3p24.3CNV Type: Deletion-Duplication
Largest CNV size: 512302 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
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-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
561000
0
1
1
ching_10_ASD/DD/MR_discovery_cases
Subjects referred to Children's Hospital Boston from March 2007 to Jan. 2009
3540
Developmental disorders [autism spectrum disorders (ASD), developmental delay (DD), and/or mental retardation (MR)] or multiple congenital malformations
314000
1
0
1
den_Hoed_21_ASD/DD/ID_discovery_cases
Individuals with SATB1 variants recruited through international collaborations
42
Developmental delay (35/36 cases, 97%), intellectual disability (28/31, 90%), behavioral disturbances including autism spectrum disorder (24/34, 71%), and epilepsy (22/36, 61%) were frequently observed in cases.
Age at last examination range, 8 mos.-41 yrs.
46.15% Male
1053663
2
0
2
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
103168
1
0
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
512301
7
18
25
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
14691
1
0
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
347406
0
1
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
122829
2
0
2
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
27471
1
0
1
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
4498299
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
56445
1
0
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
13720
1
0
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
40000
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
40378
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
512302
2
1
3
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
1422212
3
1
4
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
105538
22
9
31
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
154300
1
1
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
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
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
430512
3
13
16
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
NA
NA
NA
NA
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
144963
1
0
1
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.
0
0
0
0
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)
1422212
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.
148973
16
9
25
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
154300
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
ching_10_ASD/DD/MR_discovery_cases
aCGH
Agilent 244K
ADM-2
Agilent Feature Extraction V9.0, Agilent CGH Analytics V3.4
None
den_Hoed_21_ASD/DD/ID_discovery_cases
NA
aCGH, array SNP
Agilent 180K, Affymetrix Cytoscan HD
qPCR, WES
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
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
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
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
chen_17_ASD_discovery_cases-caseU-925
N/A
M
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 13 (past score 28); Qualitative abnormalities in verbal and nonverbal communication, current score 10 (past score 16); Qualitative abnormalities in nonverbal communication, current score 3 (past score 8); Restricted, repetitive, and stereotyped patterns of behaviour, current score 5 (past score 7); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 104; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 29. Epilepsy: no history of epilepsy.
Performance IQ 95, Verbal IQ 109, Full-scale IQ 103
19242123
19803162
561040
GRCh38
Duplication
Yes
ching_10_ASD/DD/MR_discovery_cases-case8
11 yrs.
F
Mental retardation
Expressive & receptive language delay. Behavioral features: inattention, fidgety, disorganized. Dysmorphic features: long face, malar hypoplasia, prominent tubular nose with pointed nasal tip, hypoplastic alae nase, long flat philtrum, thin vermilion, prominent chin, long slender fingers, thin toes.
Mental retardation. WISC-IV: Verbal Comprehension Index, 67; Perceptual Reasoning Index, 63; Working Memory Index, 59; Processing Speed Index, 75; Full-scale IQ, 58 (testing at 11 yrs.)
21476268
21790328
314061
GRCh38
Deletion
No
den_Hoed_21_ASD/DD/ID_discovery_cases-case1
7 yrs.
M
ASD and developmental delay
Developmental milestones: developmental delay, mild motor delay, delayed ability to walk (18 months), speech delay. Behavioral/psychiatric evaluation: anxiety, ASD. Additional medical history: drooling, recurrent otitis media.
Learning difficulties
17873669
18927331
1053663
GRCh38
Deletion
No
den_Hoed_21_ASD/DD/ID_discovery_cases-case2
9 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: delivery by caesarean section. Developmental milestones: developmental delay, motor delay, delayed ability to walk (2-3 years), speech delay (expressive language delay with first words at 3 years). Motor and musculoskeletal evaluation: hypotonia at 1 year of age (since resolved); diastasis recti. Behavioral/psychiatric evaluation: aggressive behavior, anxiety, sleep disturbance (problems falling asleep). Dysmorphic features: prominent forehead, telecanthus, broad nasal root and tip, curved lips. Family history: this deletion arose de novo in her father, who was healthy and cognitive normal but presented with psychological problems, but otherwise family history was negative.
Intellectual disability (IQ 65 at 6 years and 52 at 8 years)
18335373
18391012
55640
GRCh38
Deletion
Yes
egger_14_ASD_discovery_cases-caseA200
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
17638725
17741892
103168
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13065_773
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14089_1530
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21200444
21304147
103704
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14143_2410
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14382_4950
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14417_5260
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21131649
21199656
68008
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20043_1258001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21016_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3140_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3174_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19904565
20080336
175772
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case3218_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17353123
17445151
92029
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3569_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22515664
22567421
51758
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4142_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4310_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4372_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5065_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17477561
17525728
48168
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)
16215170
16403074
187905
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5220_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19111502
19623803
512302
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case5341_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22237005
22302080
65076
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5451_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17353123
17445151
92029
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5543_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5558_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6332_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20389440
20459976
70537
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8549_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23330408
23675281
344874
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8589_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8630_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19638916
19700529
61614
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000030
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S36
N/A
16477051
16491742
14692
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1523304
Autism
15165591
15512996
347406
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case528-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
21997959
22061654
63696
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case690-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
19631372
19754201
122830
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient3
4 yrs.
M
ASD
Neurodevelopmental abnormalities: autism. Urological abnormalities: none reported. Other features: no dysmorphic features. Growth parameters: height 75th %ile, weight 75th %ile.
23220930
23248401
27472
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004939
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18253476
20137057
1883582
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005239
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18179713
22678013
4498301
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12336.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17372074
17428519
56446
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0122
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
20059030
20072749
13720
GRCh38
Deletion
Yes
napoli_17_ASD_discovery_cases-case3
N/A
F
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XX
23334313
23374585
40273
GRCh38
Deletion
Yes
nord_11_ASD_discovery_cases-206-1
ASD
17439361
17479738
40378
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case3174_003
NA
M
Autism
Language delay, some gross and fine motor coordination difficulties, no dysmorphic features or associated medical or psychiatric problems, no epilepsy. Brother with 16p12.1 CNV: Autism, low average IQ, language delay, some mild dysmorphic facial features, no epilepsy
Low average IQ
19904565
20080336
175772
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5065_3
NA
M
Autism
Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
Below average nonverbal IQ (<1%ile)
17477561
17525728
48168
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5220_3
NA
F
ASD
No language delay, no epilepsy; born with asymmetric head, fontanelle closed at age 4 y; dysmorphic features
Average IQ
19111502
19623803
512302
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case60836
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
17489235
17546548
57314
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case76222
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
18952987
18974361
21375
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case85179L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
15114173
16536384
1422212
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case94755
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
19100800
19640381
539582
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11071.p1
13.9
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
21215817
21304147
88331
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11092.p1
13.1
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 108
21215817
21304147
88331
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11107.p1
6.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 37; verbal IQ, 25
15948724
15970201
21478
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11164.p1
7.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 107; verbal IQ, 89
21215817
21304147
88331
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11165.p1
5.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
17112238
17134100
21863
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11290.p1
11.3
M
ASD
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 115
20951876
20953465
1590
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11440.p1
8.2
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
20346613
20361701
15089
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11480.p1
7.9
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 41; verbal IQ, 24
21204187
21278626
74440
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11497.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
20263740
20271525
7786
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
17391891
17497429
105539
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11714.p1
6.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
20510546
20546080
35535
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11860.p1
6
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
21783586
21798379
14794
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11939.p1
7.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
22419545
22453612
34068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11963.p1
6.1
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 90; verbal IQ, 104
21677056
21681208
4153
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
17120076
17134100
14025
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
20951876
20953465
1590
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12028.p1
9.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
20897641
20905491
7851
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12071.p1
11.7
F
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
22039669
22058294
18626
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12114.p1
16.7
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123
21215817
21304147
88331
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
20951876
20953465
1590
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12336.p1
4.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 132; verbal IQ, 104
17353123
17448409
95287
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12350.p1
11.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
17908535
17922492
13958
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12507.p1
18
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 73; verbal IQ, 100
21215817
21304147
88331
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12561.p1
5.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
21215817
21304147
88331
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12729.p1
17
F
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 80; verbal IQ, 70
22570888
22582888
12001
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12790.p1
7.9
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
23716050
23728642
12593
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
20951876
20953465
1590
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
21215817
21304147
88331
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13053.p1
4.6
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
23192099
23256088
63990
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
17907737
17918134
10398
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13193.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
17120076
17126529
6454
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case98
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
19283984
19354961
70978
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case99
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
23265605
23419904
154300
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-control110036024719_
N/A
N/A
Control
No previous psychiatric history
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB264147_1007873345
N/A
N/A
Control
No previous psychiatric history
22521953
22568038
46086
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB412301_1007874436
N/A
N/A
Control
No previous psychiatric history
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB445877_1007854331
N/A
N/A
Control
No previous psychiatric history
21209827
21304147
94321
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB650197_1007854049
N/A
N/A
Control
No previous psychiatric history
19418085
19769770
351686
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB881240_1007875262
N/A
N/A
Control
No previous psychiatric history
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
N/A
N/A
Control
No previous psychiatric history
21742519
22173031
430513
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900118_900118
N/A
N/A
Control
No previous psychiatric history
21215817
21310145
94329
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900303_900303
N/A
N/A
Control
No previous psychiatric history
22990734
23134376
143643
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900304_900304
N/A
N/A
Control
No previous psychiatric history
17413693
17554844
141152
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900439_900439
N/A
N/A
Control
No previous psychiatric history
23343288
23675281
331994
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900501_900501
N/A
N/A
Control
No previous psychiatric history
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900589_900589
N/A
N/A
Control
No previous psychiatric history
17287017
17384022
97006
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900615_900615
N/A
N/A
Control
No previous psychiatric history
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901167_901167
N/A
N/A
Control
No previous psychiatric history
21215817
21304147
88331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901194_901194
N/A
N/A
Control
No previous psychiatric history
21220857
21304147
83291
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12197.s1
NA
F
Control
NA
NA
17433200
17578162
144963
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
21215817
21304147
88331
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11092.s1
10.5
F
Control (matched sibling)
NA
NA
21215817
21304147
88331
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11142.s1
4.5
F
Control (matched sibling)
NA
NA
18197551
18206474
8924
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11146.s1
9.7
M
Control (matched sibling)
NA
NA
20736258
20756722
20465
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11164.s1
5.4
F
Control (matched sibling)
NA
NA
21215817
21292354
76538
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
20346613
20352408
5796
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11480.s1
13.8
F
Control (matched sibling)
NA
NA
21215817
21296966
81150
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11484.s1
14.4
M
Control (matched sibling)
NA
NA
21196314
21224048
27735
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11622.s1
11.1
F
Control (matched sibling)
NA
NA
17907737
17918134
10398
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
20951876
20953465
1590
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
21783586
21796184
12599
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11939.s1
12.4
M
Control (matched sibling)
NA
NA
22419545
22453612
34068
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
17120076
17134100
14025
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
22539890
22545531
5642
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12071.s1
19.6
M
Control (matched sibling)
NA
NA
22039669
22050715
11047
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12086.s1
25.2
M
Control (matched sibling)
NA
NA
17315583
17339888
24306
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12197.s1
5.8
F
Control (matched sibling)
NA
NA
17431854
17580827
148974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12329.s1
6.3
M
Control (matched sibling)
NA
NA
21217702
21296966
79265
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12369.s1
4.2
F
Control (matched sibling)
NA
NA
17908535
17918134
9600
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12507.s1
26.1
F
Control (matched sibling)
NA
NA
21215817
21304147
88331
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12523.s1
4
F
Control (matched sibling)
NA
NA
21215817
21296966
81150
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12729.s1
13.5
M
Control (matched sibling)
NA
NA
22570888
22582888
12001
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
17120076
17134100
14025
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13072.s1
8.7
F
Control (matched sibling)
NA
NA
17120076
17134100
14025
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
17120076
17134100
14025
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_cases-caseU-925
RT-qPCR
Paternal
MIR4791,KCNH8
ching_10_ASD/DD/MR_discovery_cases-case8
Maternal
Unknown
Unknown
ZNF385D-AS1,ZNF385D
den_Hoed_21_ASD/DD/ID_discovery_cases-case1
De novo
Simplex
RAD23BP1,PDCL3P3,SATB1-AS1,SATB1,TBC1D5
den_Hoed_21_ASD/DD/ID_discovery_cases-case2
qPCR, WES
Paternal
Simplex
SATB1,TBC1D5
egger_14_ASD_discovery_cases-caseA200
Unknown
Unknown
RNU7-10P,TBC1D5
engchuan_15_ASD_discovery_cases-case13065_773
Unknown
engchuan_15_ASD_discovery_cases-case14089_1530
Unknown
engchuan_15_ASD_discovery_cases-case14143_2410
Unknown
engchuan_15_ASD_discovery_cases-case14382_4950
Unknown
engchuan_15_ASD_discovery_cases-case14417_5260
Unknown
SGO1-AS1
engchuan_15_ASD_discovery_cases-case20043_1258001
Unknown
engchuan_15_ASD_discovery_cases-case21016_1
Unknown
engchuan_15_ASD_discovery_cases-case3140_3
Unknown
engchuan_15_ASD_discovery_cases-case3174_3
De novo
HSPA8P18,RNU4-85P,SAP18P3,RPL39P18,RAB5A,PP2D1,KAT2B,EFHB
engchuan_15_ASD_discovery_cases-case3218_3
Unknown
TBC1D5
engchuan_15_ASD_discovery_cases-case3569_3
Unknown
engchuan_15_ASD_discovery_cases-case4142_1
Unknown
engchuan_15_ASD_discovery_cases-case4310_1
Unknown
engchuan_15_ASD_discovery_cases-case4372_1
Unknown
engchuan_15_ASD_discovery_cases-case5065_3
Unknown
TBC1D5
engchuan_15_ASD_discovery_cases-case5122_3
Unknown
DPH3,GALNT15,OXNAD1,RFTN1
engchuan_15_ASD_discovery_cases-case5220_3
De novo
MIR4791,KCNH8
engchuan_15_ASD_discovery_cases-case5341_3
Unknown
ZNF385D
engchuan_15_ASD_discovery_cases-case5451_3
Unknown
TBC1D5
engchuan_15_ASD_discovery_cases-case5543_3
Unknown
engchuan_15_ASD_discovery_cases-case5558_4
Unknown
engchuan_15_ASD_discovery_cases-case6332_3
Unknown
SGO1-AS1
engchuan_15_ASD_discovery_cases-case8549_201
Unknown
RNU6-922P,RNU6-788P,UBE2E2
engchuan_15_ASD_discovery_cases-case8589_201
Unknown
engchuan_15_ASD_discovery_cases-case8630_201
Unknown
fitzgerald_14_ASD/DD/ID_discovery_cases-case000030
De novo
Unknown
Unknown
RFTN1
gai_11_ASD_discovery_cases-AU1523304
Inherited
DVWA, CAPN7, SH3BP5, SH3BP5, METTL6, EAF1, COLQ
gazzellone_14_ASD_discovery_cases-case528-3
Unknown
Unknown
Unknown
ZNF385D
gazzellone_14_ASD_discovery_cases-case690-3
Unknown
Unknown
Unknown
handrigan_13_ASD/DD/ID_discovery_cases-patient3
Unknown
Unknown
Unknown
UBE2E2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004939
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RAD23BP1,RNU6-138P,MIR4791,HSPA8P18,RNU4-85P,SAP18P3,RPL39P18,RAB5A,PP2D1,SATB1,KCNH8,KAT2B,TBC1D5,SATB1-AS1,EFHB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005239
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RAD23BP1,RNU6-138P,MIR4791,HSPA8P18,RNU4-85P,SAP18P3,RPL39P18,MIR3135A,RNU6-822P,RNU6-815P,VENTXP7,HMGB1P5,RAB5A,PP2D1,ZNF385D-AS1,ZNF385D-AS2,SATB1,KCNH8,KAT2B,SGO1,TBC1D5,SATB1-AS1,EFHB,SGO1-AS1,ZNF385D
krumm_15_ASD_discovery_cases-case12336.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TBC1D5
kushima_22_SCZ_discovery_cases-caseSCZ0122
qRT-PCR
Unknown
KAT2B
napoli_17_ASD_discovery_cases-case3
RT-PCR
Unknown
UBE2E2
nord_11_ASD_discovery_cases-206-1
Maternal
TBC1D5
pinto_10_ASD_discovery_cases-case3174_003
Agilent1M
De novo
Multiplex
Not segregated
HSPA8P18,RNU4-85P,SAP18P3,RPL39P18,RAB5A,PP2D1,KAT2B,EFHB
pinto_10_ASD_discovery_cases-case5065_3
Agilent1M
maternal
Multiplex
Unknown
TBC1D5
pinto_10_ASD_discovery_cases-case5220_3
qPCR, Agilent 1M
De novo
NA
NA
MIR4791,KCNH8
prasad_12_ASD_discovery_cases-case60836
Unknown
Unknown
Unknown
TBC1D5
prasad_12_ASD_discovery_cases-case76222
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case85179L
Unknown
Unknown
Unknown
OXNAD1,ZFYVE20,EAF1,HACL1,GALNTL2,METTL6,COLQ,CAPN7,SH3BP5,RFTN1,DPH3,MIR563,MIR4270,COL6A4P1,BTD,ANKRD28
prasad_12_ASD_discovery_cases-case94755
Unknown
Unknown
Unknown
KCNH8
sanders_11_ASD_discovery_cases-11071.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11092.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11107.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11164.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11165.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11290.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SGO1-AS1
sanders_11_ASD_discovery_cases-11440.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SGO1-AS1
sanders_11_ASD_discovery_cases-11480.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11497.p1
Unknown
Simplex (quad-proband matched)
Segregated
RNU6-822P,SGO1-AS1
sanders_11_ASD_discovery_cases-11710.p1
Unknown
Simplex (trio)
NA
TBC1D5
sanders_11_ASD_discovery_cases-11714.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SGO1-AS1
sanders_11_ASD_discovery_cases-11860.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF385D
sanders_11_ASD_discovery_cases-11939.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11963.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ZNF385D
sanders_11_ASD_discovery_cases-11964.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11996.p1
Both parents
Simplex (trio)
NA
SGO1-AS1
sanders_11_ASD_discovery_cases-12028.p1
Paternal
Simplex (trio)
NA
SGO1-AS1
sanders_11_ASD_discovery_cases-12071.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF385D
sanders_11_ASD_discovery_cases-12114.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12198.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SGO1-AS1
sanders_11_ASD_discovery_cases-12336.p1
Paternal
Simplex (trio)
NA
TBC1D5
sanders_11_ASD_discovery_cases-12350.p1
Unknown
Simplex (trio)
NA
TBC1D5
sanders_11_ASD_discovery_cases-12507.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12561.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12729.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12790.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12851.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SGO1-AS1
sanders_11_ASD_discovery_cases-13016.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13053.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UBE2E2-AS1,UBE2E2
sanders_11_ASD_discovery_cases-13183.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TBC1D5
sanders_11_ASD_discovery_cases-13193.p1
Unknown
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case98
Unknown
Unknown
Unknown
MIR4791,KCNH8
yin_16_ASD_discovery_cases-case99
Unknown
Unknown
Unknown
UBE2E2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036024719_
Unknown
engchuan_15_ASD_discovery_controls-controlB264147_1007873345
Unknown
engchuan_15_ASD_discovery_controls-controlB412301_1007874436
Unknown
engchuan_15_ASD_discovery_controls-controlB445877_1007854331
Unknown
engchuan_15_ASD_discovery_controls-controlB650197_1007854049
Unknown
KCNH8
engchuan_15_ASD_discovery_controls-controlB881240_1007875262
Unknown
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
Unknown
ZNF385D-AS2,ZNF385D
engchuan_15_ASD_discovery_controls-controlHABC_900118_900118
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900303_900303
Unknown
SALL4P5,RPL24P7
engchuan_15_ASD_discovery_controls-controlHABC_900304_900304
Unknown
TBC1D5
engchuan_15_ASD_discovery_controls-controlHABC_900439_900439
Unknown
RNU6-922P,RNU6-788P,UBE2E2
engchuan_15_ASD_discovery_controls-controlHABC_900501_900501
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900589_900589
Unknown
TBC1D5
engchuan_15_ASD_discovery_controls-controlHABC_900615_900615
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901167_901167
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901194_901194
Unknown
levy_11_ASD_discovery_controls-12197.s1
Paternal
Simplex
NA
TBC1D5
sanders_11_ASD_discovery_controls-11071.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11092.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11142.s1
Maternal
Simplex (quad)
NA
TBC1D5
sanders_11_ASD_discovery_controls-11146.s1
Paternal
Simplex (quad)
NA
SGO1-AS1
sanders_11_ASD_discovery_controls-11164.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11440.s1
Maternal
Simplex (quad)
NA
SGO1-AS1
sanders_11_ASD_discovery_controls-11480.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11484.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11622.s1
Unknown
Simplex (quad)
NA
TBC1D5
sanders_11_ASD_discovery_controls-11775.s1
Maternal
Simplex (quad)
NA
SGO1-AS1
sanders_11_ASD_discovery_controls-11860.s1
Paternal
Simplex (quad)
NA
ZNF385D
sanders_11_ASD_discovery_controls-11939.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11964.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12052.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12071.s1
Paternal
Simplex (quad)
NA
ZNF385D
sanders_11_ASD_discovery_controls-12086.s1
Both parents
Simplex (quad)
NA
TBC1D5
sanders_11_ASD_discovery_controls-12197.s1
Paternal
Simplex (quad)
NA
TBC1D5
sanders_11_ASD_discovery_controls-12329.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12369.s1
Unknown
Simplex (quad)
NA
TBC1D5
sanders_11_ASD_discovery_controls-12507.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12523.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12729.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12939.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13072.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13136.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available