7p22.3CNV Type: Deletion-Duplication
Largest CNV size: 1100000 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental 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
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
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Deletion
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
435000
0
1
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
1100000
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
375000
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
269328
0
18
18
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
1236341
0
2
2
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
661910
1
1
2
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
863039
0
1
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
1700478
3
1
4
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
134266
1
0
1
panigrahi_24_ASD/DD/ID_discovery_cases
Patients seen in the Genetic Clinic of a tertiary care center in India in the last six years and screened for chromosomal duplication syndromes.
32
Neurodevelopmental phenotypes observed in individuals from this cohort included autism spectrum disorder (ASD), developmental delay (DD), and intellectual disability (ID).
Age of diagnosis range, 4 mos.-14 yrs. (median 3 yrs.)
78.125% Male
788356
0
1
1
peycheva_18_ID/EP_discovery_cases
Patients referred by clinicians from major neurologic clinics in Bulgaria (47 cases with positive family history for developmental delay/intellectual disability and/or seizures, 45 sporadic cases)
92
Cases primarily presented with intellectual disability (99%) and epilepsy/seizures (96%), with some exhibiting behavioral abnormalities (43%), dysmorphic features (52%), delayed or absent speech (45%), microcephaly (15%), motor disorders (37%), and brain structural abnormalities (31%)
Range, 1-22 years
54.35% Male
925000
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
121789
0
1
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)
402145
0
1
1
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
20372
2
0
2
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
186163
1
2
3
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
0
0
0
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
126880
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
126879
19
46
65
vulto-van_silfhout_12_ASD_discovery_cases
First child of healthy, non-consanguineous parents referred to Dept. of Human Genetics, Radboud Univ. Nijmegen Medical Centre (Nijmegen, the Netherlands) due to Asperger syndrome and chronic fatigue.
1
Asperger syndrome
14 yrs.
Male
380000
0
1
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
434656
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
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
1100000
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
296937
3
23
26
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
109516
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
106747
0
2
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
96475
1
0
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)
134748
1
0
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
20372
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.
126879
17
43
60
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
434656
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
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_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
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
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
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
panigrahi_24_ASD/DD/ID_discovery_cases
India
Array SNP
Affymetrix CytoScan 750K
peycheva_18_ID/EP_discovery_cases
Bulgarian
aCGH
Agilent SurePrint G3 Human CGH Microarray Kit, Agilent 4x180K, Agilent SurePrint G3 Unrestricted CGH ISCA v2 4x180K
Agilent Feature Extraction v12.0.1.1, OGT Cytosure Interpret v4.3
qPCR
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
vulto-van_silfhout_12_ASD_discovery_cases
Netherlands
Array SNP
Affymetrix 250K SNP array
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
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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-754
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 11 (past score 11); Qualitative abnormalities in verbal and nonverbal communication, current score 3 (past score 8); Qualitative abnormalities in nonverbal communication, current score 0 (past score 4); Restricted, repetitive, and stereotyped patterns of behaviour, current score 4 (past score 6); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 48; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 3. Epilepsy: no history of epilepsy.
Performance IQ 74, Verbal IQ 89, Full-scale IQ 80
1164205
1598860
434656
GRCh38
Duplication
Yes
christian_08_ASD_discovery_cases-AU038503
NA
F
ASD
NA
NA
43902
1258274
1214373
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_301269
N/A
F
Developmental delay/intellectual disability
955908
1331046
375139
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1265_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10574
36222
25649
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14028_530
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1419295
1564684
145390
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14342_4560
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1948_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2190_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3612_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3617_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4144_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4166_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5039_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10574
36222
25649
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5286_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
46239
168027
121789
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5289_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5438_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5508_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6023_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
178062
134161
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6323_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43902
149765
105864
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6323_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
163185
521433
358249
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8587_210
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
953537
1020652
67116
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU038503
Autism
140736
1295233
1154498
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU038504
Autism
140736
1377076
1236341
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case632-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
1129983
1153011
23029
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case682-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
43361
665634
622274
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case22
1 yr 11 mos.
M
Developmental delay
Congenital heart disease (long QT syndrome). Karyotype: 9phqh, 22ps.
Severe developmental delay
1073145
1936184
863040
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000719
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
101528
227833
126306
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001222
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
54185
1843584
1789400
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001263
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
170366
227833
57468
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002639
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
54185
1441125
1386941
GRCh38
Deletion
Yes
li_18_ASD_discovery_cases-case5801
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
2392332
2526599
134268
GRCh38
Deletion
No
panigrahi_24_ASD/DD/ID_discovery_cases-case21
8 mos.
M
Developmental delay
Developmental delay.
43377
831732
788356
GRCh38
Duplication
No
peycheva_18_ID/EP_discovery_cases-case385
2 yrs.
F
ID and epilepsy
Language and communication evaluation: delayed speech. Motor and musculoskeletal evaluation: inability to walk independently. Behavioral/psychiatric evaluation: hyperactivity, motor stereotypies. Epilepsy/seizures: generalized tonic-clonic seizures, myoclonic seizures. Brain imaging: moderate fronto-temporo-parietal cortex atrophy, extended lateral ventricles, and increased volume of right cella media on brain CT. Dysmorphic features: lower limb hypopigmentation.
Severe intellectual disability
83325
969074
885750
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5286_3
NA
M
Autism
Below average language (1%ile), no epilepsy, no dysmorphic features
Below average nonverbal IQ (4%ile)
46239
168027
121789
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case99HI0802A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
2256872
2659017
402146
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case45551
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
1753906
1774277
20372
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseL879
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
1200232
1214612
14381
Unknown
Deletion
No
rosenfeld_10_ASD_discovery_cases-case11977
NA
NA
ASD
NA
NA
797377
887448
90071
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case17009
NA
NA
ASD
NA
NA
124996
292633
167637
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case21865
NA
NA
ASD
NA
NA
106470
292633
186163
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-337
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
37124
164003
126880
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11004.p1
15.8
M
ASD
NA
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11029.p1
9.3
F
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 36; verbal IQ, 21
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
222809
232258
9450
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
44935
68920
23986
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
68180
135566
67386
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11051.p1
12.2
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 114
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11121.p1
10.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11172.p1
15.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11176.p1
12.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11201.p1
8.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 78; verbal IQ, 44
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11216.p1
4.7
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11267.p1
13.2
F
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11282.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 83
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11350.p1
9.1
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11355.p1
8.8
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
44935
68920
23986
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11378.p1
9.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
152640
155066
2427
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11464.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11471.p1
13.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 89; verbal IQ, 31
1198506
1206394
7889
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11479.p1
6
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11483.p1
9.9
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 80; verbal IQ, 89
37124
164003
126879
NCBI36
Duplication
No
sanders_11_ASD_discovery_cases-11512.p1
5.7
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
152640
155066
2427
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11521.p1
17.1
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 101; verbal IQ, 128
1844463
1852673
8211
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11551.p1
15.5
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
64201
129376
65176
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11617.p1
15.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
45653
68920
23268
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11627.p1
5.7
M
ASD
NA
Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83
1541285
1557744
16460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11653.p1
4.5
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
50257
68920
18664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11700.p1
6.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 80
152640
155066
2427
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
57660
68920
11261
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
1942038
1952755
10718
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11938.p1
4.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
152640
155066
2427
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11966.p1
13.2
M
Autism
NA
Full-scale IQ, 32; non-verbal IQ, 35; verbal IQ, 26
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
45653
68920
23268
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
918856
924337
5482
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12011.p1
7.9
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
44935
68920
23986
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12028.p1
9.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
44408
68920
24513
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12068.p1
12.5
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 26
44935
68920
23986
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12152.p1
8.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
44408
65765
21358
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12170.p1
7.8
F
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
44408
68920
24513
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12192.p1
6.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 130; verbal IQ, 115
44935
68920
23986
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12197.p1
5.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
44935
68920
23986
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12197.p1
5.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
1198506
1206394
7889
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
44935
68920
23986
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12265.p1
6.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78
50257
71276
21020
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12296.p1
15.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 88; verbal IQ, 52
44408
68920
24513
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12300.p1
7.3
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 102
143426
155066
11641
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12327.p1
14.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 108; verbal IQ, 83
963411
966937
3527
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
43902
67820
23919
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12492.p1
15.4
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 30; verbal IQ, 19
45653
68920
23268
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12494.p1
7.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
1942038
1952755
10718
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12555.p1
16.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
50257
71276
21020
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12572.p1
14.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
152640
155066
2427
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12582.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
44408
65765
21358
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12591.p1
4.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 69
50257
68920
18664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12596.p1
4.9
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
152640
155066
2427
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12671.p1
12.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
53998
68920
14923
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
44935
65765
20831
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12902.p1
14.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 114; verbal IQ, 123
50257
71276
21020
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
53998
68920
14923
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12961.p1
4.4
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
1706713
1719212
12500
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12989.p1
7.1
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
44408
71276
26869
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
44408
71276
26869
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13301.p1
13.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
44408
68920
24513
GRCh38
Duplication
No
vulto-van_silfhout_12_ASD_discovery_cases-case1
14 yrs.
M
Asperger syndrome
Diagnosis of Asperger syndrome at age of 6 years. Birth/neonatal history: uneventful pregnancy; delivery at 40 weeks of gestation with weight of 3220 g (30th %ile). Developmental milestones: normal development; sitting at 5.5 months of age, walking at 1 year of age, first words appropriate for age. Motor and musculoskeletal evaluation: chronic fatigue at 12 years, also complained as myalgia and pain in legs; normal muscle strength despite poor physical condition. Behavioral/psychiatric evaluation: behavioral problems evident before age of 6 years; obsessive behavioral patterns (repeated on and off switching of lights and hiding of keys); often rocked back and forth; difficulty adjusting to unexpected situations. Sleep disturbances: none. Visual and auditory evaluation: normal. Dysmorphic features: broad nasal base. Growth parameters: length of 186 cm (98th %ile), weight of 95 kg (+2.5 SD), head circumference of 61 cm (98th %ile). Family history: first child of healthy, non-consanguineous parents; younger brother developed normally; son of a paternal aunt diagnosed with PDD-NOS; female 2nd cousin on the paternal side diagnosed with Asperger syndrome.
IQ estimated to be 102 (based on WISC-III); discrepancy between verbal IQ (109) and performance IQ (94).
2220365
2600366
380002
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case251
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
1164205
1598860
434656
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case252
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
1766955
1922527
155573
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-controlB229893_1007841234
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB271690_1007873316
N/A
N/A
Control
No previous psychiatric history
1118929
1221000
102072
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB328508_1007873324
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB409184_0067949264
N/A
N/A
Control
No previous psychiatric history
53998
108274
54277
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
N/A
N/A
Control
No previous psychiatric history
627644
716449
88806
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB592978_1007848517
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB631674_1007875797
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB640981_1007874885
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB703798_0067942580
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB775533_1007852604
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB892844_1007875170
N/A
N/A
Control
No previous psychiatric history
93811
479668
385858
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB941135_1007844504
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB964915_1007843932
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900239_900239
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900246_900246
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900353_900353
N/A
N/A
Control
No previous psychiatric history
911250
966314
55065
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900667_900667
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900692_900692
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900958_900958
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900985_900985
N/A
N/A
Control
No previous psychiatric history
43902
71276
27375
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901109_901109
N/A
N/A
Control
No previous psychiatric history
44935
109624
64690
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901122_901122
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901161_901161
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902642_902642
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902724_902724
N/A
N/A
Control
No previous psychiatric history
43902
68920
25019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902836_902836
N/A
N/A
Control
No previous psychiatric history
43902
71276
27375
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1931
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
93811
203326
109516
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control12957.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
193199
258705
65507
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13072.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
193199
259980
66782
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11723.s1
NA
F
Control
NA
NA
1118381
1214855
96475
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C27915A
N/A
M
Control
NIMH Control (NIMH ID 66468)
1434594
1569341
134748
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
44935
65254
20320
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
213723
232258
18536
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11049.s1
9.8
F
Control (matched sibling)
NA
NA
45653
68920
23268
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11051.s1
9.6
F
Control (matched sibling)
NA
NA
45653
68920
23268
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11108.s1
10.3
M
Control (matched sibling)
NA
NA
43902
65254
21353
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11117.s1
7.1
F
Control (matched sibling)
NA
NA
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11121.s1
16.2
F
Control (matched sibling)
NA
NA
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11216.s1
6.4
M
Control (matched sibling)
NA
NA
68180
164003
95823
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11325.s1
12.3
M
Control (matched sibling)
NA
NA
44935
68920
23986
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11347.s1
17
M
Control (matched sibling)
NA
NA
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11350.s1
6.1
M
Control (matched sibling)
NA
NA
37124
164003
126879
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11360.s1
8.4
F
Control (matched sibling)
NA
NA
152640
168027
15388
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11364.s1
8.8
F
Control (matched sibling)
NA
NA
44935
68920
23986
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
983092
995564
12473
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
1545592
1554327
8736
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11483.s1
12.7
M
Control (matched sibling)
NA
NA
45653
68920
23268
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11545.s1
11.2
M
Control (matched sibling)
NA
NA
43902
65254
21353
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11551.s1
12.8
F
Control (matched sibling)
NA
NA
64201
139113
74913
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11630.s1
8.3
M
Control (matched sibling)
NA
NA
44408
68920
24513
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11696.s1
16.8
M
Control (matched sibling)
NA
NA
44935
67820
22886
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11723.s1
4.5
F
Control (matched sibling)
NA
NA
1115301
1221000
105700
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11768.s1
7
F
Control (matched sibling)
NA
NA
43902
65325
21424
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11793.s1
11.1
F
Control (matched sibling)
NA
NA
44935
68920
23986
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11808.s1
12.2
F
Control (matched sibling)
NA
NA
57660
67820
10161
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11845.s1
7.5
F
Control (matched sibling)
NA
NA
43902
67820
23919
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11857.s1
12.5
F
Control (matched sibling)
NA
NA
152640
155066
2427
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11917.s1
4.3
F
Control (matched sibling)
NA
NA
1942038
1958749
16712
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
1942038
1952755
10718
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11935.s1
6.2
M
Control (matched sibling)
NA
NA
37124
132529
95405
NCBI36
Duplication
No
sanders_11_ASD_discovery_controls-11966.s1
16.3
M
Control (matched sibling)
NA
NA
44408
65325
20918
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
1942038
1958749
16712
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
1543215
1550807
7593
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
152640
155066
2427
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12036.s1
5.9
F
Control (matched sibling)
NA
NA
44408
71276
26869
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12068.s1
14.1
M
Control (matched sibling)
NA
NA
43902
68920
25019
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12152.s1
6.8
M
Control (matched sibling)
NA
NA
44408
71276
26869
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
1942038
1958749
16712
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12197.s1
5.8
F
Control (matched sibling)
NA
NA
44408
68920
24513
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12223.s1
10.9
F
Control (matched sibling)
NA
NA
43902
85111
41210
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12229.s1
7.8
F
Control (matched sibling)
NA
NA
44408
71276
26869
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12492.s1
13.1
M
Control (matched sibling)
NA
NA
44935
68920
23986
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12494.s1
11
F
Control (matched sibling)
NA
NA
1942038
1952755
10718
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12524.s1
4.4
F
Control (matched sibling)
NA
NA
44935
68920
23986
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
45653
68920
23268
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12582.s1
9.2
M
Control (matched sibling)
NA
NA
44408
65765
21358
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12695.s1
14.1
M
Control (matched sibling)
NA
NA
917377
924337
6961
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12704.s1
6.4
F
Control (matched sibling)
NA
NA
50257
71276
21020
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12851.s1
5.8
M
Control (matched sibling)
NA
NA
45653
65765
20113
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12902.s1
14.3
M
Control (matched sibling)
NA
NA
50257
65765
15509
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12951.s1
12.1
M
Control (matched sibling)
NA
NA
43902
65765
21864
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12957.s1
13.3
F
Control (matched sibling)
NA
NA
161517
213723
52207
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12957.s1
13.3
F
Control (matched sibling)
NA
NA
44935
124238
79304
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12984.s1
12
M
Control (matched sibling)
NA
NA
43902
124238
80337
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12989.s1
11.4
F
Control (matched sibling)
NA
NA
44408
71276
26869
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13001.s1
7.4
M
Control (matched sibling)
NA
NA
1942038
1952755
10718
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13023.s1
8.8
M
Control (matched sibling)
NA
NA
44408
71276
26869
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13072.s1
8.7
F
Control (matched sibling)
NA
NA
186119
232258
46140
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13222.s1
13.5
F
Control (matched sibling)
NA
NA
44408
65765
21358
GRCh38
Duplication
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-754
RT-qPCR
Paternal
UNCX,PSMG3,INTS1,MAFK,TMEM184A,MICALL2,PSMG3-AS1
christian_08_ASD_discovery_cases-AU038503
FISH
inherited
Multiplex
NA
CYP2W1,MIR339,GPER1,ZFAND2A,UNCX,FAM20C,PDGFA,SUN1,GET4,HRAT92,PRKAR1B,DNAAF5,ADAP1,COX19,C7orf50,GPR146
digregorio_17_DD/ID_discovery_cases-DECIPHER_301269
Unknown
CYP2W1,MIR339,GPER1,ZFAND2A,UNCX,COX19,C7orf50,GPR146
engchuan_15_ASD_discovery_cases-case1265_8
Unknown
engchuan_15_ASD_discovery_cases-case14028_530
Unknown
INTS1,MAFK,TMEM184A,MICALL2
engchuan_15_ASD_discovery_cases-case14342_4560
Unknown
engchuan_15_ASD_discovery_cases-case1948_301
Unknown
engchuan_15_ASD_discovery_cases-case2190_1
Unknown
engchuan_15_ASD_discovery_cases-case3612_3
Unknown
engchuan_15_ASD_discovery_cases-case3617_3
Unknown
engchuan_15_ASD_discovery_cases-case4144_1
Unknown
engchuan_15_ASD_discovery_cases-case4166_1
Unknown
engchuan_15_ASD_discovery_cases-case5039_4
Unknown
engchuan_15_ASD_discovery_cases-case5286_3
Unknown
engchuan_15_ASD_discovery_cases-case5289_4
Unknown
engchuan_15_ASD_discovery_cases-case5438_3
Unknown
engchuan_15_ASD_discovery_cases-case5508_3
Unknown
engchuan_15_ASD_discovery_cases-case6023_3
Unknown
engchuan_15_ASD_discovery_cases-case6323_3
Unknown
engchuan_15_ASD_discovery_cases-case6323_3
Unknown
FAM20C,PDGFA,HRAT92
engchuan_15_ASD_discovery_cases-case8587_210
Unknown
CYP2W1,ADAP1,COX19,C7orf50
gai_11_ASD_replication_cases-AU038503
Inherited
FAM20C, PDGFA, PRKAR1B, HEATR2, UNC84A, C7orf20, ADAP1, COX19, CYP2W1, C7orf50, GPR146, GPER, ZFAND2A, UNCX
gai_11_ASD_replication_cases-AU038504
Inherited
FAM20C, PDGFA, PRKAR1B, HEATR2, UNC84A, C7orf20, ADAP1, COX19, CYP2W1, C7orf50, GPR146, GPER, ZFAND2A, UNCX
gazzellone_14_ASD_discovery_cases-case632-3
Unknown
Unknown
Unknown
ZFAND2A,C7orf50
gazzellone_14_ASD_discovery_cases-case682-3
Unknown
Unknown
Unknown
FAM20C,PDGFA,HRAT92,PRKAR1B
iourov_12_ASD/ID/EP_discovery_cases-case22
Unknown
Unknown
Unknown
GPER1,ZFAND2A,UNCX,PSMG3,TFAMP1,ELFN1-AS1,MIR4655,INTS1,MAFK,TMEM184A,MICALL2,PSMG3-AS1,ELFN1,C7orf50,MAD1L1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000719
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FAM20C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001222
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CYP2W1,MIR339,GPER1,ZFAND2A,UNCX,PSMG3,TFAMP1,ELFN1-AS1,FAM20C,PDGFA,SUN1,GET4,INTS1,MAFK,TMEM184A,HRAT92,PRKAR1B,DNAAF5,ADAP1,COX19,MICALL2,PSMG3-AS1,ELFN1,C7orf50,GPR146,MAD1L1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001263
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FAM20C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002639
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CYP2W1,MIR339,GPER1,ZFAND2A,UNCX,FAM20C,PDGFA,SUN1,GET4,HRAT92,PRKAR1B,DNAAF5,ADAP1,COX19,MICALL2,C7orf50,GPR146
li_18_ASD_discovery_cases-case5801
Unknown
Simplex
Unknown
GRIFIN,CHST12,LFNG
panigrahi_24_ASD/DD/ID_discovery_cases-case21
Unknown
DNAAF5,FAM20C,PRKAR1B-AS1,PRKAR1B-AS2,PRKAR1B,PDGFA,FOXL3,SUN1
peycheva_18_ID/EP_discovery_cases-case385
qPCR
Unknown
FAM20C,PDGFA,SUN1,GET4,HRAT92,PRKAR1B,DNAAF5,ADAP1,COX19
pinto_10_ASD_discovery_cases-case5286_3
Agilent1M
Both parents
Simplex
NA
poultney_13_ASD_discovery_cases-case99HI0802A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR6836,IMMP1LP3,GRIFIN,MIR4648,SNX8,CHST12,LFNG,BRAT1,IQCE,TTYH3,EIF3B
prasad_12_ASD_discovery_cases-case45551
Unknown
Unknown
Unknown
ELFN1
prasad_12_ASD_discovery_cases-caseL879
Unknown
Unknown
Unknown
0 genes
rosenfeld_10_ASD_discovery_cases-case11977
FISH
Maternal
Unknown
Unknown
SUN1,GET4
rosenfeld_10_ASD_discovery_cases-case17009
FISH
Maternal
Unknown
Unknown
FAM20C
rosenfeld_10_ASD_discovery_cases-case21865
FISH
Unknown
Unknown
Unknown
FAM20C
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-337
Not tested by qPCR
Unknown
Unknown
Unknown
AL137655,DQ576410,DQ584609,DQ600587,PDGFA
sanders_11_ASD_discovery_cases-11004.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11025.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11029.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FAM20C
sanders_11_ASD_discovery_cases-11049.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11049.p1
Paternal
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11051.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11121.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11172.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11176.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11201.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11216.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11267.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11282.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11350.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11355.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11378.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11464.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11471.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11473.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11479.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11483.p1
Maternal
Simplex (quad-proband matched)
Not segregated
0 genes
sanders_11_ASD_discovery_cases-11512.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11521.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MAD1L1
sanders_11_ASD_discovery_cases-11551.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11617.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11627.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MAFK,TMEM184A
sanders_11_ASD_discovery_cases-11653.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11696.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11700.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11808.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11918.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MAD1L1
sanders_11_ASD_discovery_cases-11938.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11966.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11996.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11996.p1
Paternal
Simplex (trio)
NA
ADAP1,COX19
sanders_11_ASD_discovery_cases-12011.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12028.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12068.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12152.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12170.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12192.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12197.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12197.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12265.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12300.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12327.p1
Both parents
Simplex (quad-proband matched)
Not segregated
COX19
sanders_11_ASD_discovery_cases-12396.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12492.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12494.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MAD1L1
sanders_11_ASD_discovery_cases-12555.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12572.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12582.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12591.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12596.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12671.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12851.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12902.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12939.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12961.p1
Paternal
Simplex (trio)
NA
ELFN1
sanders_11_ASD_discovery_cases-12989.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13016.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
vulto-van_silfhout_12_ASD_discovery_cases-case1
De novo
Simplex
Likely segregated
MRM2,MIR6836,IMMP1LP3,GRIFIN,MIR4648,NUDT1,SNX8,CHST12,LFNG,BRAT1,IQCE,EIF3B,MAD1L1
yin_16_ASD_discovery_cases-case251
Unknown
Unknown
Unknown
UNCX,PSMG3,INTS1,MAFK,TMEM184A,MICALL2,PSMG3-AS1
yin_16_ASD_discovery_cases-case252
Unknown
Unknown
Unknown
MIR4655,MAD1L1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB229893_1007841234
Unknown
engchuan_15_ASD_discovery_controls-controlB271690_1007873316
Unknown
ZFAND2A,C7orf50
engchuan_15_ASD_discovery_controls-controlB328508_1007873324
Unknown
engchuan_15_ASD_discovery_controls-controlB409184_0067949264
Unknown
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
Unknown
PRKAR1B
engchuan_15_ASD_discovery_controls-controlB592978_1007848517
Unknown
engchuan_15_ASD_discovery_controls-controlB631674_1007875797
Unknown
engchuan_15_ASD_discovery_controls-controlB640981_1007874885
Unknown
engchuan_15_ASD_discovery_controls-controlB703798_0067942580
Unknown
engchuan_15_ASD_discovery_controls-controlB775533_1007852604
Unknown
engchuan_15_ASD_discovery_controls-controlB892844_1007875170
Unknown
FAM20C
engchuan_15_ASD_discovery_controls-controlB941135_1007844504
Unknown
engchuan_15_ASD_discovery_controls-controlB964915_1007843932
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900239_900239
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900246_900246
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900353_900353
Unknown
ADAP1,COX19
engchuan_15_ASD_discovery_controls-controlHABC_900667_900667
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900692_900692
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900958_900958
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900985_900985
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901109_901109
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901122_901122
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901161_901161
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902642_902642
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902724_902724
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902836_902836
Unknown
kanduri_15_ASD_discovery_controls-control_split1931
Unknown
FAM20C
krumm_15_ASD_discovery_controls-control12957.s1
Illumina 1MDuo
Paternal
FAM20C
krumm_15_ASD_discovery_controls-control13072.s1
Illumina 1MDuo
Maternal
FAM20C
levy_11_ASD_discovery_controls-11723.s1
Paternal
Simplex
NA
ZFAND2A,C7orf50
poultney_13_ASD_discovery_controls-control04C27915A
Unknown
PSMG3,INTS1,MAFK,TMEM184A,MICALL2
sanders_11_ASD_discovery_controls-11029.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11033.s1
Maternal
Simplex (quad)
NA
FAM20C
sanders_11_ASD_discovery_controls-11049.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11051.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11106.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11108.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11117.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11121.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11216.s1
Maternal
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11325.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11347.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11350.s1
Paternal
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11360.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11364.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11439.s1
Unknown
Simplex (quad)
NA
CYP2W1
sanders_11_ASD_discovery_controls-11472.s1
Both parents
Simplex (quad)
NA
TMEM184A
sanders_11_ASD_discovery_controls-11473.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11483.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11545.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11551.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11630.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11696.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11723.s1
Paternal
Simplex (quad)
NA
ZFAND2A,C7orf50
sanders_11_ASD_discovery_controls-11768.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11793.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11808.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11845.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11857.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11917.s1
Maternal
Simplex (quad)
NA
MAD1L1
sanders_11_ASD_discovery_controls-11918.s1
Both parents
Simplex (quad)
NA
MAD1L1
sanders_11_ASD_discovery_controls-11935.s1
Unknown
Simplex (quad)
NA
0 genes
sanders_11_ASD_discovery_controls-11966.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11981.s1
Unknown
Simplex (quad)
NA
MAD1L1
sanders_11_ASD_discovery_controls-11986.s1
Unknown
Simplex (quad)
NA
TMEM184A
sanders_11_ASD_discovery_controls-12033.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12036.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12068.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12152.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12184.s1
Unknown
Simplex (quad)
NA
MAD1L1
sanders_11_ASD_discovery_controls-12197.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12223.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12229.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12492.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12494.s1
Unknown
Simplex (quad)
NA
MAD1L1
sanders_11_ASD_discovery_controls-12524.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12540.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12582.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12695.s1
Paternal
Simplex (quad)
NA
ADAP1,COX19
sanders_11_ASD_discovery_controls-12704.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12851.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12902.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12951.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12957.s1
Paternal
Simplex (quad)
NA
FAM20C
sanders_11_ASD_discovery_controls-12957.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12984.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12989.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13001.s1
Unknown
Simplex (quad)
NA
MAD1L1
sanders_11_ASD_discovery_controls-13023.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13072.s1
Maternal
Simplex (quad)
NA
FAM20C
sanders_11_ASD_discovery_controls-13222.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available