4q13.2CNV Type: Deletion-Duplication
Largest CNV size: 244371 bp
Statistics Box:
Number of Reports: 30
Number of Reports: 30
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion-Duplication
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Deletion-Duplication
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion-Duplication
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
Duplication
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
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.
99
ASD
87.88% Male
130793
2
1
3
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
108137
1
0
1
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
114395
0
1
1
davis_12_ASD_discovery_cases
Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
1
Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
12 yrs.
Male
131283
1
1
2
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
462609
23
3
26
fan_18_DD/ID_discovery_cases
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
3
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
Range, 4-9 yrs.
33.33% Male
106075
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
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.
136304
54
1
55
girirajan_13b_ASD_discovery_cases
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)
243
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
N/A
N/A
227708
46
0
46
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
3222002
1
1
2
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
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.
N/A
N/A
10253
1
0
1
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
556000
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
130085
27
8
35
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
98514
2
0
2
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
128848
2
0
2
newbury_12_ASD/CAS_discovery_cases
Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
1
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
14 yrs.
Male
108137
1
0
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
121264
1
2
3
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
244371
3
0
3
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
931359
2
3
5
prasad_12_ASD_discovery_cases
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).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
115384
1
0
1
reis_17_ASD/ID_discovery_cases
Two siblings (one male, one female) with syndromic ASD who participated in an ongoing exome research study at the Autism Spectrum Disorder Program Clinic of the Psychiatric Institute of the University of Sao Paulo School of Medicine
2
The male sibling met criteria for a diagnosis of ASD according to DSM-5 criteria (CARS score 33.5), while the female sibling was diagnosed with intellectual disability and syndromic features (CARS score 24.0)
Range, 29-33 yrs.
50% Male
69893
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
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
N/A
N/A
120255
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
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)
Mean, 9.1 yrs.
86.1% Male
117822
2
0
2
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
96564
1
0
1
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
96564
1
0
1
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
108079
4
0
4
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
173000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
speevak_11_DD_discovery_cases
Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay
1
Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.
4.5 yrs.
Male
108100
1
0
1
tabet_12_ASD_discovery_cases
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
3
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Range, 17 yrs. 6 mos.-21 yrs.
100% Male
65649
2
0
2
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
121602
1
1
2
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
116106
1
0
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
128206
5
0
5
yin_16_ASD_discovery_cases
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.
335
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).
Mean, 9.39 4.04 yrs.
89.3% Male
38222
5
0
5
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
430431
21
2
23
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
228790
46
0
46
girirajan_13b_ASD_discovery_controls
Controls 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 (242 initial controls)
223
Control
N/A
N/A
130231
26
1
27
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls 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
N/A
N/A
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
130085
16
6
22
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
270345
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
115384
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
183412
2
1
3
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
173000
0
1
1
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
128206
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
38222
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent 4x180K or 8x60K)
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
None
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
davis_12_ASD_discovery_cases
NA
Solid phase hybridization
Illumina Human 1M-Duo DNA Analysis Bead Chip
PennCNV, QuantiSNP, Gnosis
CNVision
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_18_DD/ID_discovery_cases
Chinese
Array SNP, solid phase hybridization
Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
aCGH (Nimblegen 3x720K or Agilent 2x400K)
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
newbury_12_ASD/CAS_discovery_cases
European (Caucasian)
aCGH
Agilent 244K
Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
None
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
reis_17_ASD/ID_discovery_cases
Brazil
aCGH
Agilent 180K
ADM-2
Agilent Feature Extraction 10.7.3.1
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
speevak_11_DD_discovery_cases
NA
aCGH
CytoChip 105K array
BlueFuse Multi
None
tabet_12_ASD_discovery_cases
Mixed ethnic background (father Caucasian, mother from Mauritius)
Solid phase hybridization
Illumina HumanCNV370-Duo BeadChip
CNVPartition v3.1.1, Penn CNV
BeadStudio v3.2
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
Long-range PCR, qPCR
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
aCGH (Nimblegen 3x720K or Agilent 2x400K)
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11376
NA
M
ASD
NA
NA
68508185
68626088
117904
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11378
NA
M
ASD
NA
NA
68537254
68668047
130794
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11412
NA
M
ASD
NA
NA
68537254
68663658
126405
GRCh38
Deletion
Yes
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
68509422
68617559
108138
GRCh38
Deletion
No
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
68509211
68623605
114395
GRCh38
Duplication
No
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
69264211
69372370
108160
GRCh38
Duplication
No
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
68575796
68707079
131284
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13013_173
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69268622
69372370
103749
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13049_583
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69250370
69428422
178053
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13050_593
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69277074
69368701
91628
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14087_1510
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69264211
69487867
223657
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14186_3050
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65967395
66085217
117823
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14208_3350
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65957011
66085217
128207
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16029_1571001001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67484590
67524123
39534
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18164_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68805584
68842725
37142
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2256_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69266146
69400951
134806
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3015_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69264211
69381445
117235
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3377_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67721316
68183925
462610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3386_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68805584
68842725
37142
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3420_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69268622
69381445
112824
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3481_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68812961
68850227
37267
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3517_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67891311
67951402
60092
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5033_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69290428
69368701
78274
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5039_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65967395
66085217
117823
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5122_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69268622
69372370
103749
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5255_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68805584
68842725
37142
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5307_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69268622
69372370
103749
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5316_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69137075
69381445
244371
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5530_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66497154
66597989
100836
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6014_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67983659
68022133
38475
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6270_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69290428
69368701
78274
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6272_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69264211
69409759
145549
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6384_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
69290428
69368701
78274
GRCh38
Deletion
No
fan_18_DD/ID_discovery_cases-subject1
4 yrs.
M
Developmental delay/intellectual disability and autistic features
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.
Severe intellectual disability
68570170
68676245
106076
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si100
17
M
Autism
ADOS score: 7. Vineland composite score: 83.
Moderate mental retardation/intellectual disability. Full-scale IQ, 43; Verbal IQ, 33; Non-verbal IQ, 63.
69283914
69361452
77539
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si110
6
M
Autism
ADOS score: 6. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 97; Non-verbal IQ, 111.
69252432
69367867
115436
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si118
11
M
Autism
ADOS score: 8. Vineland composite score: 63.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 56; Non-verbal IQ, 76.
69252367
69361452
109086
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si125
10
M
Autism
ADOS score: 8. Vineland composite score: 89.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si127
7
M
Autism
ADOS score: 8. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 77; Non-verbal IQ, 90.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si134
10
M
Autism
ADOS score: 6. Vineland composite score: 71.
Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 49; Non-verbal IQ, 79.
69267671
69360383
92713
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si138
9
M
Autism
ADOS score: 9. Vineland composite score: 69.
Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 59; Non-verbal IQ, 74.
69276973
69360383
83411
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si14
8
M
Autism
ADOS score: 5. Vineland composite score: 60.
Severe mental retardation/intellectual disability. Full-scale IQ, 38; Verbal IQ, 31; Non-verbal IQ, 44.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si142
6
M
Autism
ADOS score: 4. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 117; Non-verbal IQ, 99.
69265414
69360383
94970
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si147
11
M
Autism
ADOS score: 6. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 47; Non-verbal IQ, 60.
69267671
69361452
93782
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si151
8
F
Autism
ADOS score: 7. Vineland composite score: 50.
Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 18; Non-verbal IQ, 42.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si152
12
M
Autism
ADOS score: 9. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 94.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si161
17
F
Autism
ADOS score: 6. Vineland composite score: 61.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 80; Non-verbal IQ, 74.
69254070
69361452
107383
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si162
7
M
Autism
ADOS score: 7. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.
69253156
69367849
114694
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si168
19
M
Autism
ADOS score: NA. Vineland composite score: 65.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 104; Non-verbal IQ, 84.
69265414
69367867
102454
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si174
9
M
Autism
ADOS score: 7. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 104; Non-verbal IQ, 104.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si175
16
F
Autism
ADOS score: 5. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si181
11
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 75; Non-verbal IQ, 92.
69276973
69367849
90877
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si183
13
M
Autism
ADOS score: 7. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si192
7
M
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 60; Non-verbal IQ, 94.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si194
9
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 104; Non-verbal IQ, 87.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si200
10
M
Autism
ADOS score: 8. Vineland composite score: 91.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 44; Non-verbal IQ, 63.
69262581
69360383
97803
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si217
10
M
Autism
ADOS score: 7. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 82; Non-verbal IQ, 90.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si22
6
M
Autism
ADOS score: 8. Vineland composite score: 89.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 104; Non-verbal IQ, 111.
69254070
69361452
107383
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si223
19
F
Autism
ADOS score: NA. Vineland composite score: 59.
No mental retardation/intellectual disability. Full-scale IQ, 120; Verbal IQ, 121; Non-verbal IQ, 125.
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si226
12
M
Autism
ADOS score: 4. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.
69260085
69367849
107765
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si229
11
F
Autism
ADOS score: 9. Vineland composite score: 69.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si237
13
M
Autism
ADOS score: 6. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 104; Non-verbal IQ, 108.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si238
10
M
Autism
ADOS score: 8. Vineland composite score: 71.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 63; Non-verbal IQ, 76.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si239
8
M
Autism
ADOS score: 4. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 118; Non-verbal IQ, 129.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si246
18
M
Autism
ADOS score: NA. Vineland composite score: 59.
No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 117; Non-verbal IQ, 118.
69293592
69367849
74258
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si250
15
M
Autism
ADOS score: 6. Vineland composite score: 66.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 60; Non-verbal IQ, 39.
69293592
69367867
74276
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si253
12
M
Autism
ADOS score: 6. Vineland composite score: 64.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 30; Non-verbal IQ, 36.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si267
11
M
Autism
ADOS score: 7. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 91; Non-verbal IQ, 89.
69306757
69360383
53627
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si270
12
M
Autism
ADOS score: 6. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 96; Non-verbal IQ, 109.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si29
8
F
Autism
ADOS score: 6. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 110; Verbal IQ, 105; Non-verbal IQ, 111.
69262581
69361452
98872
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si305
7
M
Autism
ADOS score: 8. Vineland composite score: 70.
Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 22; Non-verbal IQ, 40.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si308
11
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si319
12
M
Autism
ADOS score: 8. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 93; Non-verbal IQ, 92.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si32
7
M
Autism
ADOS score: 6. Vineland composite score: 100.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 85; Non-verbal IQ, 115.
69252432
69361452
109021
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si323
15
M
Autism
ADOS score: 10. Vineland composite score: 56.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 36; Non-verbal IQ, 61.
69286977
69360383
73407
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si327
8
M
Autism
ADOS score: 9. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 106; Non-verbal IQ, 96.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si38
15
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 116; Non-verbal IQ, 131.
69276973
69361452
84480
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si4
13
M
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 24; Non-verbal IQ, 39.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si41
10
F
Autism
ADOS score: 10. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 83; Non-verbal IQ, 54.
69276973
69361452
84480
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si43
9
M
Autism
ADOS score: 10. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 114; Non-verbal IQ, 104.
69276973
69361452
84480
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si44
19
M
Autism
ADOS score: NA. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 93; Non-verbal IQ, 67.
69269581
69405885
136305
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si46
6
F
Autism
ADOS score: 10. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 94; Non-verbal IQ, 100.
69271105
69337207
66103
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si48
11
M
Autism
ADOS score: 10. Vineland composite score: 57.
Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.
69271105
69361452
90348
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si57
11
M
Autism
ADOS score: 6. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si62
10
M
Autism
ADOS score: 8. Vineland composite score: 60.
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 15; Non-verbal IQ, 49.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si64
10
F
Autism
ADOS score: 6. Vineland composite score: 70.
Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 47; Non-verbal IQ, 41.
69260085
69367849
107765
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si65
11
M
Autism
ADOS score: 7. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 96; Non-verbal IQ, 74.
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si68
16
M
Autism
ADOS score: 6. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
69253261
69361452
108192
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si83
12
M
Autism
ADOS score: 10. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 41; Verbal IQ, 40; Non-verbal IQ, 41.
69262581
69360383
97803
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-10007107879
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69160897
69367849
206953
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-10609111027
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
69241914
69367849
125936
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-13906105868
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69387220
127136
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-16008109701
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-16909111203
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69252367
69361452
109086
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-17209111199
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69252432
69387220
134789
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-19305103869
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
69265414
69323045
57632
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21908109957
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-22307108194
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69265414
69357404
91991
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-2305102574
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-23204100689
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69252432
69361452
109021
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-24609111458
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
69241914
69367867
125954
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-24906106242
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69252367
69360383
108017
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-25804100823
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69301044
69360383
59340
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-26107108401
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
69160897
69388605
227709
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-28506106267
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29008110245
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29806106231
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-30708110281
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3205102622
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
69260085
69367849
107765
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3407107669
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
69265414
69357213
91800
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-35408110434
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
69271105
69360383
89279
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-35508110435
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
69265414
69322990
57577
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-38105103519
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-38806106786
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69252432
69361452
109021
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-40208110630
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69262581
69361452
98872
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-41504101477
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69267671
69357404
89734
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-45205104773
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
69293592
69357404
63813
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-49205104198
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69253261
69361452
108192
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-52104101908
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69367849
107765
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-54304102048
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69306757
69357213
50457
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-57105104492
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-60705104612
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-6103100278
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69253261
69361452
108192
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-61204102229
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
69262581
69360383
97803
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-62005104652
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
69265414
69360383
94970
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-62104102284
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
69252367
69367849
115483
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-63204102829
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-70104102471
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-7908109348
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69229548
69367849
138302
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-8508109357
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-8705102962
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69262581
69361452
98872
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-909110667
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69241914
69361452
119539
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9505103679
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
69276973
69360383
83411
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9605102926
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
69254070
69367849
113780
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9908109393
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
69252367
69387220
134854
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000998
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
65873016
68743024
2870009
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001192
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
69085386
69688461
603075
NCBI36
Deletion
Yes
kanduri_15_ASD_discovery_cases-case3046
N/A
N/A
ASD
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.
70255961
70266213
10253
Unknown
Deletion
No
kim_18_DD/ID_discovery_cases-case4
12 yrs. 10 mos.
M
Developmental delay/intellectual disability and epilepsy
Absent speech, dysmorphic features, epilepsy
Severe developmental delay/intellectual disability
67733279
68289448
556170
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case11030.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11164.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11165.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11199.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68567760
68613886
46127
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11223.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11274.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68567760
68618694
50935
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11327.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11330.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68567760
68618694
50935
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11339.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11412.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11450.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68496642
68618694
122053
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11551.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11685.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11766.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11859.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
68496642
68618694
122053
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11910.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11954.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68567760
68618694
50935
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12274.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12469.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68496642
68626727
130086
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12749.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12805.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
68567760
68618694
50935
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13115.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13237.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13332.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13394.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13455.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
68560536
68618694
58159
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13487.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68567760
68613886
46127
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13491.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
68560536
68618694
58159
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13498.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13501.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
68496642
68618694
122053
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13502.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13503.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13533.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68567760
68613886
46127
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13534.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14076.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
68496642
68618694
122053
GRCh38
Duplication
Yes
leblond_12_ASD_replication_cases-Pintocase6319_3
NA
M
PDD-NOS
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
68516362
68614875
98514
GRCh38
Homozygous deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
68494770
68620261
125492
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
68494770
68623617
128848
GRCh38
Deletion
No
newbury_12_ASD/CAS_discovery_cases-case1
14 yrs.
M
PDD-NOS and CAS
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
68509422
68617559
108138
GRCh38
Deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
N/A
M
ASD and intellectual disability
Developmental milestones: mild delay in walking (18 months); language regression after 2.5 years of age. Language and communication evaluation: non-verbal autism. Behavioral/psychiatric evaluation: non-verbal autism; OCD; irritability; mood disorder; stereotypies. Family history: father affected by mood disorder, anxiety, and chronic alcoholism; father's cousin affected by language delay; mother with autoimmune connective tissue disease.
Severe intellectual disability
68516653
68637917
121265
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
N/A
F
Intellectual disability and ADHD
Developmental milestones: motor delay; language delay. Motor and musculoskeletal evaluation: dyspraxia; strabismus. Behavioral/psychiatric evaluation: ADHD; some stereotypic behaviors. Brain imaging: delayed myelination detected on brain MRI. Family history: mild cognitive impairment and langauge delay in the father's cousin's daughter; sister of his maternal grandmother developed a brain tumor.
Mild intellectual disability (Leiter-R IQ score of 60)
68508845
68625116
116272
GRCh38
Deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
N/A
M
ASD and intellectual disability
Case met diagnostic criteria for ASD with both ADOS and ADI scores falling into the autism spectrum range. Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: normal motor development; delay in expressive language. Behavioral/psychiatric evaluation: anxiety; OCD; attention deficit disorder (ADD). Family history: mother suffers from major depression, psoriasis, and eating disorder; father's family includes one case of intellectual disability, a paternal grandmother affected by depression and autoimmune thyroiditis, and a paternal uncle diagnosed with OCD.
Mild intellectual disability (TIQ score of 64); memory impairment
68516653
68637917
121265
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5039_4
NA
M
ASD
NA
NA
65967395
66085217
117823
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5255_3
NA
M
ASD
NA
NA
68805584
68842725
37142
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5316_3
NA
M
ASD
NA
NA
69137075
69381445
244371
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1529A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU066505; NDAR ID NDAR_INVUA131LWQ)
68647102
69493843
846742
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case01HI1943B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU062203; NDAR ID NDAR_INVHU124LK7)
68647102
68818176
171075
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0027A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU028503; NDAR ID NDAR_INVXL501PFH)
68466629
68478993
12365
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0591B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU015003; NDAR ID NDAR_INVXP603RMN)
68818029
69212723
394695
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI0922A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
68668038
69599396
931359
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case60984L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
66515914
66631297
115384
Unknown
Deletion
No
reis_17_ASD/ID_discovery_cases-case2
29 yrs.
F
Intellectual disability
Birth/neonatal history: reported abdominal pain and vaginal bleeding during pregnancy; delivery by C-section; birth weight 4140 g, length 51 cm. Developmental milestones: first steps at 18 months of age, had not begun to produce speech until after 2 years of age. Language and communication evaluation: able to understand simple and some complex commands, uses imitation, verbal with simple sentences with substitutions (mostly "r" for "l"). Motor and musculoskeletal evaluation: large hands, clinodactyly, large feet, hypoplastic nails, kyphosis, exhibited some difficulty standing on one foot, gait was symmetric with large steps. Behavioral/psychiatric evaluation: CARS score of 24.0; presented eye contact and initiated interaction in an inappropriate form, quite puerlie with no functionality; psychomotor agitation (mainly in the mornings); occasionally aggressive, but affectionate and gentle most of the time; liked playing with other children; sometimes exhibited periods of inappropriate, hypersocial behavior and periods during which she could not stop talking; sleep difficulties. Dysmorphic features: macrocephaly, long face, low posterior hairline, arched eyebrows, long eyelashes, wide nasal bridge, thin lips, crowded teeth, low-set ears, malformed ears. Growth parameters: height of 183 cm, weight of 91.5 kg, OFC 59 cm. Karyotype: case has a paternally-inherited balanced translocation [der(8)t(4;8)(p16.3;p23.1). Family history: born to nonconsanguineous parents; no family history of ASD, other psychiatric disorders, intellectual disability, or malformations.
Diagnosed with intellectual disability in 1992
68526827
68596720
69894
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-179
N/A
N/A
CBLH-ISS
Diagnosis of cerebellar hypoplasia (CBLH) and (ISS)
68494621
68614875
120255
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
66520752
66523811
3060
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13226.p1
8.7
M
ASD
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
65967395
66085217
117823
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
68521138
68617701
96564
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
68521138
68617701
96564
GRCh38
Deletion
No
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
69057735
69165814
108079
Unknown
Deletion
No
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
70184190
70264689
80499
Unknown
Deletion
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
69057735
69165814
108079
Unknown
Deletion
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
70184190
70264689
80499
Unknown
Deletion
No
soueid_16_ASD_discovery_cases-caseCLIN34
N/A
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
68501374
68674709
173336
GRCh38
Duplication
No
speevak_11_DD_discovery_cases-case1
4.5 yrs.
M
Developmental delay/speech delay
Developmental milestones: significant speech delay (first words at 2 yrs.; at 4.5 yrs., patient was only able to use a few words in a sentence, which were not easily understood). Behavioral characteristics: aggressive behavior, autistic traits (spitting and rocking with excessive hand movements and solitary play noted at 3.5 yrs.; however, a differential diagnosis of ASD ruled out by psychiatric assessment at the time, but no specific diagnosis was suggested). Dysmorphic features: no major dysmorphic or congenitally abnormal features, other than mild 2-3 toe syndactyly. Growth parameters: height, 90th %ile; wieght, 50th %ile; head circumference, 10th %ile.
68509452
68617530
108079
GRCh38
Deletion
No
tabet_12_ASD_discovery_cases-patient1
21 yrs.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
68549226
68614875
65650
GRCh38
Deletion
No
tabet_12_ASD_discovery_cases-patient2
17 yrs. 6 mos.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 3 yrs. 2 mos.): social score, 23; communication score, 14 (non-verbal); repetitive behavior, 4; onset, 4; diagnosis of autism. ADOS module 1 evaluation (at 18 yrs. 5 mos.): communication, 6; social interaction, 14; total; 20; play, 4; interesta and behavior, 8; diagnosis of autism. CARS evaluation (at 10 yrs. 3 mos.): composite score of 37; diagnosis of mild-moderate autism. VABS II evaluation (at 18 yrs. 5 mos.): communication, 11; daily living, 23; socialization, 1; maladaptive behaviors, 20. Developmental milestones: normal development followed by regression at 26 mo; language regression at 26 mo; non verbal. Neurological evaluation: hyporeflexia, no motor deficit. Other behaviors: not fully toilet trained, hyperactivity, short and agitated sleep . Brain MRI: white matter hyperintensities, moderate cortical atrophy and thin corpus callosum. Dysmorphic features & malformations: triangular face, broad forehead, prominent orbital ridge, deep set eyes, upslanting palpebral fissures, thick upslant eyebrows, myopia, strabismus, large, prominent nasal bridge, wide, bulbous tip, anteverted nares, everted lower lip, tented philtrum wide cupid's bow, overbite, retrognathia with marked chin, backward tilted ears, ventricular septal defect (VSD), slender habitus, sternum deformity, mild scoliosis, cubitus valgus, long fingers and toes, bilateral single palmar creases and sandal gap. Growth parameters: height, 173 cm (normal range); weight, 49 kg (-2 SD); head circumference, 55 cm (-1 SD). Recurrent infections: recurrent otitis, nose and throat infections in childhood. Family history: monozygotic twin brother with autism; older brother with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
Severe intellectual disability. Ravens Colored Progressive Matrices (RCPM) at 18 yrs 4 mos.: full-scale IQ <1st %ile
68549226
68614875
65650
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
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).
Leiter-R IQ: 119 (92nd %ile)
69261926
69373382
111457
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
68516362
68637963
121602
GRCh38
Duplication
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
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
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
68509011
68625116
116106
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case1-0138-004
N/A
M
ASD
N/A
N/A
65967395
66085217
117823
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case1-0455-003
N/A
M
ASD
N/A
N/A
66510193
66527245
17053
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case2-0082-004
N/A
M
ASD
N/A
N/A
66497502
66585857
88356
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-14186-3050
N/A
M
ASD
N/A
N/A
65967395
66085217
117823
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-14208-3350
N/A
M
ASD
N/A
N/A
65957011
66085217
128207
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case197
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
68506273
68544494
38222
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case198
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
68506273
68544494
38222
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case199
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
68506273
68544494
38222
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case200
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
68506273
68544494
38222
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case201
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
68506273
68544494
38222
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036021087_
N/A
N/A
Control
No previous psychiatric history
69181212
69372370
191159
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036024651_
N/A
N/A
Control
No previous psychiatric history
69279223
69368701
89479
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB439994_1007852600
N/A
N/A
Control
No previous psychiatric history
69264211
69409759
145549
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB476506_1007852940
N/A
N/A
Control
No previous psychiatric history
69191291
69357164
165874
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB483586_1007842342
N/A
N/A
Control
No previous psychiatric history
69279223
69368701
89479
GRCh38
Homozygous deletion
No
engchuan_15_ASD_discovery_controls-controlB507195_1007874871
N/A
N/A
Control
No previous psychiatric history
67983659
68022133
38475
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB519248_1007840750
N/A
N/A
Control
No previous psychiatric history
69279223
69368701
89479
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB529705_1007840923
N/A
N/A
Control
No previous psychiatric history
69264211
69390243
126033
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB536676_1007840725
N/A
N/A
Control
No previous psychiatric history
69279223
69368701
89479
GRCh38
Homozygous deletion
No
engchuan_15_ASD_discovery_controls-controlB599687_1007875248
N/A
N/A
Control
No previous psychiatric history
68805584
68842725
37142
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB611425_1007873622
N/A
N/A
Control
No previous psychiatric history
69264211
69390243
126033
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB773734_1007873292
N/A
N/A
Control
No previous psychiatric history
69264211
69390243
126033
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB841482_1007854027
N/A
N/A
Control
No previous psychiatric history
69268622
69409759
141138
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB856688_1007852525
N/A
N/A
Control
No previous psychiatric history
51474
286334
234861
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB964889_1007843494
N/A
N/A
Control
No previous psychiatric history
68805584
68842725
37142
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB996895_1007855015
N/A
N/A
Control
No previous psychiatric history
68812961
68850227
37267
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900874_900874
N/A
N/A
Control
No previous psychiatric history
69305562
69368701
63140
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901034_901034
N/A
N/A
Control
No previous psychiatric history
69264211
69409759
145549
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901101_901101
N/A
N/A
Control
No previous psychiatric history
67983659
68022133
38475
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901138_901138
N/A
N/A
Control
No previous psychiatric history
67983659
68027648
43990
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902809_902809
N/A
N/A
Control
No previous psychiatric history
68805584
68842725
37142
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_102
NA
NA
Control
NA
NA
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_107
NA
NA
Control
NA
NA
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_118
NA
NA
Control
NA
NA
69241914
69360383
118470
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_124
NA
NA
Control
NA
NA
69253156
69367867
114712
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_140
NA
NA
Control
NA
NA
69254070
69361452
107383
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_143
NA
NA
Control
NA
NA
69262581
69361452
98872
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_145
NA
NA
Control
NA
NA
69253261
69367849
114589
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_154
NA
NA
Control
NA
NA
69286977
69360383
73407
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_159
NA
NA
Control
NA
NA
69265414
69361452
96039
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_165
NA
NA
Control
NA
NA
69265414
69361452
96039
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_166
NA
NA
Control
NA
NA
69265414
69360383
94970
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_167
NA
NA
Control
NA
NA
69265414
69361452
96039
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_168
NA
NA
Control
NA
NA
69262581
69361452
98872
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_174
NA
NA
Control
NA
NA
69265414
69360383
94970
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_176
NA
NA
Control
NA
NA
69265414
69361452
96039
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_177
NA
NA
Control
NA
NA
69265414
69360383
94970
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_179
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_182
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_183
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_184
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_187
NA
NA
Control
NA
NA
69260085
69367867
107783
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_188
NA
NA
Control
NA
NA
69252367
69361452
109086
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_197
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_201
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_208
NA
NA
Control
NA
NA
69260085
69367849
107765
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_21
NA
NA
Control
NA
NA
69306757
69361452
54696
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_213
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_221
NA
NA
Control
NA
NA
69265414
69361452
96039
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_226
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_228
NA
NA
Control
NA
NA
69253156
69361452
108297
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_234
NA
NA
Control
NA
NA
69265414
69360383
94970
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_248
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_250
NA
NA
Control
NA
NA
69260085
69367849
107765
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_253
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_262
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_266
NA
NA
Control
NA
NA
69262581
69343650
81070
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_279
NA
NA
Control
NA
NA
69260085
69367849
107765
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_296
NA
NA
Control
NA
NA
69231221
69361452
130232
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_299
NA
NA
Control
NA
NA
69262581
69367867
105287
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_303
NA
NA
Control
NA
NA
69265414
69361452
96039
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_304
NA
NA
Control
NA
NA
69265414
69360383
94970
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_320
NA
NA
Control
NA
NA
69253261
69367849
114589
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_324
NA
NA
Control
NA
NA
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_37
NA
NA
Control
NA
NA
69260085
69367867
107783
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_64
NA
NA
Control
NA
NA
69159815
69367849
208035
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_92
NA
NA
Control
NA
NA
69159815
69388605
228791
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-10106105795
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69235914
69361452
125539
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-105102427
N/A
N/A
Control
Ethnicity: Hispanic
N/A
69265414
69360383
94970
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-1105102542
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11509111055
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69265414
69360383
94970
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-12110113024
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-14406105966
N/A
N/A
Control
Ethnicity: Hispanic
N/A
69262581
69354628
92048
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-1707107618
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69260085
69357213
97129
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-17407108057
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-26405103148
N/A
N/A
Control
Ethnicity: Hispanic
N/A
69265414
69323045
57632
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-26707108441
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69252432
69360383
107952
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-28409111558
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69252432
69361452
109021
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-28706106413
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69253156
69361452
108297
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-29005103467
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-30706106486
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69241914
69361452
119539
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-32607108609
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69301044
69357213
56170
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-35706106616
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-36206106646
N/A
N/A
Control
Ethnicity: African American
N/A
69310076
69367849
57774
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-40804101794
N/A
N/A
Control
Ethnicity: Hispanic
N/A
69260085
69367867
107783
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-41406106851
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-45706106971
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69231221
69361452
130232
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-54206107480
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
69253261
69367867
114607
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-55105104410
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69293592
69361452
67861
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-6007107751
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69260085
69361452
101368
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-606105484
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69260085
69357886
97802
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-6608109280
N/A
N/A
Control
Ethnicity: Hispanic
N/A
69260085
69360383
100299
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-8206105715
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69252432
69367849
115418
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-9507107845
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69241914
69357404
115491
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control11099.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11199.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68567760
68613886
46127
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11355.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11395.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11554.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11966.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12101.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12229.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68567760
68618694
50935
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12854.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68567760
68618694
50935
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12908.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68567760
68618694
50935
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13038.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13042.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13080.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13089.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13115.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13237.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68567760
68618694
50935
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13332.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68496642
68626727
130086
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13502.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13526.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13534.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13544.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68560536
68618694
58159
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13835.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
68496642
68618694
122053
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C37424A
N/A
M
Control
NIMH Control (NIMH ID 98134)
68560535
68830879
270345
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11008.s1
26.3
M
Control (matched sibling)
NA
NA
66397844
66581256
183413
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11241.s1
11.9
M
Control (matched sibling)
NA
NA
66532982
66533925
944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
67091859
67118340
26482
GRCh38
Deletion
No
soueid_16_ASD_discovery_controls-control8
N/A
N/A
Control
68501374
68674709
173336
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11376
aCGH (Agilent 4x180K or 8x60K)
Unknown
Simplex
NA
UGT2B29P,UGT2B17
celestino-soper_11_ASD_discovery_cases-11378
Solid phase hybridization (Illumina 1M SNP)
De novo
Simplex
NA
UGT2B15,UGT2B17
celestino-soper_11_ASD_discovery_cases-11412
Solid phase hybridization (Illumina 1M SNP)
De novo
Simplex
NA
UGT2B15,UGT2B17
chilian_13_DD/ID_discovery_cases-case1
Unknown
Possibly simplex (no info on 1st child)
Unknown
UGT2B29P,UGT2B17
chung_11_ASD_discovery_cases-proband
Paternal
Simplex
NA
UGT2B29P,UGT2B17
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
UGT2B28
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
UGT2B15
engchuan_15_ASD_discovery_cases-case13013_173
Unknown
UGT2B28
engchuan_15_ASD_discovery_cases-case13049_583
Unknown
UGT2B25P,UGT2B28,UGT2B24P
engchuan_15_ASD_discovery_cases-case13050_593
Unknown
UGT2B28
engchuan_15_ASD_discovery_cases-case14087_1510
Unknown
UGT2B25P,UGT2B28,UGT2B24P,UGT2B4
engchuan_15_ASD_discovery_cases-case14186_3050
Unknown
engchuan_15_ASD_discovery_cases-case14208_3350
Unknown
engchuan_15_ASD_discovery_cases-case16029_1571001001
Unknown
CENPC
engchuan_15_ASD_discovery_cases-case18164_302
Unknown
UGT2B10
engchuan_15_ASD_discovery_cases-case2256_1
Unknown
UGT2B25P,UGT2B28
engchuan_15_ASD_discovery_cases-case3015_3
Unknown
UGT2B28
engchuan_15_ASD_discovery_cases-case3377_3
Unknown
TMPRSS11CP,RNU6-95P,GCOM2,MTND2P41,SYT14P1,GNRHR,TMPRSS11D,TMPRSS11A,TMPRSS11GP,TMPRSS11F,FTLP10,UBA6-AS1
engchuan_15_ASD_discovery_cases-case3386_4
Unknown
UGT2B10
engchuan_15_ASD_discovery_cases-case3420_3
Unknown
UGT2B28
engchuan_15_ASD_discovery_cases-case3481_3
Unknown
UGT2B10
engchuan_15_ASD_discovery_cases-case3517_3
Unknown
TMPRSS11A,UBA6-AS1
engchuan_15_ASD_discovery_cases-case5033_3
Unknown
UGT2B28
engchuan_15_ASD_discovery_cases-case5039_4
Unknown
engchuan_15_ASD_discovery_cases-case5122_3
Unknown
UGT2B28
engchuan_15_ASD_discovery_cases-case5255_3
Unknown
UGT2B10
engchuan_15_ASD_discovery_cases-case5307_3
Unknown
UGT2B28
engchuan_15_ASD_discovery_cases-case5316_3
Unknown
UGT2B28,UGT2B11
engchuan_15_ASD_discovery_cases-case5530_4
Unknown
engchuan_15_ASD_discovery_cases-case6014_3
Unknown
RNU6-95P,TMPRSS11GP,UBA6-AS1
engchuan_15_ASD_discovery_cases-case6270_3
Unknown
UGT2B28
engchuan_15_ASD_discovery_cases-case6272_3
Unknown
UGT2B25P,UGT2B28,UGT2B24P
engchuan_15_ASD_discovery_cases-case6384_3
Unknown
UGT2B28
fan_18_DD/ID_discovery_cases-subject1
Unknown
Unknown
UGT2B15
girirajan_11_ASD_discovery_cases-Si100
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si110
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si118
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si125
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si127
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si134
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si138
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si14
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si142
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si147
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si151
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si152
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si161
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si162
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si168
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si174
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si175
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si181
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si183
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si192
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si194
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si200
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si217
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si22
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si223
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si226
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si229
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si237
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si238
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si239
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si246
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si250
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si253
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si267
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si270
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si29
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si305
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si308
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si319
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si32
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si323
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si327
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si38
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si4
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si41
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si43
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si44
Unknown
Simplex
UGT2B25P,UGT2B28
girirajan_11_ASD_discovery_cases-Si46
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si48
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si57
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si62
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si64
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si65
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si68
Unknown
Simplex
UGT2B28
girirajan_11_ASD_discovery_cases-Si83
Unknown
Simplex
UGT2B28
girirajan_13b_ASD_discovery_cases-10007107879
Unknown
Unknown
Unknown
UGT2B28,UGT2B11
girirajan_13b_ASD_discovery_cases-10609111027
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-13906105868
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-16008109701
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-16909111203
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-17209111199
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-19305103869
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-21908109957
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-22307108194
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-2305102574
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-23204100689
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-24609111458
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-24906106242
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-25804100823
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-26107108401
Unknown
Unknown
Unknown
UGT2B28,UGT2B11
girirajan_13b_ASD_discovery_cases-28506106267
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-29008110245
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-29806106231
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-30708110281
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-3205102622
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-3407107669
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-35408110434
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-35508110435
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-38105103519
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-38806106786
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-40208110630
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-41504101477
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-45205104773
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-49205104198
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-52104101908
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-54304102048
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-57105104492
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-60705104612
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-6103100278
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-61204102229
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-62005104652
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-62104102284
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-63204102829
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-70104102471
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-7908109348
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-8508109357
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-8705102962
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-909110667
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-9505103679
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-9605102926
Unknown
Unknown
Unknown
UGT2B28
girirajan_13b_ASD_discovery_cases-9908109393
Unknown
Unknown
Unknown
UGT2B28
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000998
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1269A,RPS23P3,RNU6-699P,RNU1-63P,RNA5SP527,ST3GAL1P1,TMPRSS11CP,RNU6-95P,GCOM2,MTND2P41,SYT14P1,MT2P1,UGT2B29P,STAP1,GNRHR,TMPRSS11D,TMPRSS11A,TMPRSS11GP,TMPRSS11F,FTLP10,TMPRSS11BNL,TMPRSS11B,APOOP4,YTHDC1,TMPRSS11E,UGT2B15,CENPC,UBA6,UBA6-AS1,UGT2B17
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001192
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
UGT2B17,UGT2B15,TMPRSS11E
kanduri_15_ASD_discovery_cases-case3046
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, UGT2B28(dist=95193),UGT2B4(dist=79670)
kim_18_DD/ID_discovery_cases-case4
Unknown
TMPRSS11CP,RNU6-95P,GCOM2,MTND2P41,SYT14P1,GNRHR,TMPRSS11D,TMPRSS11A,TMPRSS11GP,TMPRSS11F,FTLP10,TMPRSS11BNL,TMPRSS11B,UBA6-AS1
krumm_15_ASD_discovery_cases-case11030.p1
Illumina 1M
Maternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case11164.p1
Illumina 1M
Paternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case11165.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case11199.p1
Illumina 1M
De novo
Simplex
Not segregated (CNV in unaffected sibling)
UGT2B17
krumm_15_ASD_discovery_cases-case11223.p1
Illumina 1M
Maternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case11274.p1
Illumina 1M
De novo
Simplex
Not segregated (CNV in unaffected sibling)
UGT2B17
krumm_15_ASD_discovery_cases-case11327.p1
Illumina 1M
De novo
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case11330.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case11339.p1
Illumina 1M
Maternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case11412.p1
Illumina 1M
De novo
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case11450.p1
Illumina 1M
Paternal
Simplex
Segregated
UGT2B29P,TMPRSS11E,UGT2B17
krumm_15_ASD_discovery_cases-case11551.p1
Illumina 1M
De novo
Simplex
Not segregated (CNV in unaffected sibling)
UGT2B17
krumm_15_ASD_discovery_cases-case11685.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case11766.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case11859.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
UGT2B29P,TMPRSS11E,UGT2B17
krumm_15_ASD_discovery_cases-case11910.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case11954.p1
Illumina 1MDuo
De novo
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case12274.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case12469.p1
Illumina 1MDuo
De novo
Simplex
Not segregated (CNV in unaffected sibling)
UGT2B29P,TMPRSS11E,UGT2B17
krumm_15_ASD_discovery_cases-case12749.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case12805.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case13115.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
UGT2B17
krumm_15_ASD_discovery_cases-case13237.p1
1M-Duov3
De novo
Simplex
Not segregated (CNV in unaffected sibling)
UGT2B17
krumm_15_ASD_discovery_cases-case13332.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
UGT2B17
krumm_15_ASD_discovery_cases-case13394.p1
1M-Duov3
Paternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case13455.p1
1M-Duov3
Maternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case13487.p1
1M-Duov3
Paternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case13491.p1
1M-Duov3
Paternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case13498.p1
1M-Duov3
De novo
Simplex
Not segregated (CNV in unaffected sibling)
UGT2B17
krumm_15_ASD_discovery_cases-case13501.p1
1M-Duov3
Maternal
Simplex
Segregated
UGT2B29P,TMPRSS11E,UGT2B17
krumm_15_ASD_discovery_cases-case13502.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
UGT2B17
krumm_15_ASD_discovery_cases-case13503.p1
1M-Duov3
De novo
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case13533.p1
1M-Duov3
Paternal
Simplex
Segregated
UGT2B17
krumm_15_ASD_discovery_cases-case13534.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
UGT2B17
krumm_15_ASD_discovery_cases-case14076.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
UGT2B29P,TMPRSS11E,UGT2B17
leblond_12_ASD_replication_cases-Pintocase6319_3
Both parents
UGT2B29P,UGT2B17
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
UGT2B29P,TMPRSS11E,UGT2B17
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
UGT2B29P,TMPRSS11E,UGT2B17
newbury_12_ASD/CAS_discovery_cases-case1
Unknown
Simplex
Unknown (common in DGV)
UGT2B29P,UGT2B17
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
Unknown
Multi-generational
Unknown
UGT2B29P,UGT2B17
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
Maternal
Multi-generational
Unknown
UGT2B29P,UGT2B17
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
Both parents
Multi-generational
Unknown
UGT2B29P,UGT2B17
pinto_10_ASD_discovery_cases-case5039_4
Agilent1M
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5255_3
Agilent1M
maternal
NA
NA
UGT2B10
pinto_10_ASD_discovery_cases-case5316_3
Agilent1M
Both parents
NA
NA
UGT2B28,UGT2B11
poultney_13_ASD_discovery_cases-case00HI1529A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
UGT2B25P,UGT2B15,UGT2B10,UGT2B27P,UGT2B26P,UGT2B28,UGT2B24P,UGT2B4,UGT2A3,UGT2B7,UGT2B11
poultney_13_ASD_discovery_cases-case01HI1943B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
UGT2B15,UGT2B10
poultney_13_ASD_discovery_cases-case98HI0027A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TMPRSS11E
poultney_13_ASD_discovery_cases-case98HI0591B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
UGT2B10,UGT2B27P,UGT2B26P,UGT2A3,UGT2B7,UGT2B11
poultney_13_ASD_discovery_cases-case99HI0922A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
UGT2B25P,UGT2A3P7,UGT2B15,UGT2B10,UGT2B27P,UGT2B26P,UGT2B28,UGT2B24P,UGT2B4,UGT2A3,UGT2B7,UGT2A1,UGT2A2,UGT2B11
prasad_12_ASD_discovery_cases-case60984L
Unknown
Unknown
Unknown
0 genes
reis_17_ASD/ID_discovery_cases-case2
De novo
Multiplex
Not segregated
UGT2B17
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-179
Not tested by qPCR
Unknown
Unknown
Unknown
UGT2B29P,TMPRSS11E,UGT2B17
sanders_11_ASD_discovery_cases-12033.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-13226.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
UGT2B17
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
UGT2B17
shen_10b_ASD_discovery_cases-caseII:5
Both parents
Simplex
Unknown
UGT2B17
shen_10b_ASD_discovery_cases-caseII:5
Paternal
Simplex
Unknown
UGT2B28
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Both parents
Simplex (ASD), Multiplex (language delay)
Not segregated
UGT2B17
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Paternal
Simplex (ASD), Multiplex (language delay)
Not segregated
UGT2B28
soueid_16_ASD_discovery_cases-caseCLIN34
De novo
N/A
UGT2B29P,UGT2B15,UGT2B17
speevak_11_DD_discovery_cases-case1
Unknown
NA
NA
UGT2B29P,UGT2B17
tabet_12_ASD_discovery_cases-patient1
Maternal
Multiplex
Unknown
UGT2B17
tabet_12_ASD_discovery_cases-patient2
Maternal
Multiplex
Unknown
UGT2B17
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
UGT2B28
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
UGT2B29P,UGT2B17
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
UGT2B29P,UGT2B17
walker_13_ASD_discovery_cases-case1-0138-004
Long-range PCR or qPCR
Paternal
Multiplex
Not segregated (deletion absent in affected sibling)
walker_13_ASD_discovery_cases-case1-0455-003
Long-range PCR or qPCR
Maternal
Multiplex
Not segregated (deletion absent in affected sibling)
walker_13_ASD_discovery_cases-case2-0082-004
Long-range PCR or qPCR
Maternal
Multiplex
Not segregated (deletion absent in affected sibling)
walker_13_ASD_discovery_cases-case8-14186-3050
Long-range PCR or qPCR
Paternal
Simplex
Segregated
walker_13_ASD_discovery_cases-case8-14208-3350
Long-range PCR or qPCR
Maternal
Simplex
Segregated
yin_16_ASD_discovery_cases-case197
Unknown
Unknown
Unknown
UGT2B29P,UGT2B17
yin_16_ASD_discovery_cases-case198
Unknown
Unknown
Unknown
UGT2B29P,UGT2B17
yin_16_ASD_discovery_cases-case199
Unknown
Unknown
Unknown
UGT2B29P,UGT2B17
yin_16_ASD_discovery_cases-case200
Unknown
Unknown
Unknown
UGT2B29P,UGT2B17
yin_16_ASD_discovery_cases-case201
Unknown
Unknown
Unknown
UGT2B29P,UGT2B17
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036021087_
Unknown
UGT2B28,UGT2B11
engchuan_15_ASD_discovery_controls-control110036024651_
Unknown
UGT2B28
engchuan_15_ASD_discovery_controls-controlB439994_1007852600
Unknown
UGT2B25P,UGT2B28,UGT2B24P
engchuan_15_ASD_discovery_controls-controlB476506_1007852940
Unknown
UGT2B28,UGT2B11
engchuan_15_ASD_discovery_controls-controlB483586_1007842342
Unknown
UGT2B28
engchuan_15_ASD_discovery_controls-controlB507195_1007874871
Unknown
RNU6-95P,TMPRSS11GP,UBA6-AS1
engchuan_15_ASD_discovery_controls-controlB519248_1007840750
Unknown
UGT2B28
engchuan_15_ASD_discovery_controls-controlB529705_1007840923
Unknown
UGT2B25P,UGT2B28
engchuan_15_ASD_discovery_controls-controlB536676_1007840725
Unknown
UGT2B28
engchuan_15_ASD_discovery_controls-controlB599687_1007875248
Unknown
UGT2B10
engchuan_15_ASD_discovery_controls-controlB611425_1007873622
Unknown
UGT2B25P,UGT2B28
engchuan_15_ASD_discovery_controls-controlB773734_1007873292
Unknown
UGT2B25P,UGT2B28
engchuan_15_ASD_discovery_controls-controlB841482_1007854027
Unknown
UGT2B25P,UGT2B28,UGT2B24P
engchuan_15_ASD_discovery_controls-controlB856688_1007852525
Unknown
engchuan_15_ASD_discovery_controls-controlB964889_1007843494
Unknown
UGT2B10
engchuan_15_ASD_discovery_controls-controlB996895_1007855015
Unknown
UGT2B10
engchuan_15_ASD_discovery_controls-controlHABC_900874_900874
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901034_901034
Unknown
UGT2B25P,UGT2B28,UGT2B24P
engchuan_15_ASD_discovery_controls-controlHABC_901101_901101
Unknown
RNU6-95P,TMPRSS11GP,UBA6-AS1
engchuan_15_ASD_discovery_controls-controlHABC_901138_901138
Unknown
RNU6-95P,TMPRSS11GP,UBA6-AS1
engchuan_15_ASD_discovery_controls-controlHABC_902809_902809
Unknown
UGT2B10
girirajan_11_ASD_discovery_controls-NIMH_102
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_107
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_118
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_124
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_140
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_143
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_145
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_154
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_159
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_165
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_166
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_167
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_168
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_174
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_176
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_177
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_179
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_182
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_183
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_184
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_187
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_188
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_197
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_201
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_208
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_21
Unknown
girirajan_11_ASD_discovery_controls-NIMH_213
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_221
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_226
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_228
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_234
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_248
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_250
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_253
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_262
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_266
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_279
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_296
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_299
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_303
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_304
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_320
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_324
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_37
Unknown
UGT2B28
girirajan_11_ASD_discovery_controls-NIMH_64
Unknown
UGT2B28,UGT2B11
girirajan_11_ASD_discovery_controls-NIMH_92
Unknown
UGT2B28,UGT2B11
girirajan_13b_ASD_discovery_controls-10106105795
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-105102427
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-1105102542
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-11509111055
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-12110113024
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-14406105966
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-1707107618
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-17407108057
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-26405103148
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-26707108441
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-28409111558
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-28706106413
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-29005103467
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-30706106486
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-32607108609
Unknown
girirajan_13b_ASD_discovery_controls-35706106616
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-36206106646
Unknown
girirajan_13b_ASD_discovery_controls-40804101794
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-41406106851
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-45706106971
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-54206107480
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-55105104410
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-6007107751
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-606105484
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-6608109280
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-8206105715
Unknown
UGT2B28
girirajan_13b_ASD_discovery_controls-9507107845
Unknown
UGT2B28
krumm_15_ASD_discovery_controls-control11099.s1
Illumina 1M
De novo
UGT2B17
krumm_15_ASD_discovery_controls-control11199.s1
Illumina 1M
De novo
UGT2B17
krumm_15_ASD_discovery_controls-control11355.s1
Illumina 1M
Maternal
UGT2B17
krumm_15_ASD_discovery_controls-control11395.s1
Illumina 1M
De novo
UGT2B17
krumm_15_ASD_discovery_controls-control11554.s1
Illumina 1M
De novo
UGT2B17
krumm_15_ASD_discovery_controls-control11966.s1
Illumina 1MDuo
De novo
UGT2B17
krumm_15_ASD_discovery_controls-control12101.s1
Illumina 1MDuo
De novo
UGT2B17
krumm_15_ASD_discovery_controls-control12229.s1
Illumina 1MDuo
De novo
UGT2B17
krumm_15_ASD_discovery_controls-control12854.s1
1M-Duov3
Paternal
UGT2B17
krumm_15_ASD_discovery_controls-control12908.s1
Illumina 1MDuo
Maternal
UGT2B17
krumm_15_ASD_discovery_controls-control13038.s1
Illumina 1MDuo
Maternal
UGT2B17
krumm_15_ASD_discovery_controls-control13042.s1
Illumina 1MDuo
De novo
UGT2B17
krumm_15_ASD_discovery_controls-control13080.s1
Illumina 1MDuo
Paternal
UGT2B17
krumm_15_ASD_discovery_controls-control13089.s1
Illumina 1MDuo
Paternal
UGT2B17
krumm_15_ASD_discovery_controls-control13115.s1
1M-Duov3
Paternal
UGT2B17
krumm_15_ASD_discovery_controls-control13237.s1
1M-Duov3
De novo
UGT2B17
krumm_15_ASD_discovery_controls-control13332.s1
1M-Duov3
Maternal
UGT2B29P,TMPRSS11E,UGT2B17
krumm_15_ASD_discovery_controls-control13502.s1
1M-Duov3
Maternal
UGT2B17
krumm_15_ASD_discovery_controls-control13526.s1
1M-Duov3
Paternal
UGT2B17
krumm_15_ASD_discovery_controls-control13534.s1
1M-Duov3
Paternal
UGT2B17
krumm_15_ASD_discovery_controls-control13544.s1
1M-Duov3
Paternal
UGT2B17
krumm_15_ASD_discovery_controls-control13835.s1
Omni2.5-4v1
Paternal
UGT2B29P,TMPRSS11E,UGT2B17
poultney_13_ASD_discovery_controls-control04C37424A
Unknown
UGT2B15,UGT2B10,UGT2B17
sanders_11_ASD_discovery_controls-11008.s1
Paternal
Simplex (quad)
NA
RPS23P3
sanders_11_ASD_discovery_controls-11241.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12424.s1
Both parents
Simplex (quad)
NA
soueid_16_ASD_discovery_controls-control8
UGT2B29P,UGT2B15,UGT2B17
No Animal Model Data Available