Ancestry: Denmark
17q12
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: 56
Female: 44
Unknown: -
CNV Size: 1680362
Deletion: 13
Duplication: 1
Total CNV: 14
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&
17q12
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: 100
Female: -
Unknown: -
CNV Size: 1400000
Deletion: 1
Duplication: 0
Total CNV: 1
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: -
17q12
Description:
Serially ascertained sample of patients with SHANK3 deficiency evaluated over an 18-month period.
Diagnosis:
27/32 (84%) of cases met criteria for ASD; evaluation for ASD made using ADI-R and ADOS-G. 29/30 cases with some degree of intellectual disability (77% with severe-to-profound ID); evaluation for ID made using Mullen Scales of Early Learning (27 cases), Stanford-Binet Intelligence Scales, 5th ed. (1 case), and Leiter-R (2 cases).
Soorya L , et al. (2013)Cohort Size: 32
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1433875
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Karyotyping, FISH, aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
17q12
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: 50
Female: -
Unknown: 50
CNV Size: 120000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon
17q12
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: 50
Female: -
Unknown: 50
CNV Size: 0
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon
17q12
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: 24
Age Max: 36
Average: 30
Male: 100
Female: -
Unknown: -
CNV Size: 1638000
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
17q12
Description:
Patients referred for aCGH analysis from 2008-present
Diagnosis:
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Tzetis M , et al. (2012)Cohort Size: 334
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 2700000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 244K, Agilent 4x180K
Software: Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
Algorithm: ADM-1
Geographical Ancestry: Greece
17q12
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: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1807231
Deletion: 0
Duplication: 1
Total CNV: 1
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
17q12
Description:
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
Diagnosis:
ASD (according to DSM-IV criteria)
Wang LS , et al. (2010)Cohort Size: 103
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 979000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina HumanHap550 BeadChip
Software: BeadStudio
Algorithm: PennCNV
Geographical Ancestry: Croatian
17q12
Cohort Size: 1158
Age Min: 42
Age Max: 199
Average: 120.5
Male: 100
Female: -
Unknown: -
CNV Size: 95674
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
17q12
Description:
Replication cohort consisting of patients referred to the Mayo Clinic
Diagnosis:
Autism or pervasive developmental disorder (PDD)
Vaags AK , et al. (2012)Cohort Size: 1796
Age Min: 42
Age Max: 199
Average: 120.5
Male: 100
Female: -
Unknown: -
CNV Size: 32952
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 44K & 244K
Software: -
Algorithm: -
Geographical Ancestry: NA
17q12
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: 87719
Deletion: 1
Duplication: 1
Total CNV: 2
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
17q12
Description:
Patients recruited from the Department of Neurology, Affiliated Childrens Hospital of the Capital Institute of Pediatrics (Beijing, China) between Jan. 2016.01 and Dec. 2018.
Diagnosis:
All cases presented with intellectual disability (ID); 52 patients had ID with multiple congenital anomalies, and 14 patients had ID with autism spectrum disorder
Wang J et al. (2020)Cohort Size: 95
Age Min: 55
Age Max: 55
Average: 55
Male: 100
Female: -
Unknown: -
CNV Size: 1690205
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
None
Platform: Illumina HiSeq 2000
Software: Short Oligonucleotide Analysis Package (SOAP) v.2.21
Algorithm: -
Geographical Ancestry: Han Chinese
17q12
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: 1834899
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
CMA
Validation Method:
None
Platform: NA
Software: NA
Algorithm: NA
Geographical Ancestry: Dutch Caribbean
17q12
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: 82100
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
17q12
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: 1732499
Deletion: 1
Duplication: 3
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
akter_24_ASD/ADHD/DD/ID_discovery_cases-case388
Clinical Profile:
Developmental milestones: delayed speech and language development (HP:0000750), global developmental delay (HP:0001263). Behavioral/psychiatric evaluation: atypical behavior (HP:0000708). Growth parameters: head circumference 54 cm, height 102 cm, weight 20 kg.
Cognitive Profile:
-
Hosneara Akter et al. ()Primary Diagnosis: Developmental delay
Age: 4.33 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36201250
CNV End: 37889808
CNV Size: 1688559
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ACACA, AATF, MRM1, DHRS11, GGNBP2, MYO19, TBC1D3F, C17orf78, PIGW, YWHAEP7, TBC1D3H, LHX1, HMGB1P24, MIR2909, TBC1D3JP, TBC1D3G, MIR378J, LHX1-DT, TBC1D3I, RNA5SP439, TADA2A, HNF1B, RNU6-1192P, ZNHIT3, CCL4L2, SYNRG, DDX52, DUSP14
al_shehhi_18_ASD/DD/ID_discovery_cases-case16
Clinical Profile:
ASD, speech and language delay, hypotonia, pyloric stenosis
Cognitive Profile:
Learning disability
Al Shehhi M , et al. (2018)Primary Diagnosis: ASD and developmental delay
Age: 9 yrs. 7 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
akter_24_ASD/ADHD/DD/ID_discovery_cases-case513
Clinical Profile:
Developmental milestones: delayed speech and language development (HP:0000750). Behavioral/psychiatric evaluation: autism (HP:0000717), ADHD (HP:0007018). Epilepsy/seizures: seizure (HP:0001250). Dysmorphic features: abnormal facial shape (HP:0001999). Growth parameters: head circumference 48 cm, height 93 cm, weight 14 kg.
Cognitive Profile:
-
Hosneara Akter et al. ()Primary Diagnosis: ASD, ADHD, developmental delay, and seizures
Age: 3.4 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34815551
CNV End: 36249430
CNV Size: 1433880
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: AP2B1, E2F3P1, SLFN12, FNDC8, NLE1, LYZL6, MMP28, RASL10B, SLFN11, ZNF830, RFFL, SLFN13, SLC35G3, C17orf50, UNC45B, RDM1, SLFN5, HEATR9, GAS2L2, SLFN14, CCL15-CCL14, TBC1D3B, CCL3L3, TAF5LP1, SNORD7, UFM1P2, LIG3, LRRC37A9P, SLFN12L, TOMM20P2, PEX12, RAD51D, CCL3-AS1, SNHG30, CCL23, CCL18, CCL3, CCL5, CCL16, CCL15, CCL14, CCL4, RNU6-840P, RN7SL301P, TAF15, CCL4L2, CCT6B
battaglia_13_DD/ID/ASD_discovery_cases-case40
Clinical Profile:
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Cognitive Profile:
Moderate DD/ID
Battaglia A , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: 2 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30697393
CNV End: 32040195
CNV Size: 1342803
Validation Description: FISH or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SH3GL1P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
brandt_12_ASD_discovery_cases-case1
Clinical Profile:
Diagnosis of autism based on evaluation using ADOS-G Module 1, ADI-R, and psychiatric evaluation by psychiatrist with ASD clinical expertise. Birth/neonatal history: born at 36 weeks to 40 and 46 yr old parents via planned C-section due to prior maternal fibroid surgery; no reported abnormalities on prenatal ultrasound; no perinatal complications; birth weight 50th %ile. Devleopmental milestones: delayed milestones; first sat unsupported at 12 months, first crawled at 18 months, first walked at 24 months; first use of single words at 3 years; no reported regression or loss of skills. Language and communication evaluation: vocabulary of five words at age of 5 yrs.; significant impairment in receptive and expressive language domains; no capacity for joint attention or three-point gaze; typically pulled other's hands to desired objects; no development of oral-motor imitation skills. Behavioral/psychiatric evaluation: repetitive & compulsive-like behaviors (hyperventilating accompanied by loud stereotypic vocalizations, opening and closing of pop-up toy door, hand flapping while stomping feet); engagement in largely self-directed behavior during ADOS-G evaluation; several critical early social behaviors inconsistent or absent (responding to name, initiating shared attention); lack of pointing to reference objects or use of conventional gestures (nodding or shrugging); lack of normalized play, functional or pretend, with toys (interest in toys largely sensory in nature, e.g. mouthing toys); unusual sensory interests (rubbing mother's sock and examiner'shand). EEG: normal except for background slowing (administered while awake). Brain imaging: mildly enlarged ventricles on MRI. Other medical concerns & comorbidities: mild constipation. Dysmorphic features: bilateral parietal bossing, bushy eyebrows, thick eyelashes, bilateral epicanthal folds, apparent hypertelorism, posteriorly rotated ears, broad nasal bridge, thin vermillion of upper lip, small separated teeth, two cafe au lait macules on back. Growth parameters: height, 10-25th %ile; weight, 75th %ile; head circumference, 95th %ile. Family history: only child of non-consanguineous parents of Ashkenazi Jewish origin; no family history of intellectual disability, autism/ASD, or other psychiatric illness.
Cognitive Profile:
Global development delay. Performance of Mullen Scales of Early Learning ranged from 6-month-level to 15-month level, depedning on subtest. Adaptive behavior scores (determined by VABS-II) significantly below that of same-aged peers, but consistent with overall level of cognitive functioning.
Brandt T , et al. (2012)Primary Diagnosis: Autism
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 694274
CNV End: 2128124
CNV Size: 1433851
Validation Description: FISH, array SNP (Affymetrix 6.0)
Primary Disorder Inheritence: -
CNV Inheritance: De novo, maternal chromosome
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
beunders_13_DD/ID/ASD_discovery_cases-case40
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: 345925
CNV End: 2086753
CNV Size: 1740829
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_discovery_cases-caseSSC02460
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1365091
CNV End: 1539507
CNV Size: 174417
Validation Description: PCR or SNP data validation
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_discovery_cases-caseSSC07095
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 39255110
CNV End: 39255854
CNV Size: 745
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_replication_cases-case3-0080-000
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 39830068
CNV End: 39832324
CNV Size: 2257
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
bremer_11_ASD_discovery_cases-case36
Clinical Profile:
Non-syndromic ASD, sporadic case
Cognitive Profile:
MR (IQ<70)
Bremer A , et al. (2011)Primary Diagnosis: ASD
Age: 48
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 35350467
CNV End: 35459643
CNV Size: 109177
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
celestino-soper_11_ASD_discovery_cases-11335
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 323573
CNV End: 415644
CNV Size: 92072
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
celestino-soper_11_ASD_discovery_cases-11353
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 389599
CNV End: 2210588
CNV Size: 1820990
Validation Description: Solid phase hybridization (Illumina 1M SNP), qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
celestino-soper_11_ASD_discovery_cases-11399
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1645476
CNV End: 1645849
CNV Size: 374
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
chan_22_ASD_discovery_cases-case3-0251-000
Clinical Profile:
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Language and communication evaluation: difficulties with reciprocal conversations at 4 years 11 months. Dymorphic features: smooth philtrum, thin upper lip, unilateral single palmar crease, 7 x 15 cm hypopigmented macule (left lateral chest). Family history: his father stuttered as a child and left school early to work, and there was a strong family history of learning disabilities on the father's side of the family.
Cognitive Profile:
-
Chan AJS et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36443474
CNV End: 37890379
CNV Size: 1446906
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ACACA, AATF, MRM1, DHRS11, GGNBP2, MYO19, C17orf78, PIGW, YWHAEP7, LHX1, HMGB1P24, MIR2909, TBC1D3JP, MIR378J, LHX1-DT, RNA5SP439, TADA2A, HNF1B, ZNHIT3, SYNRG, DDX52, DUSP14
coe_14_ASD/DD/ID_discovery_cases-case285
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case286
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case287
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case288
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case289
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case290
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case291
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case292
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case293
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case294
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case295
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
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Gene Content: MED1, FBXL20
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Gene Content: SLFN11, SLFN12, SLFN13
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Clinical Profile:
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Clinical Profile:
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Clinical Profile:
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Clinical Profile:
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Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 694641
CNV End: 797033
CNV Size: 102393
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
fan_18_DD/ID_discovery_cases-subject1
Clinical Profile:
Developmental milestones: moderately delayed gross motor skill development, severely delayed fine motor skill development, extremely severe delays in language development and social communication development, severe delays in adaptivity. Language and communication evaluation: absent speech (language ability equivalent to 6 months). Behavioral/psychiatric evaluation: autistic behaviors. Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, high anterior hairline, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: height normal, weight 90th-97th %ile, head circumference +1 SD ~ +2 SD.
Cognitive Profile:
Severe intellectual disability
Fan Y , et al. (2018)Primary Diagnosis: Developmental delay/intellectual disability and autistic features
Age: 4 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 347610
CNV End: 702807
CNV Size: 355198
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
gai_11_ASD_discovery_cases-AU1551302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31436315
CNV End: 31889664
CNV Size: 453350
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: CCL3, CCL4, TBC1D3B, CCL3L3, CCL3L1, CCL4L1, CCL4L2, TBC1D3C, TBC1D3F, CCL3L1, CCL3L3, CCL4L2, CCL4L1, TBC1D3H, TBC1D3C, TBC1D3F, TBC1D3G
gai_11_ASD_discovery_cases-AU1559302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28973892
CNV End: 29973811
CNV Size: 999920
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: ACCN1, CCL2, CCL7, CCL11, CCL8, CCL13, CCL1, C17orf102, TMEM132E
gai_11_ASD_discovery_cases-AU1559303
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28984361
CNV End: 29996842
CNV Size: 1012482
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: ACCN1, CCL2, CCL7, CCL11, CCL8, CCL13, CCL1, C17orf102, TMEM132E
feliciano_19_ASD_discovery_cases-caseSP0001111
Clinical Profile:
Family history: mother presents with anxiety and depression.
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 727716
CNV End: 1983941
CNV Size: 1256226
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LOC102723471, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, ZNHIT3
feliciano_19_ASD_discovery_cases-caseSP0041539
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 721604
CNV End: 1983941
CNV Size: 1262338
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LOC102723471, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, ZNHIT3
girirajan_11_ASD_discovery_cases-Si114
Clinical Profile:
ADOS score: 8. Vineland composite score: 96.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 119; Non-verbal IQ, 119.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 11
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1054952
CNV End: 1204952
CNV Size: 150001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
george_11_DD_discovery_cases-case1
Clinical Profile:
Language and communication evaluation: normal langauge. Behavioral/psychiatric evaluation: attention deficit, hyperactivity, disruptive behavior; normal social reciprocity and mood. Other features: no renal tract abnormalities noted on ultrasound. Growth parameters: weight of 24.5 kg (75th %ile), height of 122 cm (50th %ile), head circumference of 53.5 cm (75th-90th %ile). Family history: younger male sibling with mild developmental delay (mild gross motor delay) and bilateral renal cystic disease (sibling carries 17q12 microdeletion); mother, who was adopted, has learning difficulties, but is able to read and write and has no behavioral issues; father has significant learning difficulties and is unable to read or write, but has no behavioral issues; paternal uncle with low normal intelligence and stuttering; paternal grandmother with learning difficulties.
Cognitive Profile:
Learning difficulties. General cognitive ability within low-average range (19th %ile) as measured by Full-scale IQ (Wechsler Intelligence Scale for Children-4th ed.)
George AM , et al. (2012)Primary Diagnosis: Behavioral problems and learning difficulties
Age: 7 yrs.
Gender: F
Primary Disorder Inheritence: Both parents (learning difficulties)
Family Profile: Multiplex (for neurodevelopmental/neuropsychiatric disorders)
CNV Start: 727982
CNV End: 2128496
CNV Size: 1400515
Validation Description: -
Primary Disorder Inheritence: Both parents (learning difficulties)
CNV Inheritance: Maternal
Family Profile: Multiplex (for neurodevelopmental/neuropsychiatric disorders)
Genome Build: GRCh38
Gene Content: -
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: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si38
Clinical Profile:
ADOS score: 10. Vineland composite score: 70.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 116; Non-verbal IQ, 131.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 15
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si54
Clinical Profile:
ADOS score: NA. Vineland composite score: NA
Cognitive Profile:
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33602613
CNV End: 34690683
CNV Size: 1088071
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
girirajan_11_ASD_discovery_cases-Si54
Clinical Profile:
ADOS score: NA. Vineland composite score: NA
Cognitive Profile:
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33635497
CNV End: 34576480
CNV Size: 940984
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, ASIC2
girirajan_11_ASD_discovery_cases-Si82
Clinical Profile:
ADOS score: 4. Vineland composite score: 81.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 14
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si89
Clinical Profile:
ADOS score: 10. Vineland composite score: 60.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 43; Verbal IQ, 32; Non-verbal IQ, 62.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 17
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1432
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1433
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1434
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1435
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1436
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1437
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1438
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1439
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1440
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1441
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1442
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1443
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1444
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1445
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1446
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1447
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1448
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1449
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1450
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1451
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1452
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1453
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1454
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1455
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1456
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1457
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1458
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1459
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1460
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1461
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1462
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1463
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1464
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1465
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1466
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1467
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1468
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1469
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1470
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1471
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1472
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1473
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1474
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1475
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1476
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1477
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1478
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1479
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1480
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1481
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1482
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1483
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1484
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1485
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1486
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1487
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case24512
Clinical Profile:
Behavioral problems: anxiety. Hypotonia, muscle weakness. Seizures. Nondysmorphic. Growth parameters: normal height and weight, mild macrocephaly. Family history: not specified.
Cognitive Profile:
Moderate-to-severe ID
Girirajan S , et al. (2012)Primary Diagnosis: Intellectual disability
Age: 13 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case27522
Clinical Profile:
Speech delay. Behavioral problems: ADHD, Tourette syndrome. Normal tone. Movement disorder. Nondysmorphic. Other features: osteochondroma on right femur. Growth parameters: height 90th %ile, OFC +1.0 SD. Family history: mother and twin brother with Tourette syndrome; hearing loss in father, post-infection.
Cognitive Profile:
Developmental delay; in special education
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 14 yrs. 8 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex for Tourette syndrome
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex for Tourette syndrome
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case28231
Clinical Profile:
Congenital anomalies: MRKH syndrome, polycystic kidneys. All other measures not specified.
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: MCA
Age: 18 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case31576
Clinical Profile:
Motor delays. Hypotonia, unsteady gait, lack of coordination. Nondysmorphic. Congenital anomalies: cystic kidney disease, vesicoureteral reflux. Other features: vertical nystagmus. Growth parameters: height 30th %ile, OFC +1.0 SD. Family history: healthy parents.
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 26 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case52609
Clinical Profile:
Cystic kidneys, absent bladder and small stomach; patient deceased
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: MCA
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-11002.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1983969
CNV End: 2142084
CNV Size: 158116
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-11234.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1365094
CNV End: 1537715
CNV Size: 172622
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-11353.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-12242.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33638868
CNV End: 34638868
CNV Size: 1000001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
girirajan_13a_ASD_discovery_cases-13085.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase371
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase372
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase373
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase374
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase375
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase376
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase377
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase378
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase379
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase380
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase381
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase382
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase383
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase384
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-20008109910
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 322875
CNV End: 389261
CNV Size: 66387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-21907108174
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-23204100689
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-25807108397
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 325376
CNV End: 389261
CNV Size: 63886
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-28208110205
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-29905103852
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 316263
CNV End: 389261
CNV Size: 72999
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-29908110268
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 322875
CNV End: 389261
CNV Size: 66387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-38806106786
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1358130
CNV End: 1424429
CNV Size: 66300
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-47306107043
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-5603100206
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-8203100466
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1344292
CNV End: 1432729
CNV Size: 88438
Validation Description: aCGH (Agilent hotspot 2x400K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-909110667
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-9605102926
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 325376
CNV End: 387331
CNV Size: 61956
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-9908109393
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 322875
CNV End: 389261
CNV Size: 66387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
guo_18_ASD/DD/ID_discovery_cases-caseBK-316-03
Primary Diagnosis: ASD and ADHD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 36322801
CNV End: 37914800
CNV Size: 1592000
Validation Description: aCGH, Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TBC1D3G, TBC1D3H, RNU6-1192P, RNA5SP439, DHRS11, LHX1, MIR2909, HMGB1P24, MIR378J, RNU6-489P, TBC1D3J, ZNHIT3, MYO19, PIGW, MRM1, LHX1-DT, C17orf78, TADA2A, DUSP14, SYNRG, HNF1B, TBC1D3F, GGNBP2, AATF, ACACA, DDX52, YWHAEP7
iourov_12_ASD/ID/EP_discovery_cases-case20
Clinical Profile:
Syndactyly, facial dysmorphisms
Cognitive Profile:
Mild developmental delay and cognitive delay
Iourov IY , et al. (2013)Primary Diagnosis: Developmental delay
Age: 2 yrs. 4 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 194822
CNV End: 261110
CNV Size: 66289
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000028
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000740
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 357933
CNV End: 2127983
CNV Size: 1770051
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000783
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000912
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000973
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001033
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001063
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001192
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001230
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001653
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 728878
CNV End: 2142084
CNV Size: 1413207
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002203
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 39365569
CNV End: 39612092
CNV Size: 246524
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-233P, NEUROD2, MED1, CDK12, FBXL20
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002565
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 267696
CNV End: 2088293
CNV Size: 1820598
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002673
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694274
CNV End: 2088293
CNV Size: 1394020
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002712
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33642695
CNV End: 34549211
CNV Size: 906517
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, LINC01989, CCL13, ASIC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003791
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 357933
CNV End: 2127983
CNV Size: 1770051
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003904
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003922
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33715517
CNV End: 34301601
CNV Size: 586085
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, LINC01989, ASIC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003953
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2142084
CNV Size: 1447922
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004070
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004094
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 35360337
CNV End: 35411448
CNV Size: 51112
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004137
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 696512
CNV End: 2052828
CNV Size: 1356317
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004138
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 778891
CNV End: 2103254
CNV Size: 1324364
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004188
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 357933
CNV End: 2052828
CNV Size: 1694896
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004238
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004279
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004355
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1837826
CNV End: 2103254
CNV Size: 265429
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004410
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 696512
CNV End: 2047169
CNV Size: 1350658
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004466
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 218526
CNV End: 2142084
CNV Size: 1923559
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004512
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 778891
CNV End: 2103254
CNV Size: 1324364
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004671
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 734919
CNV End: 2128124
CNV Size: 1393206
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004718
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004777
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 730597
CNV End: 2052828
CNV Size: 1322232
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004800
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004828
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 734919
CNV End: 2128124
CNV Size: 1393206
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004936
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004961
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 218526
CNV End: 2142084
CNV Size: 1923559
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005072
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005089
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 357933
CNV End: 2052828
CNV Size: 1694896
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005119
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005170
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005213
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33670906
CNV End: 34596087
CNV Size: 925182
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005227
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 778891
CNV End: 2056793
CNV Size: 1277903
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005255
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 734919
CNV End: 2128124
CNV Size: 1393206
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005297
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005316
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kanduri_15_ASD_discovery_cases-case1831
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 34815551
CNV End: 36244358
CNV Size: 1428808
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3
kanduri_15_ASD_discovery_cases-case1890
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 36194230
CNV End: 36223325
CNV Size: 29096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: LOC284100 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_cases-case1966
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 34453522
CNV End: 34466631
CNV Size: 13110
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: Intergenic CNV: nearest genes, CCL4(dist=20508),TBC1D3B(dist=26430)
krumm_13_ASD_discovery_cases-case11196.p1
Clinical Profile:
ASD proband from SSC quad family 11196. SRS score of 80.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 112.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_13_ASD_discovery_cases-case11353.p1
Clinical Profile:
ASD proband from SSC quad family 11353. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 79.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 772005
CNV End: 1983940
CNV Size: 1211936
Validation Description: Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_13_ASD_discovery_cases-case11459.p1
Clinical Profile:
ASD proband from SSC quad family 11459. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 80.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35855062
CNV End: 35856805
CNV Size: 1744
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: HEATR9, TAF15
kanduri_15_ASD_discovery_cases-case3063
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 34815551
CNV End: 36244358
CNV Size: 1428808
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3
krumm_15_ASD_discovery_cases-case11196.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_cases-case11234.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1365355
CNV End: 1519371
CNV Size: 154017
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case11459.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35855062
CNV End: 35856224
CNV Size: 1163
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: HEATR9, TAF15
krumm_15_ASD_discovery_cases-case12057.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35265071
CNV End: 35442286
CNV Size: 177216
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13, SLFN5
krumm_15_ASD_discovery_cases-case12334.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35878527
CNV End: 35880305
CNV Size: 1779
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case12803.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35116858
CNV End: 35121902
CNV Size: 5045
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RAD51L3-RFFL, RAD51D, FNDC8
krumm_15_ASD_discovery_cases-case12950.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 39160590
CNV End: 39165139
CNV Size: 4550
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case13006.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_cases-case13085.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 721603
CNV End: 1983940
CNV Size: 1262338
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case13620.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35258690
CNV End: 35265888
CNV Size: 7199
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case13962.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 153781
CNV End: 305929
CNV Size: 152149
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case14098.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 159135
CNV End: 252462
CNV Size: 93328
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case14229.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_cases-case14303.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_cases-case14477.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
kushima_18_ASD_discovery_cases-caseASD0470
Clinical Profile:
Developmental milestones: motor delay. Behavioral/psychiatric evaluation: sensory hypersensitivity (tactile hypersensitivity), trichotillomania. Congenital and developmental phenotypes: low birth weight. Family history: negative.
Cognitive Profile:
Mild intellectual disability
Kushima I , et al. (2018)Primary Diagnosis: ASD, ID
Age: 9 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 36446252
CNV End: 37887875
CNV Size: 1441624
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNA5SP439, DHRS11, LHX1, MIR2909, HMGB1P24, MIR378J, TBC1D3J, ZNHIT3, MYO19, PIGW, MRM1, LHX1-DT, C17orf78, TADA2A, DUSP14, SYNRG, HNF1B, GGNBP2, AATF, ACACA, DDX52, YWHAEP7
kushima_18_ASD_discovery_cases-caseASD0975
Clinical Profile:
Developmental milestones: language delay, motor delay. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: positive for epileptic seizures/epilepsy, myoclonus. Congenital and developmental phenotypes: neonatal asphyxia. Family history: negative.
Cognitive Profile:
Intellectual disability (IQ < 70)
Kushima I , et al. (2018)Primary Diagnosis: ASD, ADHD, ID, epilepsy/seizures
Age: 16 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 36357256
CNV End: 37995300
CNV Size: 1638045
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TBC1D3H, RNU6-1192P, RNA5SP439, DHRS11, LHX1, MIR2909, HMGB1P24, MIR378J, RNU6-489P, TBC1D3J, ZNHIT3, MYO19, PIGW, MRM1, LHX1-DT, C17orf78, TADA2A, DUSP14, SYNRG, HNF1B, TBC1D3K, TBC1D3L, TBC1D3F, GGNBP2, AATF, ACACA, DDX52, YWHAEP7
kushima_18_ASD_discovery_cases-caseASD1095
Clinical Profile:
No additional clinical information reported for this individual. Family history: unknown.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: ASD
Age: 23 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 36143765
CNV End: 37995300
CNV Size: 1851536
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCL3L1, CCL4L2, TBC1D3G, TBC1D3H, RNU6-1192P, RNA5SP439, DHRS11, LHX1, MIR2909, HMGB1P24, MIR378J, RNU6-489P, TBC1D3I, TBC1D3J, ZNHIT3, MYO19, PIGW, MRM1, LHX1-DT, C17orf78, TADA2A, DUSP14, SYNRG, HNF1B, TBC1D3K, TBC1D3L, TBC1D3B, TBC1D3F, GGNBP2, AATF, ACACA, DDX52, YWHAEP7
kushima_18_SCZ_discovery_cases-caseSCZ1975
Clinical Profile:
Behavioral/psychiatric evaluation: onset of schizophrenia at 18 years of age (core symptoms include delusions, hallucinations, negative symptoms). Family history: positive for schizophrenia (SCZ).
Cognitive Profile:
Intellectual disability (IQ < 70)
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia, ID
Age: 27 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Not simplex
CNV Start: 36357256
CNV End: 37995300
CNV Size: 1638045
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: TBC1D3H, RNU6-1192P, RNA5SP439, DHRS11, LHX1, MIR2909, HMGB1P24, MIR378J, RNU6-489P, TBC1D3J, ZNHIT3, MYO19, PIGW, MRM1, LHX1-DT, C17orf78, TADA2A, DUSP14, SYNRG, HNF1B, TBC1D3K, TBC1D3L, TBC1D3F, GGNBP2, AATF, ACACA, DDX52, YWHAEP7
kushima_22_ASD_discovery_cases-caseASD0470
Clinical Profile:
Diagnosis of ASD according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36446251
CNV End: 37887875
CNV Size: 1441625
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: ACACA, AATF, MRM1, DHRS11, GGNBP2, MYO19, C17orf78, PIGW, YWHAEP7, LHX1, HMGB1P24, MIR2909, TBC1D3JP, MIR378J, LHX1-DT, RNA5SP439, TADA2A, HNF1B, ZNHIT3, SYNRG, DDX52, DUSP14
kushima_22_ASD_discovery_cases-caseASD1095
Clinical Profile:
Diagnosis of ASD according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36143764
CNV End: 38174887
CNV Size: 2031124
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ACACA, AATF, MRM1, DHRS11, GGNBP2, MYO19, TBC1D3F, C17orf78, PIGW, YWHAEP7, TBC1D3B, TBC1D3C, NPEPPSP1, CCL3L3, TBC1D3H, LHX1, HMGB1P24, MIR2909, TBC1D3JP, TBC1D3L, TBC1D3D, TBC1D3G, TBC1D3K, MIR378J, TBC1D3E, LHX1-DT, TBC1D3I, RNA5SP439, TADA2A, HNF1B, RNU6-1192P, RNU6-489P, RNA5SP526, ZNHIT3, CCL4L2, SYNRG, DDX52, DUSP14
kushima_22_BPD_discovery_cases-caseBD1687
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36108259
CNV End: 38174887
CNV Size: 2066629
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ACACA, AATF, MRM1, DHRS11, GGNBP2, MYO19, TBC1D3F, C17orf78, PIGW, YWHAEP7, TBC1D3B, TBC1D3C, NPEPPSP1, CCL3L3, TBC1D3H, LHX1, HMGB1P24, MIR2909, TBC1D3JP, TBC1D3L, TBC1D3D, TBC1D3G, TBC1D3K, MIR378J, TBC1D3E, LHX1-DT, TBC1D3I, RNA5SP439, TADA2A, HNF1B, RNU6-1192P, RNU6-489P, RN7SL301P, RNA5SP526, ZNHIT3, CCL4L2, SYNRG, DDX52, DUSP14
kushima_22_SCZ_discovery_cases-caseSCZ1975
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36179276
CNV End: 38174887
CNV Size: 1995612
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: ACACA, AATF, MRM1, DHRS11, GGNBP2, MYO19, TBC1D3F, C17orf78, PIGW, YWHAEP7, TBC1D3C, NPEPPSP1, CCL3L3, TBC1D3H, LHX1, HMGB1P24, MIR2909, TBC1D3JP, TBC1D3L, TBC1D3D, TBC1D3G, TBC1D3K, MIR378J, TBC1D3E, LHX1-DT, TBC1D3I, RNA5SP439, TADA2A, HNF1B, RNU6-1192P, RNU6-489P, RNA5SP526, ZNHIT3, CCL4L2, SYNRG, DDX52, DUSP14
leppa_16_ASD_discovery_cases-AU1559302
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 33632981
CNV End: 34608981
CNV Size: 976001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
leppa_16_ASD_discovery_cases-AU3727303
Clinical Profile:
SRS total score 93
Cognitive Profile:
Raven's non-verbal IQ N/A, PPVT 62
Leppa VM , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 694641
CNV End: 2128865
CNV Size: 1434225
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
leblond_19_ASD_discovery_cases-casePN400128
Clinical Profile:
Diagnosis of Asperger syndrome (ADOS=7).
Cognitive Profile:
-
Leblond CS , et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 721503
CNV End: 2277410
CNV Size: 1555908
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
leite_22_DD/ID_discovery_cases-case058
Primary Diagnosis: Developmental delay
Age: 18 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36589895
CNV End: 36718260
CNV Size: 128366
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MRM1, DHRS11
levy_11_ASD_discovery_cases-11353.p1
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 694163
CNV End: 2100765
CNV Size: 1406603
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
loirat_10_ASD_discovery_cases-patient1
Clinical Profile:
ADI-R evaluation (age of examination, 9.3 yrs.): social interaction score, 27; communication and language score, 14; restricted and repetitive behaviors score, 9; onset before age 3 score, 5. Developmental milestones: lack of contact and stereotyped behavior noted at 3 months; sitting position at 12 months; started to walk at 22 months. Communication developmental age (using Reynell Scale and Early Social Communication Scales): 12 months. Developmental quotient (Brunet-Lezine-R scale): 19. Brain imaging: mild ventricular dilatation. Kidney disease: diagnosed by prenatal ultrasonography; renal ultrasonography revealed cortical hyperechogenicity and cysts, right pyelectasis, and left hypoplasia; moderate renal failure and mild cholestasis. Growth parameters: height, 130 cm (0 SD); weight, 26 kg (0 SD); head circumference, +2 SD.
Cognitive Profile:
Developmental delay/mental retardation.
Loirat C , et al. (2010)Primary Diagnosis: Autism
Age: 9 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31543875
CNV End: 33371626
CNV Size: 1827751
Validation Description: Solid phase hybridization (Illumina HumanCNV370)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: CCL3L1, CCL3L3, CCL4L2, CCL4L1, TBC1D3F, TBC1D3C, TBC1D3H, TBC1D3G, ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B
loirat_10_ASD_discovery_cases-patient2
Clinical Profile:
ADI-R evaluation (age of examination, 2.3 yrs.): social interaction score, 21; communication and language score, 10; restricted and repetitive behaviors score, 6; onset before age 3 score, 5. Developmental milestones: lack of contact and stereotyped behaviors noted at 2 months; sitting position at 10 months; started to walk at 18 months. Communication developmental age (using Reynell Scale and Early Social Communication Scales): 8 months. Developmental quotient (Brunet-Lezine-R scale): 23. Brain imaging: mild ventricular dilatation. Kidney disease: diagnosed by prenatal ultrasonography; renal ultrasonography revealed cortical cysts. Growth parameters: height, 101 cm (+1 SD); weight, 16 kg (+1 SD); head circumference, normal.
Cognitive Profile:
Developmental delay/mental retardation.
Loirat C , et al. (2010)Primary Diagnosis: Autism
Age: 3.5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31889664
CNV End: 33386049
CNV Size: 1496385
Validation Description: Solid phase hybridization (Illumina HumanCNV370)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B
loirat_10_ASD_discovery_cases-patient3
Clinical Profile:
ADI-R evaluation (age of examination, 3.4 yrs.): social interaction score, 26; communication and language score, 13; restricted and repetitive behaviors score, 4; onset before age 3 score, 5. Developmental milestones: lack of contact noted at 6 months; stereotyped behaviors noted at 18 months; sitting position at 9 months; started to walk at 18 months. Communication developmental age (using Reynell Scale and Early Social Communication Scales): 3 months. Developmental quotient (Brunet-Lezine-R scale): 26. Brain imaging: not documented. Kidney disease: diagnosed by prenatal ultrasonography; renal ultrasonography revealed cortical hyperechogenicity. Growth parameters: height, 103 cm (+1 SD); weight, 16 kg (+1 SD); head circumference, normal.
Cognitive Profile:
Developmental delay/mental retardation.
Loirat C , et al. (2010)Primary Diagnosis: Autism
Age: 3.8 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31550027
CNV End: 33399810
CNV Size: 1849783
Validation Description: Solid phase hybridization (Illumina HumanCNV370)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: CCL4L2, CCL4L1, TBC1D3F, TBC1D3C, CCL3L1, CCL3L3, TBC1D3H, TBC1D3G, ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B
li_18_ASD_discovery_cases-case6301
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 134852
CNV End: 255646
CNV Size: 120795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
mahjani_21_ASD_discovery_cases-case169
Clinical Profile:
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
Cognitive Profile:
-
Mahjani B et al. (2021)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36602868
CNV End: 37884738
CNV Size: 1281871
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ACACA, AATF, MRM1, C17orf78, YWHAEP7, LHX1, HMGB1P24, MIR2909, LHX1-DT, MIR378J, HNF1B, TADA2A, DUSP14, SYNRG, DDX52
mahjani_21_ASD_discovery_cases-case170
Clinical Profile:
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
Cognitive Profile:
-
Mahjani B et al. (2021)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36459736
CNV End: 37884738
CNV Size: 1425003
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ACACA, AATF, MRM1, DHRS11, GGNBP2, MYO19, PIGW, C17orf78, YWHAEP7, LHX1, HMGB1P24, MIR2909, LHX1-DT, MIR378J, RNA5SP439, HNF1B, TADA2A, ZNHIT3, DUSP14, SYNRG, DDX52
marshall_08_ASD_discovery_cases-SK0284-003
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 33634168
CNV End: 34609568
CNV Size: 975401
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
morrow_08_ASD_discovery_cases-case1601
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 31463000
CNV End: 31488000
CNV Size: 25000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -
morrow_08_ASD_discovery_cases-case1602
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 31463000
CNV End: 31497000
CNV Size: 33000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -
morrow_08_ASD_discovery_cases-case1604
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 31464000
CNV End: 31497000
CNV Size: 33000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -
morrow_08_ASD_discovery_cases-case6301
Primary Diagnosis: ASD
Age: NA
Gender: -
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 31463000
CNV End: 31497000
CNV Size: 33000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case1
Clinical Profile:
Depression, migraines
Cognitive Profile:
Normal intellect
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: Depression
Age: 19
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case2
Clinical Profile:
Deficits in coordination and motor skills, language impairment, aggression, unusual phobias, hyperactivity, short attention span, extremely selective diet
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: ASD
Age: 4
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case3
Clinical Profile:
Deficits in coordination and motor skills, language impairment, anxiety, occasional unmotivated giggling, extremely selective diet
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: ASD
Age: 7
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case4
Clinical Profile:
Deficits in coordination and motor skills, language impairment, mood changes, OCD
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: ASD
Age: 12
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case5
Clinical Profile:
Anxiety, bipolar disorder
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: Bipolar disorder
Age: 37
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case6
Clinical Profile:
Deficits in coordination and motor skills, language impairment, irritability, response to pain
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: ASD
Age: 1 yr, 9 mo
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case7
Clinical Profile:
Deficits in coordination and motor skills, language impairment
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: Neurocognitive deficits
Age: 1 yr, 10 mo
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case8
Clinical Profile:
Deficits in coordination and motor skills, language impairment, anxiety, self-injurious behaviors, pica, short attention span
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: ASD
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case9
Clinical Profile:
Deficits in coordination and motor skills, anxiety, mood changes
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: ASD
Age: 22
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_replication_cases-case1
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_replication_cases-case2
Primary Diagnosis: ASD/neurocognitive impairment
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_SCZ_replication_cases-case1
Primary Diagnosis: Schizophrenia
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_SCZ_replication_cases-case2
Primary Diagnosis: Schizophrenia
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_SCZ_replication_cases-case3
Primary Diagnosis: Schizophrenia
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_SCZ_replication_cases-case4
Primary Diagnosis: Schizophrenia
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
mulle_13_SCZ_discovery_cases_1-caseAJ_8296_2
Primary Diagnosis: Schizophrenia
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33632376
CNV End: 34611003
CNV Size: 978628
Validation Description: Solid phase hybridization
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
mulle_13_SCZ_discovery_cases_1-caseAJ_8360_1
Primary Diagnosis: Schizophrenia
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33632376
CNV End: 34616612
CNV Size: 984237
Validation Description: Solid phase hybridization
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
nava_13_ASD_discovery_cases-Fam845Proband10017
Clinical Profile:
Developmental milestones: age of walking at 17 months. Language and communication evaluation: normal language. Neurological examination: normal. Epilepsy/seizures: none. Other features: OCD. Dysmorphic features: enophtalmia, anteverted nostrils, bulbous nose. Growth parameters: height +0.5 SD, weight -0.5 SD, head circumference +1.5 SD.
Cognitive Profile:
ID (mild)
Nava C , et al. (2013)Primary Diagnosis: ASD
Age: 16 yrs. 3 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35357016
CNV End: 35433147
CNV Size: 76132
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12
palumbo_14_ID/ADHD_discovery_cases-case1
Clinical Profile:
Birth/neonatal history: born at 41 weeks gestation by C-section following natural conception; no known abnormalities on prenatal ultrasounds; echocardiogram performed at birth revealed transposition of great arteries (surgically treated at 40 days of life). Developmental milestones: normal until age of 14 months; first use of simple words at age of 5 years without further maturation of verbal communication skills. Language and communication evaluation: current vocabulary of a few words; case expressed himself in language characterized by vocalizations with communicative value and ability to answer simple deliveries. Motor and musculoskeletal evaluation: 5th finger clinodactyly; static standing with plantigrade support, evident motor clumsiness during gait; manipulative skills characterized by digitopalmar prehension with greater intentionality to the right; lack of integration into fine motor skills; normal muscle tone and trophism; normal ROT symmetry in all four limbs. Behavioral/psychiatric evaluation: autistic features (repetitive and compulsive-like behaviors), ADHD. Dysmorphic features: right posterior plagiocephaly, facial asymmetry, narrow forehead, hypotelorism, wide and fleshy auricular pavilions, protruding cheekbones, long philtrum, thin upper lip, tuft of hair on neck to left parotid region. Growth parameters: obesity; weight of 62 kg (>97th %ile), height of 152 cm (>75th %ile), and head circumference of 52 cm (<10th %ile) at age of 11 years. Family history: non-consanguineous parents; no family history of intellectual disability, autism, or other psychiatric illness.
Cognitive Profile:
Intellectual disability
Palumbo P , et al. (2014)Primary Diagnosis: Intellectual disability, ADHD, and autistic features
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 695346
CNV End: 2123423
CNV Size: 1428078
Validation Description: Array SNP (Affymetrix CytoScan GD array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo, maternal chromosome
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
pinto_10_ASD_discovery_cases-case1140_3
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: Illumina550
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
pinto_10_ASD_discovery_cases-case5056_4
Clinical Profile:
Below average language (<1%ile), no epilepsy, no dysmorphic features, normal neurological exam
Cognitive Profile:
Severe MR
Pinto D , et al. (2010)Primary Diagnosis: Autism
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 39202429
CNV End: 39322548
CNV Size: 120120
Validation Description: qPCR-Denovo,Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RPL19, STAC2, FBXL20
pinto_10_ASD_discovery_cases-case5227_4
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
pinto_14_ASD_discovery_cases2-case14315_4320
Clinical Profile:
Autism on ADI-R and ADOS, language delay, verbal; normal birth parameters, no dysmorphic features or other congenital malformations, normal neurological exam, normal growth, no epilepsy. Family history: older brother with language and motor delay (not tested for CNV); father with epilepsy; mother with major depression (finished primary school).
Cognitive Profile:
Performance DQ 93, verbal DQ 65, total DQ 84
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 694163
CNV End: 2128871
CNV Size: 1434709
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
pinto_14_ASD_discovery_cases2-case8433_202
Clinical Profile:
Clinical profile: N/A.
Cognitive Profile:
Cognitive profile: N/A.
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 1922718
CNV End: 1944560
CNV Size: 21843
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_cases-case03HI2462A
Clinical Profile:
ASD case from AGRE (AGRE ID AU0866301; NDAR ID NDAR_INVAU741BWY)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 35118499
CNV End: 35121904
CNV Size: 3406
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RAD51L3-RFFL, RAD51D, FNDC8
poultney_13_ASD_discovery_cases-case05HI3791A
Clinical Profile:
ASD case from AGRE (AGRE ID AU0862303; NDAR ID NDAR_INVEE164TJX)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 35353334
CNV End: 35441368
CNV Size: 88035
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
poultney_13_ASD_discovery_cases-case05HI4105A
Clinical Profile:
ASD case from AGRE (AGRE ID AU1559303; NDAR ID NDAR_INVKK674DU9)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 34155976
CNV End: 34579282
CNV Size: 423307
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, ASIC2
prasad_12_ASD_discovery_cases-case115813L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28983763
CNV End: 29960430
CNV Size: 976668
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: Unknown
Gene Content: CCL2, ACCN1, CCL13, CCL7, CCL11, CCL8, C17orf102, CCL1, TMEM132E
prasad_12_ASD_discovery_cases-case165216L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30531498
CNV End: 30544060
CNV Size: 12563
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: AMAC1, UNC45B
prasad_12_ASD_discovery_cases-case47005
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30841967
CNV End: 30867416
CNV Size: 25450
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
prasad_12_ASD_discovery_cases-case47371
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 34611456
CNV End: 34731027
CNV Size: 119572
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: FBXL20, STAC2, RPL19
prasad_12_ASD_discovery_cases-case65690
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 30841967
CNV End: 30867715
CNV Size: 25749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -
prasad_12_ASD_discovery_cases-case75420
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33661405
CNV End: 33745674
CNV Size: 84270
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: GPR179, MRPL45, LOC440434
reinthaler_14_EP_discovery_cases-caseGGRE12
Clinical Profile:
Epilepsy phenotype: rolandic epilepsy.
Cognitive Profile:
-
Reinthaler EM , et al. (2014)Primary Diagnosis: Epilepsy
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694641
CNV End: 2061465
CNV Size: 1366825
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
roberts_14_ASD/ID/ADHD/OCD_discovery_cases-case1
Clinical Profile:
Case originally diagnosed with autism spectrum disorder at age of 10 years (diagnostic tools N/A); follow-up diagnoses of ADHD, OCD, and ASD made by a psychiatrist at age of 15 years (diagnostic tools N/A). Birth/neonatal history: 32-week gestation complicated by preeclampsia and maternal uterien fibroids with delivery by C-section; birth weight of 1134 kg (3rd %ile) and length of 44.45 cm (70th %ile); 8-week NICU stay with no reported respiratory difficulties; released home on apnea monitor for 8 weeks with no reported apnea spells. Developmental milestones: nonverbal until age of 4 years; significant delays in gross and fine motor skills and social skills. Motor and musculoskeletal evaluation: marfanoid habitus, mild pectus deformity, pes cavus, hypermobile small joints, long fingers, mild scoliosis. Behavioral/psychiatric evaluation: behavioral problems including irritability, physical aggression, impulsivity, and tantrums (particularly when routines were disrupted); decreased sensitivity to pain. Epilepsy/seizures: no history of seizures. EEG: normal EEG at age of 15 years. Brain imaging: normal brain CT at age of 15 years with focal ossification noted along dura of the left superior sagittal sinus. Hearing and vision: normal. Cardiac evaluation: yearly echocardiograms due to marfanoid body habitus, early evidence of aortic root enlargement. Additional medical history: previous surgeries include removal of dermoid cyst from bridge of nose (age of 2 years) and partial right medial meniscetomy following meniscus tear; history of mildly elevated glucose levels from age of 12 to 17 years, insulin and hemoglobin AIC levels within normal limits; small but otherwise normal pancreas with mild splenomegaly and 1.3 cm accessory splenule found on abdominal ultrasound; no renal abnormalities. Dysmorphic features: long- and narrow-appearing face, bilateral ptosis, relative hypertelorism, small chin, high narrow palate, widely-spaced nipples. Growth parameters: height of 184 cm (89th %ile), weight of 60.4 kg (34th %ile), and head circumference of 57 cm (75th %ile) at age of 17 years. Family history: parents were 40 years old and mother was gravida 3, para 0 at time of conception; father was clinically unaffected. Additional genetic evaluation: normal karyotype (46, XY); normal Marfan, aneurysm and related disorders DNA panel.
Cognitive Profile:
Intellectual disability; full scale IQ of 66 (Wechsler Intelligence Scale for Children-IV)
Roberts JL , et al. (2014)Primary Diagnosis: ASD, ID, ADHD, and OCD
Age: 17 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (possibly simplex)
CNV Start: 372407
CNV End: 2231205
CNV Size: 1858799
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown (possibly simplex)
Genome Build: GRCh38
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del1.1
Clinical Profile:
Birth/neonatal history: prenatal finding of polyhydramnios; born at gestational age 36+6; birth weight 3065 g (<+1 SD), birth length 50 cm (>+1 SD); neonatally recurrent airway infections. Developmental milestones: normal motor milestones; delayed language development. Behavioral/psychiatric evaluation: fluctuating attention, hyperactivity, and delayed play skills at 17-18 months. Epilepsy/seizures: absence and generalized tonic-clonic seizures at 9 months. Brain imaging: normal CT scan at 10 months. Eye abnormalities: strabismus, hypermetropia (+7/+7). Additional medical history: dysphagia, GERD, premature thelarche, increased estradiol that later normalized. Dysmorphic features: mild hypertelorism, right-sided epicanthus. Growth parameters: failure to thrive, frequent posseting. Family history: mother presents with learning disability (positive for 17q12 deletion).
Cognitive Profile:
Learning disability
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability and seizures
Age: 2 yrs.
Gender: F
Primary Disorder Inheritence: Maternal
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del1.2
Clinical Profile:
Birth/neonatal history: born at term; birth weight of 3600 g (mean), birth length 52 cm (roughly +1 SD). Additional medical history: suspicion of bilateral nephropathy on ultrasound scan at 27 years; bilateral hypoplastic kidneys detected on ultrasound at 32 years; hiatus hernia caused by short esophasgus (surgery at 1.5 months and 3 months); severe preeclampsia in first pregnancy (HELLP) at age of 27 years, birth induced GA 35+4. Growth parameters: weight of 54 kg and height of 169 cm (<+1 SD) at 32 years of age. Family history: child with learning disability and seizures (positive for 17q12 deletion).
Cognitive Profile:
Learning disability
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 32 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del2.1
Clinical Profile:
Birth/neonatal history: pregnancy was terminated at 22+0; weight of 430 g, length of 24.2 cm, OFC of 18.2 cm at time of termination; echogenic kidneys of normal size, one cystic process near the liver, another cystic process close to the left kidney. Kidney abnormalities: post-mortem examination revealed segmentally disorganized corticomedullar differentation, glomerular dysplasia, decreased duct structures, increased interstitial fibrosis, and some moderately dilated ducts. Liver abnormalities: post-mortem examination revealed normal liver parenchyma and enlarged gall bladder. Endocrine abnormalities: post-mortem examination revealed pancreas hypoplasia, missing pancreas tail, increased interstitial fibrosis. Dysmorphic features: post-mortem examination revealed hypertelorism (13 mm between inner canthi); X-ray revealed slight microgenia. Family history: father with learning disability (positive for 17q12 deletion).
Cognitive Profile:
-
Rasmussen M , et al. (2016)Primary Diagnosis: MCA
Age: 22 weeks gestational age
Gender: M
Primary Disorder Inheritence: Paternal
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del2.2
Clinical Profile:
Birth/neonatal history: gestational age 29; birth weight 1100 g (approximately -2 SD). Developmental milestones: delayed motor development; delayed language development requiring speech and language therapy. Brain imaging: normal CT scan at 10 months. Eye abnormalities: strabismus. Additional medical history: ultrasound at 24 years of age detected bilateral hypoplastic kidneys and slightly enlarged liver; elevated liver enzymes. X-ray showed thoracic kyphosis, pectus carinatum, and aniosomeli; left leg was 13 mm longer than right leg. Dysmorphic features: upslanted palpebral fissures. Family history: child positive for 17q12 deletion and presented with multiple congenital anomalies (pregnancy was terminated at 22+0); another
Cognitive Profile:
Learning disability; special education class.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 26 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del2.3
Clinical Profile:
Prenatal findings: echogenic kidneys of normal size with normal corticomedullary differentation. Dysmorphic features: not reported. 17q12 deletion detected by prenatal chromosomal microarray. Family history: father with learning disability (positive for 17q12 deletion).
Cognitive Profile:
-
Rasmussen M , et al. (2016)Primary Diagnosis: Kidney abnormalities
Age: 34 weeks gestational age
Gender: F
Primary Disorder Inheritence: Paternal
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del3.1
Clinical Profile:
Birth/neonatal history: gestational age 41+2; birth weight 3350 g (roughly -1 SD), length of 52 cm (median). Developmental milestones: delayed motor milestones (sitting at 10 months, never crawled, walking at 2.5 years); delayed language development requiring speech and language therapy and training in sign language. Brain imaging: normal MRI scan at 3 years. Eye abnormalities: strabismus. Additional medical history: kidney ultrasound at 7 years detected right partial duplicated collecting system and one simplex cyst in the right kidney; several liver cysts of up to 2 cm at 7 years; decreased bone age; recurrent asthmatic bronchitis. Dysmorphic features: high arched eyebrows. Growth parameters: weight of 13.4 kg (<-2 SD) and height of 98.9 cm (roughly -3 SD) at age of 5.5 years.
Cognitive Profile:
Learning disability; special education class; mild-to-moderate intellectual disability.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del4.1
Clinical Profile:
Birth/neonatal history: prenatal findings include left multicystic kidney and polyhydramnios; gestational age 41+4; birth weight 3650 (median), length of 54 cm (roughly +2 SD). Developmental milestones: delayed motor milestones (walked at 16 months); delayed langauge development requiring speech and language therapy. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: autism spectrum disorder. Brain imaging: normal MRI scan at 9 years. Eye abnormalities: hypermetropia (+5/+3). Additional medical history: ultrasound at 13 years detected left kidney agenesis. Dysmorphic features: none. Growth parameters: weight of 40 kg (<+1 SD) and height of 154 cm (>+1 SD) at 11 years of age.
Cognitive Profile:
Learning disability; attended mainstream school with additional support; mainly problems with reasoning; IQ of 73
Rasmussen M , et al. (2016)Primary Diagnosis: ASD and learning disability
Age: 14 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del5.1
Clinical Profile:
Birth/neonatal history: gestational age 36; birth weight 2485 g (roughly -1 SD), length of 49 cm (<+1 SD), and OFC at 6 months of 44 cm (roughly +2 SD). Developmental milestones: delayed motor development (sitting at 10 months, walking at 16 months); delayed language development requiring speech and language therapy. Brain imaging: normal CT scan at 6 months; MRI scan at 16 months detected benign enlarged subarachnoid space. Dysmorphic features: hypertelorism. Growth parameters: weight of 21.5 kg (>-1 SD), height of 117.5 cm (median), and OFC of 53.6 cm at 6.5 years of age. Family history: sibling with developmental delay, mother with learning disability (both positive for 17q12 deletion).
Cognitive Profile:
Started mainstream school at normal age.
Rasmussen M , et al. (2016)Primary Diagnosis: Developmental delay
Age: 6 yrs.
Gender: F
Primary Disorder Inheritence: Maternal
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del5.2
Clinical Profile:
Birth/neonatal history: gestational age 38+0; birth weight 2550 g (roughly -2 SD), lenght 49 cm (roughly -1 SD). Developmental milestones: normal motor milestones: delayed language development requiring speech and langauge therapy. Dysmorphic features: upslanted palpebral fissures. Family history: sibling with developmental delay, mother with learning disability (both positive for 17q12 deletion).
Cognitive Profile:
Attended mainstream school with no additional support
Rasmussen M , et al. (2016)Primary Diagnosis: Developmental delay
Age: 10 yrs.
Gender: F
Primary Disorder Inheritence: Maternal
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del5.3
Clinical Profile:
Birth/neonatal history: unknown. Developmental milestones: delayed language development requiring speech and langauge therapy. Behavioral/psychiatric evaluation: obsessive-compulsive disorder (OCD). Additional medical history: ultrasound at 34 years showed right-wide kidney hypoplasia. Dysmorphic features: none. Family history: two children with developmental delay (both positive for 17q12 deletion).
Cognitive Profile:
Learning disability; attended mainstream school with additional support; vocation education.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 38 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del6.1
Clinical Profile:
Birth/neonatal history: prenatal findings include IUGR (47%) and oligohydramnios; born gestational age 29+1; birth weight 740 g (<-3 SD). Brain imaging: ultrasound at age of 2 days was normal. Kidney abnormalities: ultrasound at 2 weeks showed bilateral polycystic kidneys. Growth parameters: weight of 1089 g (<-3 SD) at 1 month of age. Family history: mother with learning disability (positive for 17q12 deletion).
Cognitive Profile:
-
Rasmussen M , et al. (2016)Primary Diagnosis: Kidney abnormalities
Age: 1 mo.
Gender: M
Primary Disorder Inheritence: Maternal
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-del6.2
Clinical Profile:
Birth/neonatal history: born by C-section due to abnormal presentation at gestational age 40 weeks; birth weight 3400 g (>-1 SD), birth length 49 cm (<-1 SD). Developmental milestones: normal motor development (sat at 6 months, walked at 14 months), normal language development. Additional medical history: fluctuating liver enzymes and Type 2 diabetes at 27 years of age. Growth parameters: weight of 101 kg and hieght of 160 cm at age of 30 years. Family history: child with kidney abnormalities (positive for 17q12 deletion).
Cognitive Profile:
Learning disability; attended mainstream school with two years with additional support due to dyslexia
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 30 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup1.1
Clinical Profile:
Birth/neonatal history: prenatal findings include polyhydramnios and esophageal atresia; gestational age 34+0; birth weight of 1940 g (roughly -2 SD), birth length 47 cm (roughly +1 SD); OFC 33 cm (< M). Developmental milestones: delayed motor milestones (crawling at 1 year). Additional medical history: surgery for long gap esophagus atresia at 5 months; dilatation of esophageal stenosis at 9 months. Dysmorphic features: none. Growth parameters: weight of 7800 g (roughly -2 SD), height of 68 cm (roughly -2 SD), and OFC of 43 cm (<-2 SD) at 9 months. Family history: 17q12 duplication inherited from unaffected mother.
Cognitive Profile:
-
Rasmussen M , et al. (2016)Primary Diagnosis: Developmental delay
Age: 9 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup1.2
Clinical Profile:
Birth/neonatal history: unknown. Developmental milestones: normal language development. No reported neurological/psychiatric problems or comorbidities.
Cognitive Profile:
-
Rasmussen M , et al. (2016)Primary Diagnosis: Unaffected
Age: 22 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup10.1
Clinical Profile:
Birth/neonatal history: gestational age 39+0; birth weight 3000g (roughly -1 SD), length 50 cm (roughly M). Developmental milestones: delayed motor milestones; delayed language development requiring speech and language therapy. Behavioral/psychiatric evaluation: Tourette syndrome requiring medication. Brain imaging: normal CT at 5 years. Dysmorphic features: none. Growth parameters: overweight with height of 158 cm (<-3 SD) at 19 years.
Cognitive Profile:
Learning disability; IQ 52; enrolled in special education class.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability and Tourette syndrome
Age: 19 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup11.1
Clinical Profile:
Birth/neonatal history: prenatal findings of polyhydramnios and suspicion of duodenal atresia; gestational age 34+2; birth weight 1845 (<-1 SD), length 44 cm (roughly -1 SD), OFC 31 cm (roughly M); surgery for duodenal atresia at 1 day. Developmental milestones: unknown. Additional medical history: bilateral echogenic kidneys detected on ultrasound at 2.5 weeks; normal kidney function. Eye abnormalities: strabismus.Growth parameters: weight of 2550g (<-3 SD) ar 5 weeks 4 days. Family history: unaffected mother positive for 17q12 duplication.
Cognitive Profile:
-
Rasmussen M , et al. (2016)Primary Diagnosis: Kidney abnormalities
Age: 2 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup11.2
Clinical Profile:
Birth/neonatal history: gestational age and birth parameters unknown. Developmental milestones: normal motor milestones; normal language development. No neurologic/psychiatric problems, dysmorphic features, or additional comorbid features. Growth parameters: unknown.
Cognitive Profile:
No learning disability; university student.
Rasmussen M , et al. (2016)Primary Diagnosis: Unaffected
Age: 27 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup12.1
Clinical Profile:
Birth/neonatal history: gestational age 41+1; birth weight 4460 g (roughly +2 SD), length 56 cm (roughly +3 SD), OFC 37 cm (roughly +2 SD). Developmental milestones: normal motor milestones (sitting at 6 months, crawling at 5 months); normal language development thus far. Behavioral/psychiatric evaluation: hyperactivity. Epilepsy/seizures: complex partial epilepsy with secondary generalization from age of 2 months. Brain imaging: normal CT at 10 months, normal MRI at 1 year. Additional medical history: kidney ultrasound at 1 year showed right duplex collecting system; dysphagia. Dysmorphic features: bilateral epicanthus. Growth parameters: weight of 10.2 kg (roughly M), height of 79 cm (roughly +2 SD), and OFC of 46 cm (roughly M) at 1 year.
Cognitive Profile:
-
Rasmussen M , et al. (2016)Primary Diagnosis: Epilepsy
Age: 1 yr.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup13.1
Clinical Profile:
Birth/neonatal history: gestational age 38; birth weight 3200 g (roughly -1 SD), length 52 cm (roughly M). Developmental milestones: delayed motor milestones (crawling at 1 year, walking at 2 years); delayed language development (stutter). Motor and musculoskeletal evaluation: hypermobility. Behavioral/psychiatric evaluation: infantile autism. Brain imaging: normal MRI at 2 years. Eye abnormalities: strabismus, astigmatism. Additional medical history: diabetes insipidus at 1 year 9 months; recurrent otisis media. Dysmorphic features: rounded face, full cheeks. Growth parameters: weight of 49 kg (>+1 SD) and height of 143 cm (<-1 SD) at 12 years. Family history: 17q12 duplication inherited from unaffected father.
Cognitive Profile:
Learning disability; attended mainstream school with additional support
Rasmussen M , et al. (2016)Primary Diagnosis: ASD and learning disability
Age: 12 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup13.2
Clinical Profile:
Birth/neonatal history: gestational age and birth parameters unknown. Developmental milestones: normal language developmental. Motor and musculoskeletal evaluation: hypermobility. Dysmorpic features: none. Growth parameters: unknown.
Cognitive Profile:
No learning disability; attended mainstream school, vocational education, and short academic continuing training.
Rasmussen M , et al. (2016)Primary Diagnosis: Unaffected
Age: 44 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup2.1
Clinical Profile:
Birth/neonatal history: birth weight 3150 g (<-1 SD), birth length 49 cm (roughly -2 SD). Developmental milestones: delayed motor development (physiotherapy provided to stimulate motor development; walking at 23 months); delayed langauge development (trained in sign language, music therapy provided). Brain imaging: frontal corpus callosum thinning detected on brain MRI at 4 months. Eye abnormalities: hypermetropia, strabismus. Additional medical history: obstipation. Dysmorphic features: bilateral ptosis, frontal upsweep/cowlick. Growth parameters: weight of 20 kg (roughly M) and height of 113 cm (roughly -1 SD) at 6 years.
Cognitive Profile:
Learning disability; enrolled in special education class.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 6 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup3.1
Clinical Profile:
Birth/neonatal history: gestational age 42+0; normal Apgar scores; birth weight 4100 g (roughly +1 SD), birth length 52 cm (roughly +1 SD); OFC 37 cm (roughly +2 SD). Developmental milestones: delayed motor development (sitting at 9.5 months, crawling at 11.5 months, walking at 15 months); delayed language development requiring speech and language therapy. Motor and musculoskeletal evaluation: hypermobility. Epilepsy/seizures: febrile seizures with Todd's paralysis at 2-3 years; juvenile myoclonic epilepsy at 5 years. Brain imaging: normal MRI scan at 6.5 years. Dysmorphic features: none. Growth parameters: 30.9 kg (<-3 SD) and height of 146.5 cm (>-1 SD) at 12 years.
Cognitive Profile:
Learning disability; attended mainstream school with additional support
Rasmussen M , et al. (2016)Primary Diagnosis: Epilepsy and learning disability
Age: 12 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup4.1
Clinical Profile:
Birth/neonatal history: gestational age 38+4; birth weight 3230 g (median), birth length 51 cm (roughly +1 SD); OFC at 10 days of 35 cm (roughly M). Developmental milestones: delayed motor development (sitting at 1 year, crawling at 15 months, walking at 23 months); normal language development. Motor and musculoskeletal evaluation: hypermobility. Behavioral/psychiatric evaluation: benign paroxysmal torticollis from 4 months to 3 years. Brain imaging: benign enlarged subarachnoid space detected on MRI at 1 year. Dysmorphic features: high prominent forehead. Growth parameters: weight of 8600 g (<+1 SD), height of 73 cm (>+2 SD), and OFC of 45.5 cm (roughly +3 SD) at 7 months. Family history: 17q12 duplication inherited from unaffected mother.
Cognitive Profile:
-
Rasmussen M , et al. (2016)Primary Diagnosis: Developmental delay
Age: 4 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup4.2
Clinical Profile:
Birth/neonatal history: gestational age 40+0. No reported neurological/psychiatric problems or other comorbidities. Family history: child with developmental delay (positive for 17q12 duplication).
Cognitive Profile:
No learning disability; vocational education.
Rasmussen M , et al. (2016)Primary Diagnosis: Unaffected
Age: 34 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup5.1
Clinical Profile:
Birth/neonatal history: gestational age 40+4; birth weight 3232 g (roughly -1 SD), birth length 52 cm (roughly +1 SD); OFC at 18 days of 36 cm (roughly M). Developmental milestones: normal motor development; delayed language development requiring speech and language therapy. Brain imaging: normal MRI at 6.5 years. Eye abnormalities: hypermetropia at 4 years. Dysmorphic features: none. Growth parameters: weight of 19.7 kg (roughly M) and height of 112 cm (roughly -1 SD) at 6 years. Family history: one unaffected sibling and affected mother (learning disability), both positive for 17q12 duplication.
Cognitive Profile:
Learning disability; enrolled in special education class; cognitively 2 years delayed.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 8 yrs.
Gender: F
Primary Disorder Inheritence: Maternal
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup5.2
Clinical Profile:
Birth/neonatal history: gestational age 41+4; birth weight 3700 g (M), birth length 52 cm (roughly +1 SD); OFC at 3 weeks of 37.5 cm (roughly +1 SD). Developmental milestones: normal motor development; normal language development. No dysmorphic features, neurological/psychiatric problems, or additional comorbidities reported. Growth parameters: unknown. Family history: one affected sibling and affected mother, both positive for 17q12 duplication.
Cognitive Profile:
No learning disability; started mainstream school at normal age.
Rasmussen M , et al. (2016)Primary Diagnosis: Unaffected
Age: 5 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup5.3
Clinical Profile:
Birth/neonatal history: birth weight 2700 g (roughly -2 SD), birth length 48 cm (roughly -2 SD). Developmental milestones: normal motor development; normal langauge development. No dysmorphic features, neurological/psychiatric problems, or additional comorbidities reported. Growth parameters: height of 159 cm (roughly -1 SD). Family history: one of two children with learning disability (both children positive for 17q12 duplication).
Cognitive Profile:
Learning disability; attended mainstream school with additional support; vocational student.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 29 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup6.1
Clinical Profile:
Birth/neonatal history: prenatal finding of agenesis of the corpus callosum; gestational age 40+3; birth weight 3730 g (roughly M), birth length 52 cm (roughly +1 SD), OFC 35 cm (>M). Dysmorphic features: none. Growth parameters: weight of 4720 g (roughly +1 SD), height of 54 cm (<+1 SD), and OFC of 36 cm (roughly -1 SD) at 1 month. Family history: one affected sibling, unaffected father (both positive for 17q12 duplication).
Cognitive Profile:
-
Rasmussen M , et al. (2016)Primary Diagnosis: Agenesis of the corpus callosum
Age: 1 mo.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup6.2
Clinical Profile:
Birth/neonatal history: gestational age 42+0; birth weight 3300 g (roughly -1 SD), length 52 cm (roughly +1 SD). Developmental milestones: normal early motor milestones (sitting at 5-6 months, crawling at <12 months, walking at 12 months) with later slightly abnormal development; delayed language development (first words at 2 years, sentences at 3 years). Behavioral/psychiatric evaluation: ADHD, atypical autism. Growth parameters: weight of 28 kg (<+1 SD), height of 135 cm (roughly +1 SD), and OFC of 51 cm at 8 years. Family history: one affected sibling, unaffected father (both positive for 17q12 duplication).
Cognitive Profile:
No learning disability
Rasmussen M , et al. (2016)Primary Diagnosis: ASD and ADHD
Age: 8 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup6.3
Clinical Profile:
Birth/neonatal history: gestational age approximately 40; birth weight 3450 (roughly M), length 53 cm (roughly +1 SD). Developmental milestones: normal motor development; normal language development. Brain imaging: normal MRI at 41 years. Dysmorphic features: unilateral cryptorchidism. Growth parameters: weight of 91 kg, height of 184 cm (roughly +1 SD), and OFC of 56 cm at 41 years. Family history: two affected children (both positive for 17q12 duplication).
Cognitive Profile:
No learning disability; holds academic degree
Rasmussen M , et al. (2016)Primary Diagnosis: Unaffected
Age: 41 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup7.1
Clinical Profile:
Birth/neonatal history: gestational age 38+0; birth weight 3000 g (roughly M), length 50 cm (<+1 SD). Developmental milestones: normal motor milestones (sitting at 6 months, crawling at 10 months, walking at 11 months); normal language development (stutter; speech and language therapy was not required). Additional medical history: reflux treatment since 2 months. Dysmorphic features: epicanthus. Growth parameters: weight of 15.1 kg (>-1 SD), height of 99.7 cm (>-1 SD), and OFC of 47.1 cm at 3 years 10 months.
Cognitive Profile:
No learning disability; started mainstream school at normal age.
Rasmussen M , et al. (2016)Primary Diagnosis: Stutter
Age: 6 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup7.2
Clinical Profile:
Birth/neonatal history: gestational age 31; birth weight 1300 g (roughly -2 SD). Developmental milestones: normal motor milestones; delayed language developmental requiring speech and language therapy. Growth parameters: height of 161 cm (roughly -1 SD).
Cognitive Profile:
Learning disability; attended mainstream school; severe dyslexia; unskilled job.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 28 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup7.3
Clinical Profile:
Birth/neonatal history: gestational age and birth parameters unknown. Developmental milestones: normal motor milestones; normal language development. Additional medical history: psoriatic arthritis. Growth parameters: unknown.
Cognitive Profile:
Learning disability; attended mainstream school with additional support in math; secretarial work.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 25 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup7.4
Clinical Profile:
Birth/neonatal history: gestational age and birth parameters unknown. Developmental milestones: normal language development. Additional medical history: paroxysmal atrial fibrillation. Growth parameters: unknown.
Cognitive Profile:
No learning disability; self-employed
Rasmussen M , et al. (2016)Primary Diagnosis: Unaffected
Age: 54 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup8.1
Clinical Profile:
Birth/neonatal history: gestational age 40+4; birth weight 3310 g (roughly -1 SD), length 52 cm (roughly M). Developmental milestones: delayed motor milestones (physiotherapy provided to stimulate motor development); delayed language development. Motor and musculoskeletal evaluation: pes planus. Growth parameters: weight of 32.6 kg (>-1 SD), height of 146 cm (roughly M), and OFC of 52.5 cm at 11 years. Family history: mother with learning disability (positive for 17q12 duplication).
Cognitive Profile:
Learning disability; enrolled in special education class.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 14 yrs.
Gender: M
Primary Disorder Inheritence: Maternal
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup8.2
Clinical Profile:
Birth/neonatal history: gestational age and birth parameters unknown. Developmental milestones: unknown. Family history: child with learning disability (positive for 17q12 duplication).
Cognitive Profile:
Learning disability; dyslexia; unskilled job.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 40 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup9.1
Clinical Profile:
Birth/neonatal history: gestational age 41+0; birth weight 3150 (<-1 SD), length 51 cm (roughly M). Developmental milestones: delayed motor milestones (sitting at 13 months, crawling at 1 year, walking at 2-3 years); delayed language development requiring speech and language therapy. Behavioral/psychiatric evaluation: angry outbirsts. Brain imaging: normal MRI at 4 years. Growth parameters: weight of 33 kg (roughly M) and height of 154 cm (>+2 SD) at 11 years. Family history: 17q12 duplication inherited from unaffected father.
Cognitive Profile:
Learning disability; enrolled in special education class; delayed three years.
Rasmussen M , et al. (2016)Primary Diagnosis: Learning disability
Age: 11 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
rasmussen_16_17q12CNV_discovery_cases-dup9.2
Clinical Profile:
Birth/neonatal history: gestational age and birth parameters unknown. Developmental milestones: unknown. No neurological/psychiatric problems and other comorbidities. Growth parameters: unknown.
Cognitive Profile:
Manual work
Rasmussen M , et al. (2016)Primary Diagnosis: Unaffected
Age: 34 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: N/A
CNV End: N/A
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
quintela_17_DD/ID_discovery_cases-caseID_265
Clinical Profile:
Additional clinical information N/A
Cognitive Profile:
Intellectual disability
Quintela I , et al. (2017)Primary Diagnosis: Intellectual disability
Age: 12 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 347610
CNV End: 2179695
CNV Size: 1832086
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: -
Genome Build: GRCh38
Gene Content: -
rosenfeld_10_ASD_discovery_cases-case24799
Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 32117729
CNV End: 33246206
CNV Size: 1128477
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: LHX1, AATF, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B
sajan_13_ACC/CBLH/PMG_discovery_cases-case1199-0
Clinical Profile:
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Cognitive Profile:
Developmental delay: yes. Intellectual disability: yes.
Sajan SA , et al. (2013)Primary Diagnosis: ACC
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 35357016
CNV End: 35433147
CNV Size: 76132
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12
sajan_13_ACC/CBLH/PMG_discovery_cases-case1310-0
Clinical Profile:
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Cognitive Profile:
Developmental delay: yes. Intellectual disability: yes.
Sajan SA , et al. (2013)Primary Diagnosis: ACC
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694641
CNV End: 2142084
CNV Size: 1447444
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
sajan_13_ACC/CBLH/PMG_discovery_cases-case1400-0
Clinical Profile:
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
Cognitive Profile:
Developmental delay: yes. Intellectual disability: no.
Sajan SA , et al. (2013)Primary Diagnosis: ACC
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
sanders_11_ASD_discovery_cases-11117.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 121; non-verbal IQ, 119; verbal IQ, 119
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 1077000
CNV End: 1129371
CNV Size: 52372
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11196.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 35357016
CNV End: 35442864
CNV Size: 85849
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
sanders_11_ASD_discovery_cases-11234.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 115
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 1368427
CNV End: 1523141
CNV Size: 154715
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11353.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 79; non-verbal IQ, 77; verbal IQ, 64
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 600374
CNV End: 2142084
CNV Size: 1541711
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11509.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 16.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 1631117
CNV End: 1637713
CNV Size: 6597
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11733.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 35817456
CNV End: 35846704
CNV Size: 29249
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12057.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 29
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
sanders_11_ASD_discovery_cases-12173.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 1019504
CNV End: 1024699
CNV Size: 5196
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12334.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 35873887
CNV End: 35880776
CNV Size: 6890
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12449.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 87; non-verbal IQ, 87; verbal IQ, 93
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 35373559
CNV End: 35377917
CNV Size: 4359
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12817.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
sanders_11_ASD_discovery_cases-13006.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 56; non-verbal IQ, 56; verbal IQ, 57
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 35357016
CNV End: 35439928
CNV Size: 82913
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
sanders_11_ASD_discovery_cases-13036.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 35904812
CNV End: 35909166
CNV Size: 4355
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13085.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 82; non-verbal IQ, 78; verbal IQ, 95
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 14.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 694641
CNV End: 2142084
CNV Size: 1447444
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sansovic_17_DD/ID/ASD_discovery_cases-case27
Clinical Profile:
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
Cognitive Profile:
-
Sansovi I , et al. (2017)Primary Diagnosis: Developmental delay/intellectual disability
Age: 3 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
sansovic_17_DD/ID/ASD_discovery_cases-case70
Clinical Profile:
Developmental delay/intellectual disability, Congenital anomalies
Cognitive Profile:
-
Sansovi I , et al. (2017)Primary Diagnosis: Developmental delay/intellectual disability
Age: 2 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
shen_10_ASD_discovery_cases-ASD-09-073
Primary Diagnosis: PDD-NOS
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 694274
CNV End: 2127983
CNV Size: 1433710
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
soorya_13_ASD/ID_discovery_cases-SH32
Clinical Profile:
Case identified with de novo nonsense variant (c.1527G>A; p.W509X) in SHANK3 gene. DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 23; B (communication), 13; C (RRBIS), 6. ADOS-G Module 1 scores: communication total, 6; social total, 12; communication + social, 18; RRBI, 5; severity score, 8. VABS-II scores: ABC, 45; communication, 42; socialization, 49; daily living, 38; motor, 59. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hyperactivity. Dysmorphic features: long eyelashes, ear anomalies, full lips, epicanthal folds, macrocephaly, wide nasal bridge, hypertelorism.
Cognitive Profile:
Profound ID; non-verbal IQ 16.36
Soorya L , et al. (2013)Primary Diagnosis: Autism and intellectual disability
Age: 7.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 694274
CNV End: 2128124
CNV Size: 1433851
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
soueid_16_ASD_discovery_cases-caseBAK41
Clinical Profile:
Case fulfilled DSM-V criteria for autism; no other information available
Cognitive Profile:
-
Soueid J , et al. (2016)Primary Diagnosis: Autism
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2162871
CNV End: 2283201
CNV Size: 120331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
tammimies_15_ASD_discovery_cases-case3-0251-000
Clinical Profile:
Dysmorphic features: smooth philtrum, unilateral single palmar crease, large hypopigmented macule.
Cognitive Profile:
-
Tammimies K , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 344656
CNV End: 2123423
CNV Size: 1778768
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
vaags_11_ASD_discovery_cases-probandF1-003
Clinical Profile:
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Cognitive Profile:
Leiter-R IQ: 119 (92nd %ile)
Vaags AK , et al. (2012)Primary Diagnosis: Asperger syndrome
Age: 16 yrs. 7 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 347506
CNV End: 415644
CNV Size: 68139
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
tzetis_12_DD/ID_discovery_cases-case43
Clinical Profile:
Macrocephaly, hypertelorism, epicanthus, micrognathia, dental anomalies, hypotonia, corpus callosum dysgenesis
Cognitive Profile:
-
Tzetis M , et al. (2012)Primary Diagnosis: DD/ID
Age: -
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 829075
CNV End: 1926131
CNV Size: 1097057
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
tzetis_12_DD/ID_discovery_cases-case44
Clinical Profile:
Renal cysts, dislipidemia, liver copper deposition, liver fibrosis, cholestasis
Cognitive Profile:
-
Tzetis M , et al. (2012)Primary Diagnosis: DD/ID
Age: -
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 357933
CNV End: 2636085
CNV Size: 2278153
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
wang_10_ASD_discovery_cases-AC0100
Primary Diagnosis: ASD
Age: 13
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 33629523
CNV End: 34608994
CNV Size: 979472
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
vaags_11_ASD_replication_cases_2-probandF4-003
Clinical Profile:
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Cognitive Profile:
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
Vaags AK , et al. (2012)Primary Diagnosis: Autism
Age: 3 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 144443
CNV End: 177394
CNV Size: 32952
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
verberne_22_ASD/DD/ID_discovery_cases-case104
Clinical Profile:
Short stature, failure to thrive, Dandy-Walker malformation, patent foramen ovale
Cognitive Profile:
-
Verberne EA et al. (2022)Primary Diagnosis: -
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36459736
CNV End: 38294634
CNV Size: 1834899
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: ACACA, AATF, MRM1, DHRS11, GGNBP2, MYO19, C17orf78, PIGW, YWHAEP7, TBC1D3C, NPEPPSP1, TBC1D3, LHX1, HMGB1P24, MIR2909, TBC1D3L, TBC1D3D, TBC1D3K, MIR378J, TBC1D3E, LHX1-DT, RNA5SP439, TADA2A, HNF1B, RNU6-489P, RNA5SP526, ZNHIT3, SYNRG, DDX52, DUSP14
wenger_16_ASD_discovery_cases-case37
Clinical Profile:
Prior clinical diagnosis of genetic syndrome: n/a
Cognitive Profile:
-
Wenger TL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 39678288
CNV End: 39766006
CNV Size: 87719
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR4728, MIEN1, GRB7, PGAP3, ERBB2, IKZF3
wenger_16_ASD_discovery_cases-case47
Clinical Profile:
Prior clinical diagnosis of genetic syndrome: n/a
Cognitive Profile:
-
Wenger TL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33897472
CNV End: 33923088
CNV Size: 25617
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
wang_20_ID_discovery_cases-case9
Clinical Profile:
Asophia and brain dysplasia
Cognitive Profile:
Intellectual disability
Wang J et al. (2020)Primary Diagnosis: Intellectual disability
Age: 4 yrs. 7 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 36562642
CNV End: 38252846
CNV Size: 1690205
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DHRS11, LHX1, MIR2909, HMGB1P24, MIR378J, RNU6-489P, TBC1D3E, RNA5SP526, MRM1, LHX1-DT, C17orf78, TADA2A, DUSP14, SYNRG, HNF1B, TBC1D3K, TBC1D3L, TBC1D3C, TBC1D3, NPEPPSP1, GGNBP2, AATF, ACACA, DDX52, YWHAEP7, TBC1D3D
yin_16_ASD_discovery_cases-case517
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 35357088
CNV End: 35439187
CNV Size: 82100
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
yin_16_ASD_discovery_cases-case518
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 39832784
CNV End: 39885509
CNV Size: 52726
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: KRT8P34, ZPBP2, IKZF3
yuen_17_ASD_discovery_cases-case7-0146-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 694163
CNV End: 2286065
CNV Size: 1591903
Validation Description: Affymetrix CytoScanHD
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
yuen_17_ASD_discovery_cases-caseAU3727303
Clinical Profile:
Case cohort: AGRE. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 694163
CNV End: 2285565
CNV Size: 1591403
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Putative De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
yuen_17_ASD_discovery_cases-caseAU4331304
Clinical Profile:
Case cohort: AGRE. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 694163
CNV End: 2286065
CNV Size: 1591903
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
yuen_17_ASD_discovery_cases-caseAU4440301
Clinical Profile:
Case cohort: AGRE. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 694163
CNV End: 2164065
CNV Size: 1469903
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
No control populations reported.
coe_14_ASD/DD/ID_discovery_controls-control39
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_controls-control40
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_controls-control41
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_controls-control42
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_controls-control43
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-control110036001873_
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-control110036011856_
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-control110036023653_
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlB435341_1007840517
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlB511124_1007875799
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35350476
CNV End: 35439928
CNV Size: 89453
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlB598149_1007874481
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2018452
CNV End: 2128871
CNV Size: 110420
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlB599687_1007875248
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35442187
CNV Size: 85172
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlB700071_1007874656
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35439928
CNV Size: 82913
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlB792009_1007845902
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlB927839_1007872300
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35439928
CNV Size: 82913
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlB972203_1007842429
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_900075_900075
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35445533
CNV Size: 88518
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_900111_900111
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_900163_900163
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_900210_900210
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2329339
CNV End: 2388969
CNV Size: 59631
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_900297_900297
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_900364_900364
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_900531_900531
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_900534_900534
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_901207_901207
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_901233_901233
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35445533
CNV Size: 88518
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_902527_902527
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_902592_902592
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_902616_902616
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33859030
CNV End: 35726880
CNV Size: 1867851
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, RNU6-840P, NLE1, E2F3P1, TOMM20P2, SNORD7, PEX12, LINC01989, CCL13, CCT6B, ZNF830, RFFL, RAD51L3-RFFL, RAD51D, UNC45B, SLC35G3, SLFN11, SLFN12, SLFN13, SLFN14, LINC02001, LIG3, FNDC8, SLFN5, SLFN12L, TAF15, TMEM132E, AP2B1, ASIC2
engchuan_15_ASD_discovery_controls-controlHABC_902782_902782
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_controls-controlHABC_902892_902892
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 39258998
CNV End: 39397838
CNV Size: 138841
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_903010_902736
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
girirajan_12_ASD/DD/ID_discovery_controls-control104
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_controls-control105
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_controls-control106
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_controls-control107
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_controls-control108
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_controls3-control26
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_controls3-control27
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-10809111031
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1349061
CNV End: 1424429
CNV Size: 75369
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-12306105910
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 322875
CNV End: 389261
CNV Size: 66387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-25208110101
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1349393
CNV End: 1424302
CNV Size: 74910
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-27706106372
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-29509111585
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_controls-control0057
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 735120
CNV End: 2127983
CNV Size: 1392864
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_controls-control0058
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 735120
CNV End: 2127983
CNV Size: 1392864
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_controls-control0059
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 735120
CNV End: 2127983
CNV Size: 1392864
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_controls-control0060
Clinical Profile:
Clinical profile NA (control). Start and end coordinates provided are based on approximate minimum coordinates of recurrent deletion/duplication identified in control (precise start and end coordinates of CNV NA).
Cognitive Profile:
NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 735120
CNV End: 2127983
CNV Size: 1392864
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-30706106486
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-31207108545
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-32607108609
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-3306105584
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-3506105586
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-36607108778
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-45304101644
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-47809111973
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1346456
CNV End: 1428097
CNV Size: 81642
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-48909112443
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-49206107109
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-53306107454
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-56606107560
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 325376
CNV End: 389261
CNV Size: 63886
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-58104101657
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1352939
CNV End: 1417167
CNV Size: 64229
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-62704102317
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-7006105686
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1357404
CNV End: 1417167
CNV Size: 59764
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_controls-7406105704
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1360959
CNV End: 1424429
CNV Size: 63471
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kanduri_15_ASD_discovery_controls-control_split1268
Clinical Profile:
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 37828745
CNV End: 37831035
CNV Size: 2291
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
kanduri_15_ASD_discovery_controls-control_split1268
Clinical Profile:
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 34463323
CNV End: 34466631
CNV Size: 3309
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: Intergenic CNV: nearest genes, CCL4(dist=30309),TBC1D3B(dist=26430)
krumm_13_ASD_discovery_controls-control11459.s1
Clinical Profile:
Unaffected sibling from SSC quad family 11459. SRS score of 42.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35855062
CNV End: 35856805
CNV Size: 1744
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: HEATR9, TAF15
kanduri_15_ASD_discovery_controls-control_split1459
Clinical Profile:
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 37828745
CNV End: 37831035
CNV Size: 2291
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
kanduri_15_ASD_discovery_controls-control_split585
Clinical Profile:
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32332830
CNV End: 32375998
CNV Size: 43169
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
krumm_13_ASD_discovery_controls-control13507.s1
Clinical Profile:
Unaffected sibling from SSC quad family 13507. SRS score of 37.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_controls-control11445.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35353335
CNV End: 35442286
CNV Size: 88952
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_controls-control11459.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35855062
CNV End: 35856224
CNV Size: 1163
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: HEATR9, TAF15
krumm_15_ASD_discovery_controls-control12057.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_controls-control12231.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_controls-control12334.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35878527
CNV End: 35880305
CNV Size: 1779
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_controls-control13006.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_controls-control13507.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35362738
CNV End: 35441366
CNV Size: 78629
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_controls-control13620.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35258690
CNV End: 35265888
CNV Size: 7199
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_controls-control14208.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35353335
CNV End: 35442286
CNV Size: 88952
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_controls-control14229.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35353335
CNV End: 35442286
CNV Size: 88952
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
nord_11_ASD_discovery_controls-04C27574
Primary Diagnosis: Control
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 33955889
CNV End: 33992724
CNV Size: 36836
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: Unknown
Gene Content: -
kushima_18_ASD/SCZ_discovery_controls-controlCON0274
Clinical Profile:
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Control
Age: 22 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36081177
CNV End: 38223576
CNV Size: 2142400
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CCL3, CCL4, CCL3L1, CCL4L2, TBC1D3G, TBC1D3H, RNU6-1192P, RNA5SP439, DHRS11, LHX1, MIR2909, HMGB1P24, MIR378J, RNU6-489P, TBC1D3E, RNA5SP526, RN7SL301P, TBC1D3I, TBC1D3J, ZNHIT3, MYO19, PIGW, MRM1, LHX1-DT, C17orf78, TADA2A, DUSP14, SYNRG, HNF1B, TBC1D3K, TBC1D3L, TBC1D3C, TBC1D3, TBC1D3B, TBC1D3F, GGNBP2, AATF, ACACA, DDX52, YWHAEP7, TBC1D3D
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0274
Clinical Profile:
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 36081176
CNV End: 38218992
CNV Size: 2137817
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ACACA, AATF, MRM1, DHRS11, GGNBP2, MYO19, TBC1D3F, C17orf78, PIGW, YWHAEP7, TBC1D3B, TBC1D3C, NPEPPSP1, CCL3L3, TBC1D3, TBC1D3H, LHX1, HMGB1P24, MIR2909, TBC1D3JP, TBC1D3L, TBC1D3D, TBC1D3G, TBC1D3K, MIR378J, TBC1D3E, LHX1-DT, TBC1D3I, CCL3-AS1, RNA5SP439, TADA2A, CCL3, HNF1B, CCL4, RNU6-1192P, RNU6-489P, RN7SL301P, RNA5SP526, ZNHIT3, CCL4L2, SYNRG, DDX52, DUSP14
sanders_11_ASD_discovery_controls-11117.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 1077000
CNV End: 1128582
CNV Size: 51583
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11445.s1
Primary Diagnosis: Control (matched sibling)
Age: 9.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 35357016
CNV End: 35442187
CNV Size: 85172
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
sanders_11_ASD_discovery_controls-11986.s1
Primary Diagnosis: Control (matched sibling)
Age: 9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 39662988
CNV End: 39683240
CNV Size: 20253
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: PNMT, STARD3, TCAP, PGAP3
sanders_11_ASD_discovery_controls-12057.s1
Primary Diagnosis: Control (matched sibling)
Age: 14.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
sanders_11_ASD_discovery_controls-12231.s1
Primary Diagnosis: Control (matched sibling)
Age: 12.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 35357016
CNV End: 35439928
CNV Size: 82913
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
sanders_11_ASD_discovery_controls-12334.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 35873887
CNV End: 35880776
CNV Size: 6890
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12449.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 35373559
CNV End: 35377917
CNV Size: 4359
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12605.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 1019504
CNV End: 1024699
CNV Size: 5196
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12817.s1
Primary Diagnosis: Control (matched sibling)
Age: 15.7
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
sanders_11_ASD_discovery_controls-13006.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 35357016
CNV End: 35439928
CNV Size: 82913
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
sanders_11_ASD_discovery_controls-13226.s1
Primary Diagnosis: Control (matched sibling)
Age: 10.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 35904812
CNV End: 35909166
CNV Size: 4355
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
soueid_16_ASD_discovery_controls-control11
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2162871
CNV End: 2283201
CNV Size: 120331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: -
Genes associated with 17q12(0 Models)
Sort By:
| CACNB1 | 3 / 3 | Rare Single Gene Mutation |
Score3 |
| GGNBP2 | 3 / 3 | Rare Single Gene Mutation |
Score2 |
| PPP1R1B | 2 / 2 | Rare Single Gene Mutation, Genetic Association |
Score2 |
| SLFN5 | 4 / 4 | Rare Single Gene Mutation |
Score3 |