7p14.1CNV Type: Deletion-Duplication
Largest CNV size: 105919 bp
Statistics Box:
Number of Reports: 22
Number of Reports: 22
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
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
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-Duplication
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
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
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
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
8729
2
0
2
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
249306
0
1
1
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
409000
0
1
1
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
308888
13
4
17
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
92038
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
333613
0
1
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.
67230
3
0
3
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
123653
39
0
39
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
162951
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
503000
1
0
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
124000
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
110571
0
1
1
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
10359
1
0
1
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
105919
2
0
2
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
107142
1
0
1
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)
13547
1
1
2
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
134554
6
4
10
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
121419
7
0
7
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
94973
12
6
18
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
89646
1
0
1
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
112000
1
0
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
112000
1
0
1
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
408713
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
0
0
0
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
237808
8
4
12
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.
67230
0
0
0
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
162996
17
0
17
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
38829
0
1
1
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)
42922
2
0
2
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)
134554
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.
81096
9
2
11
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
112000
1
0
1
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
408713
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
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
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
qPCR
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
newbury_12_ASD/CAS_discovery_cases
European (Caucasian)
aCGH
Agilent 244K
Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
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)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
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_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
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
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
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
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
brandler_18_ASD_replication_cases-case3-0781-000
N/A
M
ASD
Case from MSSNG cohort
37314351
37316693
2343
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU4007302
N/A
F
ASD
Case from MSSNG cohort
42156047
42164775
8729
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case95
NA
M
ASD and intellectual disability
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
Intellectual disability.
39884545
40133850
249306
GRCh38
Duplication
No
chen_17_ASD_discovery_cases-caseU-1428
N/A
F
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 7 (past score 13); Qualitative abnormalities in verbal and nonverbal communication, current score 10 (past score 13); Qualitative abnormalities in nonverbal communication, current score 5 (past score 8); Restricted, repetitive, and stereotyped patterns of behaviour, current score 0 (past score 1); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 91; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 22. Epilepsy: no history of epilepsy.
Performance IQ 72, Verbal IQ 73, Full-scale IQ 69
39097461
39506174
408714
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case1184_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
41064513
41114784
50272
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13004_53
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42829886
43138774
308889
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14011_210
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38241216
38324328
83113
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14072_1250
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38234010
38343642
109633
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)
38278989
38322024
43036
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18095_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38233704
38319127
85424
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3118_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38248669
38324688
76020
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3508_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38028121
38088724
60604
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3539_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40138528
40171964
33437
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3576_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38233704
38340845
107142
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4008_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38233704
38343642
109939
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4156_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38248669
38343642
94974
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4336_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38234010
38322471
88462
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4541_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38229691
38335609
105919
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5090_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38229691
38335609
105919
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5285_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40397851
40490081
92231
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5302_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40368715
40410305
41591
GRCh38
Duplication
No
fan_18_DD/ID_discovery_cases-subject3
6 yrs.
F
Developmental delay/intellectual disability and autistic features
Developmental milestones: severe delays in gross and fine motor skill development, extremely severe delays in language development and social communication development, severe delays in adaptivity. Language and communication evaluation: language ability equivalent to 13 months. Behavioral/psychiatric evaluation: autistic behaviors, stereotypic behavior (hand flapping). Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: height and weight both normal, head circumference -1 SD ~ -2 SD.
Severe intellectual disability
38255381
38347419
92039
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case611-3
5 yrs.
M
ASD
ASD, hypotonia, progressive motor impairments including difficulty walking
N/A
37873448
38207062
333615
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si208
14
M
Autism
ADOS score: 4. Vineland composite score: 61.
No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 84; Non-verbal IQ, 132.
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si311
7
M
Autism
ADOS score: 8. Vineland composite score: 67.
Mild mental retardation/intellectual disability. Full-scale IQ, 69; Verbal IQ, 59; Non-verbal IQ, 59.
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si7
17
M
Autism
ADOS score: NA. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 73.
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-12308109510
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-13107107988
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38248689
38329015
80327
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
38226396
38350049
123654
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-14909111141
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-1709110692
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-20708109930
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
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
38282819
38350049
67231
GRCh38
Homozygous 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
38282819
38350049
67231
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
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-24705103861
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-28305103475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
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
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29908110268
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
38282819
38350049
67231
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
38282819
38350049
67231
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
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3309110754
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-33105103786
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38232748
38329015
96268
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-33608110351
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-34905104010
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3508108947
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
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
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3605102633
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
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
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-44106106924
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-47306107043
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38399935
117117
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-51206107184
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-59704102165
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38248689
38350049
101361
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-60504102200
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-60704102209
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
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
38282819
38350049
67231
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
38232748
38350049
117302
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-63104102826
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
38248689
38350049
101361
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
38286617
38373423
86807
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-63205104572
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38282819
38350049
67231
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
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-708108819
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
38206298
38329015
122718
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-8205102886
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
38248689
38350049
101361
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
38219931
38329015
109085
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003889
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42055193
42218144
162952
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU1811302
N/A
N/A
ASD
40185530
40689011
503482
GRCh38
Deletion
Yes
monteiro_19_ASD_discovery_cases_case8
N/A
F
ASD, DD, and ID
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: developmental delay. Dysmorphic features: none reported.
Intellectual disability
39968852
40092921
124070
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case123604
N/A
M
DCD/ADHD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis ADHD; sibling diagnosis unaffected.
38663872
38774442
110571
GRCh38
Duplication
Yes
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.
38270111
38280470
10360
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1184_3
NA
M
ASD
NA
NA
41064513
41114784
50272
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5090_3
NA
M
ASD
NA
NA
38229691
38335609
105919
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case3576_4
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
38233704
38340845
107142
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI3540A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1393306; NDAR ID NDAR_INVDL294GEW)
38349782
38363328
13547
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1152A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU018803; NDAR ID N/A)
38358512
38363328
4817
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case46992
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
40373424
40416471
43048
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47395
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
38285037
38305579
20543
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47828
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
38285037
38310599
25563
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50067
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
39974722
40109275
134554
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60576
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
43210229
43217598
7370
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60811
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
40373624
40398835
25212
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case67955-L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
39487194
39504080
16887
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case67955-L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
43210229
43217598
7370
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68160L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
43210229
43217598
7370
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case91547L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
40403491
40502666
99176
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1070-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
38278989
38335096
56108
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1226-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: no.
Developmental delay: no. Intellectual disability: unknown.
38278989
38333930
54942
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1545-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
38278989
38333930
54942
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP95-030_LP
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes (onset at 2 days).
Developmental delay: yes. Intellectual disability: yes.
38278989
38333930
54942
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-185
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
40305183
40426601
121419
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-371
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
38278989
38333930
54942
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-128
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
38248669
38316944
68276
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11107.p1
6.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 37; verbal IQ, 25
38248669
38343642
94974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11193.p1
7.5
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
42324206
42350334
26129
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11394.p1
5.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
38258684
38302014
43331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11470.p1
8.7
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 76
38254513
38261529
7017
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11516.p1
12.8
M
Aspergers
NA
Full-scale IQ, 111; non-verbal IQ, 112; verbal IQ, 107
38254513
38273422
18910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11522.p1
11.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
38254513
38333930
79418
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11581.p1
5.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
41766751
41772885
6135
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11654.p1
8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 47
40400634
40437026
36393
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
37892653
37896928
4276
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11793.p1
16.8
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 129
38254513
38261529
7017
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11913.p1
4.5
F
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 99; verbal IQ, 105
38254513
38295919
41407
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11919.p1
4.1
M
ASD
NA
Full-scale IQ, 84; non-verbal IQ, 77; verbal IQ, 104
38254513
38333930
79418
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11942.p1
10.3
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
39968526
39972504
3979
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11977.p1
10.2
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
38309211
38317722
8512
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12015.p1
7.2
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 92; verbal IQ, 60
38254513
38261529
7017
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12233.p1
5.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
38254513
38261529
7017
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12366.p1
4
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
38254513
38295919
41407
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
38258684
38303484
44801
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).
38264616
38354261
89646
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK40
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
38250697
38363006
112310
GRCh38
Deletion
No
soueid_16_DD/ID_discovery_cases-case1
N/A
N/A
Developmental delay/intellectual disability
38250697
38363006
112310
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case261
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
39018977
39023370
4394
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case262
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
39097461
39506174
408714
GRCh38
Duplication
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-control110036015915_
N/A
N/A
Control
No previous psychiatric history
38233704
38368878
135175
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036017424_
N/A
N/A
Control
No previous psychiatric history
38233704
38368878
135175
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036022325_
N/A
N/A
Control
No previous psychiatric history
38234010
38368878
134869
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036023398_
N/A
N/A
Control
No previous psychiatric history
38234010
38368878
134869
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB501678_1007872289
N/A
N/A
Control
No previous psychiatric history
40084538
40138528
53991
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB999332_1007870352
N/A
N/A
Control
No previous psychiatric history
38248669
38302324
53656
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
N/A
N/A
Control
No previous psychiatric history
40140849
40171964
31116
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
N/A
N/A
Control
No previous psychiatric history
39958500
40100873
142374
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900541_900541
N/A
N/A
Control
No previous psychiatric history
40140849
40171964
31116
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900845_900845
N/A
N/A
Control
No previous psychiatric history
38234010
38318811
84802
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902521_902521
N/A
N/A
Control
No previous psychiatric history
40071121
40202938
131818
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902606_902606
N/A
N/A
Control
No previous psychiatric history
40263685
40501493
237809
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-10106105795
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38282819
38383416
100598
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-1105102542
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-14710112915
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-15110112933
N/A
N/A
Control
Ethnicity: Hispanic
N/A
38248689
38329015
80327
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-23004100677
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38282819
38383416
100598
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-28706106413
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38282819
38383416
100598
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-29606106442
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38282819
38383392
100574
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-33006106538
N/A
N/A
Control
Ethnicity: Asian
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-3306105584
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38282819
38383392
100574
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-37906106748
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38282819
38383392
100574
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-38606106778
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38226396
38373423
147028
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-39306106798
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38282819
38373423
90605
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-45706106971
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38282819
38383416
100598
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-46806107025
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38226396
38350049
123654
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-53306107454
N/A
N/A
Control
Ethnicity: African American
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-9107107840
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
38282819
38350049
67231
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-9409110993
N/A
N/A
Control
Ethnicity: Caucasian
N/A
38187052
38350049
162998
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C28231
Control
40144901
40183729
38829
Unknown
Duplication
poultney_13_ASD_discovery_controls-control04C36576A
N/A
M
Control
NIMH Control (NIMH ID 91174)
37907477
37950398
42922
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C38820A
N/A
M
Control
NIMH Control (NIMH ID 21723)
38349782
38358979
9198
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11032.s1
3.7
M
Control (matched sibling)
NA
NA
38257544
38295919
38376
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11193.s1
4.8
F
Control (matched sibling)
NA
NA
42322179
42350334
28156
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11247.s1
4.7
F
Control (matched sibling)
NA
NA
37951315
37959246
7932
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11424.s1
6.8
F
Control (matched sibling)
NA
NA
38254513
38335609
81097
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
41251405
41266574
15170
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11510.s1
6.8
F
Control (matched sibling)
NA
NA
38234010
38258684
24675
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11581.s1
6.8
M
Control (matched sibling)
NA
NA
41766751
41772885
6135
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11654.s1
6.3
F
Control (matched sibling)
NA
NA
40400634
40437026
36393
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
38273422
38316944
43523
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12790.s1
8.9
F
Control (matched sibling)
NA
NA
40400634
40437026
36393
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
38241216
38261529
20314
GRCh38
Deletion
No
soueid_16_ASD_discovery_controls-control1
N/A
N/A
Control
38250697
38363006
112310
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case3-0781-000
No validation step reported
Maternal
ELMO1
brandler_18_ASD_replication_cases-caseAU4007302
No validation step reported
Maternal
GLI3
chehbani_22_ASD_discovery_cases-case95
Unknown
Simplex
MPLKIP,RN7SL496P,CDK13-DT,CDK13
chen_17_ASD_discovery_cases-caseU-1428
RT-qPCR
Paternal
SNORA20B,POU6F2-AS1,POU6F2
engchuan_15_ASD_discovery_cases-case1184_3
Unknown
LINC01449
engchuan_15_ASD_discovery_cases-case13004_53
Unknown
C7orf25,PSMA2,MRPL32,HECW1,HECW1-IT1
engchuan_15_ASD_discovery_cases-case14011_210
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGC2
engchuan_15_ASD_discovery_cases-case14072_1250
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGC2,TRG-AS1
engchuan_15_ASD_discovery_cases-case14186_3050
Unknown
TRGV11,TRGVB,TRGV10,TRGV9
engchuan_15_ASD_discovery_cases-case18095_301
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGC2
engchuan_15_ASD_discovery_cases-case3118_3
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGC2
engchuan_15_ASD_discovery_cases-case3508_3
Unknown
engchuan_15_ASD_discovery_cases-case3539_4
Unknown
THUMPD3P1,SUGCT
engchuan_15_ASD_discovery_cases-case3576_4
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGC2
engchuan_15_ASD_discovery_cases-case4008_1
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGC2,TRG-AS1
engchuan_15_ASD_discovery_cases-case4156_1
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGC2,TRG-AS1
engchuan_15_ASD_discovery_cases-case4336_1
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGC2
engchuan_15_ASD_discovery_cases-case4541_1
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,STARD3NL,TRGC2
engchuan_15_ASD_discovery_cases-case5090_3
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,STARD3NL,TRGC2
engchuan_15_ASD_discovery_cases-case5285_3
Unknown
SUGCT
engchuan_15_ASD_discovery_cases-case5302_4
Unknown
SUGCT
fan_18_DD/ID_discovery_cases-subject3
Unknown
Unknown
TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRG-AS1
gazzellone_14_ASD_discovery_cases-case611-3
Unknown
Unknown
Unknown
STARD3NL,NME8,SFRP4,EPDR1
girirajan_11_ASD_discovery_cases-Si208
Unknown
Simplex
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_11_ASD_discovery_cases-Si311
Unknown
Simplex
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_11_ASD_discovery_cases-Si7
Unknown
Simplex
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-12308109510
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-13107107988
Unknown
Unknown
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGC2
girirajan_13b_ASD_discovery_cases-13906105868
Unknown
Unknown
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,STARD3NL,TRGC2,TRG-AS1
girirajan_13b_ASD_discovery_cases-14909111141
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-1709110692
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-20708109930
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-21908109957
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-22307108194
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-2305102574
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-24705103861
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-28305103475
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-29008110245
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-29908110268
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-30708110281
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-3205102622
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-3309110754
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-33105103786
Unknown
Unknown
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGC2
girirajan_13b_ASD_discovery_cases-33608110351
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-34905104010
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-3508108947
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-35408110434
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-3605102633
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-40208110630
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-44106106924
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-47306107043
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRG-AS1,AMPH
girirajan_13b_ASD_discovery_cases-51206107184
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-59704102165
Unknown
Unknown
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGC2,TRG-AS1
girirajan_13b_ASD_discovery_cases-60504102200
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-60704102209
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-60705104612
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-62104102284
Unknown
Unknown
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGC2,TRG-AS1
girirajan_13b_ASD_discovery_cases-63104102826
Unknown
Unknown
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGC2,TRG-AS1
girirajan_13b_ASD_discovery_cases-63204102829
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRG-AS1
girirajan_13b_ASD_discovery_cases-63205104572
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-70104102471
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_cases-708108819
Unknown
Unknown
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,STARD3NL,TRGC2
girirajan_13b_ASD_discovery_cases-8205102886
Unknown
Unknown
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGC2,TRG-AS1
girirajan_13b_ASD_discovery_cases-8705102962
Unknown
Unknown
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,STARD3NL,TRGC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003889
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HMGN2P30,GLI3
leppa_16_ASD_discovery_cases-AU1811302
qPCR
De novo
Unknown
Possibly segregated
SUGCT
monteiro_19_ASD_discovery_cases_case8
De novo
CDK13
mosca_16_DCD_discovery_cases-case123604
qPCR
Paternal
Multi-generational
Possibly segregated
FAM183BP,VPS41
newbury_12_ASD/CAS_discovery_cases-case1
Unknown
Simplex
Unknown (common in DGV)
TRGJP,TRGJP1
pinto_10_ASD_discovery_cases-case1184_3
Illumina550;Affy5.0
maternal
NA
NA
LINC01449
pinto_10_ASD_discovery_cases-case5090_3
Agilent1M
De novo
NA
NA
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,STARD3NL,TRGC2
pinto_14_ASD_discovery_cases2-case3576_4
qPCR
De novo
Unknown
(not tested)
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGC2
poultney_13_ASD_discovery_cases-case04HI3540A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TRGV5,TRGV4,TRGV3,TRGV2,TRG-AS1
poultney_13_ASD_discovery_cases-case99HI1152A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TRGV3,TRGV2,TRG-AS1
prasad_12_ASD_discovery_cases-case46992
Unknown
Unknown
Unknown
C7orf10
prasad_12_ASD_discovery_cases-case47395
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case47828
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case50067
Unknown
Unknown
Unknown
CDK13
prasad_12_ASD_discovery_cases-case60576
Unknown
Unknown
Unknown
HECW1
prasad_12_ASD_discovery_cases-case60811
Unknown
Unknown
Unknown
C7orf10
prasad_12_ASD_discovery_cases-case67955-L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case67955-L
Unknown
Unknown
Unknown
HECW1
prasad_12_ASD_discovery_cases-case68160L
Unknown
Unknown
Unknown
HECW1
prasad_12_ASD_discovery_cases-case91547L
Unknown
Unknown
Unknown
C7orf10
sajan_13_ACC/CBLH/PMG_discovery_cases-case1070-0
Not tested by qPCR
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7
sajan_13_ACC/CBLH/PMG_discovery_cases-case1226-0
Not tested by qPCR
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8
sajan_13_ACC/CBLH/PMG_discovery_cases-case1545-0
Not tested by qPCR
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP95-030_LP
Not tested by qPCR
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-185
Not tested by qPCR
Unknown
Unknown
Unknown
SUGCT
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-371
Not tested by qPCR
Unknown
Unknown
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-128
Not tested by qPCR
Unknown
Unknown
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGC2
sanders_11_ASD_discovery_cases-11107.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGC2,TRG-AS1
sanders_11_ASD_discovery_cases-11193.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11394.p1
Unknown
Simplex (trio)
NA
TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10
sanders_11_ASD_discovery_cases-11470.p1
Maternal
Simplex (quad-proband matched)
Segregated
TRGJP2,TRGC1
sanders_11_ASD_discovery_cases-11516.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
TRGJP2,TRGC1,TRGJ1
sanders_11_ASD_discovery_cases-11522.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8
sanders_11_ASD_discovery_cases-11581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
INHBA-AS1
sanders_11_ASD_discovery_cases-11654.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SUGCT
sanders_11_ASD_discovery_cases-11710.p1
Paternal
Simplex (trio)
NA
NME8,EPDR1
sanders_11_ASD_discovery_cases-11793.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRGJP2,TRGC1
sanders_11_ASD_discovery_cases-11913.p1
Unknown
Simplex (quad-proband matched)
Segregated
TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB
sanders_11_ASD_discovery_cases-11919.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8
sanders_11_ASD_discovery_cases-11942.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CDK13
sanders_11_ASD_discovery_cases-11977.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TRGV9
sanders_11_ASD_discovery_cases-12015.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRGJP2,TRGC1
sanders_11_ASD_discovery_cases-12233.p1
Both parents
Simplex (quad-proband matched)
Segregated
TRGJP2,TRGC1
sanders_11_ASD_discovery_cases-12366.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB
sanders_11_ASD_discovery_cases-12651.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRG-AS1
soueid_16_ASD_discovery_cases-caseBAK40
De novo
Simplex
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRG-AS1
soueid_16_DD/ID_discovery_cases-case1
Unknown
Unknown
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRG-AS1
yin_16_ASD_discovery_cases-case261
Unknown
Unknown
Unknown
POU6F2
yin_16_ASD_discovery_cases-case262
Unknown
Unknown
Unknown
SNORA20B,POU6F2-AS1,POU6F2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036015915_
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRGC2,TRG-AS1
engchuan_15_ASD_discovery_controls-control110036017424_
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRGC2,TRG-AS1
engchuan_15_ASD_discovery_controls-control110036022325_
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRGC2,TRG-AS1
engchuan_15_ASD_discovery_controls-control110036023398_
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRGC2,TRG-AS1
engchuan_15_ASD_discovery_controls-controlB501678_1007872289
Unknown
MPLKIP,CDK13,SUGCT
engchuan_15_ASD_discovery_controls-controlB999332_1007870352
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGC2
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
Unknown
THUMPD3P1,SUGCT
engchuan_15_ASD_discovery_controls-controlHABC_900361_900361
Unknown
CDK13
engchuan_15_ASD_discovery_controls-controlHABC_900541_900541
Unknown
THUMPD3P1,SUGCT
engchuan_15_ASD_discovery_controls-controlHABC_900845_900845
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGC2
engchuan_15_ASD_discovery_controls-controlHABC_902521_902521
Unknown
MPLKIP,THUMPD3P1,CDK13,SUGCT
engchuan_15_ASD_discovery_controls-controlHABC_902606_902606
Unknown
SUGCT
girirajan_13b_ASD_discovery_controls-10106105795
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRG-AS1
girirajan_13b_ASD_discovery_controls-1105102542
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_controls-14710112915
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_controls-15110112933
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGC2
girirajan_13b_ASD_discovery_controls-23004100677
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRG-AS1
girirajan_13b_ASD_discovery_controls-28706106413
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRG-AS1
girirajan_13b_ASD_discovery_controls-29606106442
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRG-AS1
girirajan_13b_ASD_discovery_controls-33006106538
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_controls-3306105584
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRG-AS1
girirajan_13b_ASD_discovery_controls-37906106748
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRG-AS1
girirajan_13b_ASD_discovery_controls-38606106778
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,STARD3NL,TRGC2,TRG-AS1
girirajan_13b_ASD_discovery_controls-39306106798
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRG-AS1
girirajan_13b_ASD_discovery_controls-45706106971
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRGV1,TRG-AS1
girirajan_13b_ASD_discovery_controls-46806107025
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,STARD3NL,TRGC2,TRG-AS1
girirajan_13b_ASD_discovery_controls-53306107454
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_controls-9107107840
Unknown
TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRG-AS1
girirajan_13b_ASD_discovery_controls-9409110993
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,STARD3NL,TRGC2,TRG-AS1
nord_11_ASD_discovery_controls-04C28231
C7orf10
poultney_13_ASD_discovery_controls-control04C36576A
Unknown
SFRP4,EPDR1
poultney_13_ASD_discovery_controls-control05C38820A
Unknown
TRGV5,TRGV4,TRGV3,TRG-AS1
sanders_11_ASD_discovery_controls-11032.s1
Unknown
Simplex (quad)
NA
TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB
sanders_11_ASD_discovery_controls-11193.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11247.s1
Unknown
Simplex (quad)
NA
SFRP4,EPDR1
sanders_11_ASD_discovery_controls-11424.s1
Unknown
Simplex (quad)
NA
TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7
sanders_11_ASD_discovery_controls-11440.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11510.s1
Paternal
Simplex (quad)
NA
TRGJ2,TRGJP2,TRGC1,TRGC2
sanders_11_ASD_discovery_controls-11581.s1
Maternal
Simplex (quad)
NA
INHBA-AS1
sanders_11_ASD_discovery_controls-11654.s1
Maternal
Simplex (quad)
NA
SUGCT
sanders_11_ASD_discovery_controls-12650.s1
Unknown
Simplex (quad)
NA
TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10
sanders_11_ASD_discovery_controls-12790.s1
Maternal
Simplex (quad)
NA
SUGCT
sanders_11_ASD_discovery_controls-12832.s1
Paternal
Simplex (quad)
NA
TRGJ2,TRGJP2,TRGC1,TRGC2
soueid_16_ASD_discovery_controls-control1
Unknown
TRGJ2,TRGJP2,TRGC1,TRGJ1,TRGJP,TRGJP1,TRGV11,TRGVB,TRGV10,TRGV9,TRGVA,TRGV8,TRGV7,TRGV6,TRGV5P,TRGV5,TRGV4,TRGV3,TRGV2,TRG-AS1
No Animal Model Data Available