20p13CNV Type: Deletion-Duplication
Largest CNV size: 1262795 bp
Statistics Box:
Number of Reports: 33
Number of Reports: 33
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Strong association of de novo copy number mutations with autism.
Deletion
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
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
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
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-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
229000
0
1
1
ben-david_11_ASD_discovery_cases
Lymphoblastoid cell lines (LCLs) from a subset of ASD subjects previously used in Yirmiya et al. 2006 AVPR1a association study.
17
Diagnosis of DSM IV autistic disorder (n=14) or PDD-NOS (n=3) using ADI-R and ADOS-G; average IQ 51.2 28.3
70.59% Male
109000
0
1
1
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
169000
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
108364
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
74297
2
0
2
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
1279397
1
0
1
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
22235
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
739611
0
1
1
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
480212
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
34366
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
116989
2
2
4
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
1498382
1
1
2
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
2168418
8
6
14
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
4282
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
47044
2
1
3
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
23765
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
39168
1
0
1
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
1410019
1
0
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
32314
0
2
2
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
150000
0
2
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
158717
1
1
2
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
112483
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
351317
1
1
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
276815
7
4
11
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
354958
0
2
2
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
64575
6
0
6
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
25013
1
0
1
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
21202
1
0
1
sebat_07_ASD_discovery_cases
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
195
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
1169205
2
0
2
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
1262795
0
2
2
tammimies_15_ASD_discovery_cases
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
258
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
4.5 2.8 yrs.
83.72% Male
1277520
1
0
1
tropeano_16_ASD_discovery_cases
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
90
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Adult age (20 yrs.+)
N/A
956315
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
14069
1
0
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
275225
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
431
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
468738
0
1
1
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
79
1
0
1
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
340028
1
5
6
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
0
0
0
0
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
40665
1
1
2
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
58010
0
5
5
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
139637
0
1
1
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
23765
0
1
1
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
366500
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
39168
1
1
2
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.
26381
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)
44213
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)
276815
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.
167739
2
2
4
sebat_07_ASD_discovery_controls
Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
196
Controls
1169205
0
0
0
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
275225
N/A
N/A
N/A
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
431
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
ben-david_11_ASD_discovery_cases
Array SNP
Affymetrix 6.0
Canary, PennCNV
Affymetrix Genotyping Console
MLPA
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
None
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
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
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
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
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
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
qPCR
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
sebat_07_ASD_discovery_cases
ROMA
HMM
S-PLUS
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tammimies_15_ASD_discovery_cases
Canada
aCGH, array SNP, solid phase hybridization
One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
None
tropeano_16_ASD_discovery_cases
United Kingdom
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench
MLPA, aCGH
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
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_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
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
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
sebat_07_ASD_discovery_controls
ROMA
HMM
S-PLUS
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case62789
14 yrs.
F
Developmental delay and epilepsy
Developmental delay, truncal ataxia, generalized epilepsy, tall stature. Duplication absent in mother but present in similarly affected sister; father's DNA not available
2706776
2936122
229347
GRCh38
Duplication
Yes
ben-david_11_ASD_discovery_cases-proband112
NA
NA
ASD
NA
NA
754677
863863
109000
Unknown
Duplication
Yes
bitar_19_ASD_discovery_cases-case88
N/A
M
ASD
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: depression, fear, anxiety, self-injurious behavior, bedwetting. Family history: born to non-consanguineous parents; history of diabetes on the maternal side and hypertension on both sides of the family
2197434
2366654
169221
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC09651
N/A
M
ASD
Case from SSC_phase1 cohort
2924201
3032565
108365
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case1-0736-003
N/A
F
ASD
Case from MSSNG cohort
3647938
3649082
1145
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case3-0736-000
N/A
M
ASD
Case from MSSNG cohort
4935756
5010052
74297
GRCh38
Deletion
No
chan_22_ASD_discovery_cases-case3-0360-000
NA
M
ASD and developmental delay
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Developmental milestones: global developmental delay. Dysmorphic features: double hair whorl, prominent philtrum, ear aysmmetry (right ear smaller and more posteriorly rotated), bilateral fifth finger clinodactyly with small hands. Growth parameters: short stature.
Cognitive evaluation at 8 years 3 months demonstrated a full scale IQ score of 86, a listening comprehension standard score of 79 (8th centile), and an oral expression standard score of 71 (3rd centile).
79360
1358756
1279397
GRCh38
Deletion
No
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
1588320
1610555
22236
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14128_2240
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1832727
2572338
739612
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU079304
Autism
2171481
2651692
480212
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case681-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
776199
810565
34367
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11558.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
132207
165529
33323
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13014.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
132207
165529
33323
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13664.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
3796947
3913936
116990
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU022704
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
3796947
3913936
116990
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case16D2392
7 yrs. 8 mos.
M
Developmental delay/Intellectual disability
80927
1058773
977847
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case19D0185
1 mos. 22 days
F
Developmental delay
Bilateral hearing problem, valgus feet, cleft palate
80927
1579308
1498382
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000847
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89939
1360110
1270172
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000875
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89939
1852477
1762539
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000961
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89939
1028206
938268
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002268
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
121781
2290194
2168414
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002304
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
828964
1241192
412229
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002657
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3059231
4187716
1128486
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003964
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89939
975656
885718
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003992
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89939
1939218
1849280
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004825
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89939
975656
885718
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004840
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2595077
3004837
409761
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004938
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1551830
1883860
332031
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004974
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2911664
4017687
1106024
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005359
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89939
1770567
1680629
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005382
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89939
1668795
1578857
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12383.p1
N/A
M
ASD
ASD proband from SSC quad family 12383. SRS score of 80.
Full-scale IQ (FSIQ) score of 101.
3854624
3857809
3186
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12650.p1
N/A
M
ASD
ASD proband from SSC quad family 12650. SRS score of 79.
Full-scale IQ (FSIQ) score of 104.
3754396
3758678
4283
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case12656.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3754057
3758680
4624
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12710.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
275967
278429
2463
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13014.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
142607
189651
47045
GRCh38
Deletion
Yes
larson_17_ASD_discovery_cases-case111
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
646935
670700
23766
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12581.p1
NA
F
ASD
NA
NA
4950860
4990027
39168
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case49
N/A
M
ASD and ADHD
PDD-NOS, hyperactivity/ADHD
Learning difficulties
285359
1695372
1410014
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
1580934
1613247
32314
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
1580934
1613247
32314
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam694Proband7926
N/A
M
ASD
Additional clinical profile info N/A
ID
658277
801002
142726
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam808Proband8637
N/A
M
ASD
Additional clinical profile info N/A
ID
82603
232782
150180
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-213-1
ASD
702300
861016
158717
Unknown
Duplication
No
nord_11_ASD_discovery_cases-255-1
ASD
4412614
4423727
11114
Unknown
Deletion
No
pfundt_16_nonNDD_discovery_cases-case118
N/A
N/A
Non-NDD
Disease cohort: blindness. Description: PANK2 deletion
3804568
3917051
112484
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case01HI2158A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU079304; NDAR ID NDAR_INVYP365XV9)
2309655
2660971
351317
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3527A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1351302; NDAR ID NDAR_INVHM415PDZ)
3797620
3804963
7344
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case100677L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
314677
331942
17266
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case121858
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2970908
2982757
11850
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case126047
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3827236
3831572
4337
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case160012L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
1544285
1821099
276815
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case160012L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
1435622
1506379
70758
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case49202
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3827236
3831572
4337
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case55497
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3827236
3831572
4337
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60560L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
1212545
1234990
22446
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60973L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3827236
3831572
4337
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case62251L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
314677
326132
11456
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case92540L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
4887203
4902847
15645
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1327-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
463154
818112
354959
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1559-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: no.
Developmental delay: unknown. Intellectual disability: unknown.
3849020
3911249
62230
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11558.p1
7.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 89
106775
153376
46602
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12581.p1
12.4
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
4955464
4990075
34612
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
274599
288365
13767
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12858.p1
4.2
F
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
1622310
1632365
10056
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13014.p1
16.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 103
138006
202581
64576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13382.p1
4.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ, 83
4955464
4993460
37997
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
1577533
1602545
25013
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
1582786
1603987
21202
GRCh38
Deletion
No
sebat_07_ASD_discovery_cases-71-259100
NA
F
Autism
NA
NA
75912
367871
291959
Unknown
Deletion
Yes
sebat_07_ASD_discovery_cases-SK-135-C
NA
M
Asperger's
NA
NA
2785194
3954399
1169205
Unknown
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR041-G10-01C05471
NA
ASD
NA
NA
167044
1429836
1262793
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR041-G7-01C05468
NA
ASD
NA
NA
167044
762576
595533
GRCh38
Duplication
Yes
tammimies_15_ASD_discovery_cases-case3-0360-000
N/A
M
ASD
Dysmorphic features: double hair whorl, prominent philtrum, ear asymmetry, bilateral 5th finger clinodactyly, short stature, small hands.
Normal intelligence (IQ of 86)
82279
1359795
1277517
GRCh38
Deletion
No
tropeano_16_ASD_discovery_cases-MAAS10
40-49 yrs.
M
ASD
Case diagnosed with autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R.
89939
1046252
956314
GRCh38
Deletion
Yes
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
1582786
1596854
14069
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case2-1368-003
N/A
F
ASD
N/A
N/A
1613203
1888427
275225
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case580
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
1618496
1618926
431
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
bacchelli_20_ASD_discovery_controls-control10213
N/A
M
Control
Control
843608
1312345
468738
GRCh38
Duplication
No
brandler_18_ASD_discovery_controls-controlSSC12925
N/A
M
Control
Control from SSC cohort
4877953
4878032
80
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036014793_
N/A
N/A
Control
No previous psychiatric history
338406
431198
92793
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB452714_1007872596
N/A
N/A
Control
No previous psychiatric history
127687
229993
102307
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB476424_1007853954
N/A
N/A
Control
No previous psychiatric history
82603
157259
74657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB529705_1007840923
N/A
N/A
Control
No previous psychiatric history
685539
1025568
340030
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901170_901170
N/A
N/A
Control
No previous psychiatric history
637164
715026
77863
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902688_902688
N/A
N/A
Control
No previous psychiatric history
110343
164772
54430
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split163
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
932513
934948
2436
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1729
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
2117462
2158126
40665
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12383.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12383. SRS score of 72.
3854624
3857809
3186
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control12409.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12409. SRS score of 44.
3754057
3758678
4622
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12650.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12650. SRS score of 63.
3754396
3758678
4283
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control13101.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13101. SRS score of 51.
3854624
3912634
58011
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13335.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13335. SRS score of 36.
3754057
3755607
1551
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11530.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
87709
227346
139638
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_controls-controlPN400266
N/A
M
Control
Non-autism control
761032
1127529
366498
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12494.s1
NA
F
Control
NA
NA
79732
109974
30243
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12581.s1
NA
M
Control
NA
NA
4950860
4990027
39168
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C28280
Control
3584046
3610426
26381
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C37985A
N/A
F
Control
NIMH Control (NIMH ID 75535)
145413
189625
44213
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11530.s1
9.4
F
Control (matched sibling)
NA
NA
82603
250342
167740
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12383.s1
12.8
M
Control (matched sibling)
NA
NA
3841501
3849827
8327
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12581.s1
15.7
M
Control (matched sibling)
NA
NA
4955464
4990075
34612
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12858.s1
6.3
F
Control (matched sibling)
NA
NA
1622310
1632365
10056
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case62789
MLPA
Unknown (not maternal)
Multiplex
Possibly segregated
RPL19P1,CPXM1,C20orf141,PCED1A,TMEM239,VPS16,EBF4,PTPRA
ben-david_11_ASD_discovery_cases-proband112
MLPA
Unknown
Unknown
Unknown
FAM110A, ANGPT4
Monoallelic expression of KIF16B
bitar_19_ASD_discovery_cases-case88
qPCR
Paternal
TGM3
brandler_18_ASD_discovery_cases-caseSSC09651
PCR or SNP data validation
Paternal
PTPRA
brandler_18_ASD_replication_cases-case1-0736-003
No validation step reported
Paternal
ATRN
brandler_18_ASD_replication_cases-case3-0736-000
No validation step reported
Paternal
SLC23A2
chan_22_ASD_discovery_cases-case3-0360-000
Maternal
ACTG1P3,CSNK2A1,SDCBP2,ANGPT4,TMEM74B,TRIB3,NRSN2,FAM110A,DEFB126,SCRT2,RPS10P5,ZCCHC3,TBC1D20,SLC52A3,DEFB129,DEFB127,SRXN1,C20orf96,DEFB128,DEFB125,RSPO4,C20orf202,DEFB132,RAD21L1,NRSN2-AS1,SDCBP2-AS1,SOX12,TCF15,SNPH,PSMF1,RBCK1
chilian_13_DD/ID_discovery_cases-case1
Unknown
Possibly simplex (no info on 1st child)
Unknown
SIRPB1
engchuan_15_ASD_discovery_cases-case14128_2240
Unknown
RPL7P2,SNRPB,SIRPA,PDYN,STK35,TGM3,TGM6,PDYN-AS1,ZNF343,TMC2
gai_11_ASD_replication_cases-AU079304
Inherited
TGM3, TGM6, SNRPB, SNRPB, SNORD119, ZNF343, TMC2, NOP56, SNORD110, SNORA51, SNORD86, SNORD56, SNORD57, IDH3B, EBF4
gazzellone_14_ASD_discovery_cases-case681-3
Unknown
Unknown
Unknown
girirajan_13a_ASD_discovery_cases-11558.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
DEFB126,DEFB127
girirajan_13a_ASD_discovery_cases-13014.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
DEFB126,DEFB127
girirajan_13a_ASD_discovery_cases-13664.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
LINC01730,AP5S1,MAVS,PANK2,CDC25B
girirajan_13a_ASD_discovery_cases-AU022704
Unknown
Multiplex
Unknown
LINC01730,AP5S1,MAVS,PANK2,CDC25B
han_22_ASD/DD/ID_discovery_cases-case16D2392
De novo
CSNK2A1,ANGPT4,TRIB3,NRSN2,FAM110A,DEFB126,SCRT2,RPS10P5,ZCCHC3,TBC1D20,SLC52A3,DEFB129,DEFB127,SRXN1,C20orf96,DEFB128,DEFB125,RSPO4,DEFB132,NRSN2-AS1,SOX12,TCF15,RBCK1
han_22_ASD/DD/ID_discovery_cases-case19D0185
Unknown
ACTG1P3,CSNK2A1,FKBP1A,SDCBP2,ANGPT4,TMEM74B,TRIB3,NSFL1C,NRSN2,FAM110A,DEFB126,SCRT2,RPS10P5,ZCCHC3,SIRPD,TBC1D20,SLC52A3,DEFB129,DEFB127,SRXN1,C20orf96,DEFB128,DEFB125,SIRPB2,RSPO4,C20orf202,DEFB132,RAD21L1,NRSN2-AS1,SDCBP2-AS1,MIR6869,SOX12,TCF15,RNU6-917P,SNPH,PSMF1,RBCK1,SIRPB1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000847
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,ACTG1P3,TMEM74B,C20orf202,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,SDCBP2-AS1,TRIB3,CSNK2A1,PSMF1,SDCBP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000875
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,ACTG1P3,TMEM74B,C20orf202,MIR6869,RNU6-917P,RN7SL561P,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,SDCBP2-AS1,FKBP1A,NSFL1C,SIRPB2,SIRPD,SIRPG,SIRPG-AS1,TRIB3,CSNK2A1,PSMF1,SDCBP2,SIRPB1,SIRPB3P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000961
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,TRIB3,CSNK2A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002268
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,ACTG1P3,TMEM74B,C20orf202,MIR6869,RNU6-917P,RN7SL561P,RPL7P2,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,SDCBP2-AS1,FKBP1A,NSFL1C,SIRPB2,SIRPD,SIRPG,SIRPG-AS1,SIRPA,PDYN,STK35,TRIB3,CSNK2A1,PSMF1,SDCBP2,SIRPB1,SIRPB3P,PDYN-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002304
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS10P5,ACTG1P3,TMEM74B,C20orf202,FAM110A,ANGPT4,RSPO4,RAD21L1,PSMF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002657
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
OXT,AVP,RN7SL555P,FASTKD5,LZTS3,RNU6-1019P,UBE2V1P1,GFRA4,SPEF1,LINC01730,AP5S1,MIR103A2,MIR103B2,FTLP3,RPL21P2,DDRGK1,ITPA,SLC4A11,SF3A3P1,SIGLEC1,HSPA12B,C20orf27,CENPB,MAVS,PANK2,SMOX,C20orf194,ATRN,ADAM33,CDC25B,RNF24,UBOX5-AS1,UBOX5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003964
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,TRIB3,CSNK2A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003992
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,ACTG1P3,TMEM74B,C20orf202,MIR6869,RNU6-917P,RN7SL561P,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,SDCBP2-AS1,FKBP1A,NSFL1C,SIRPB2,SIRPD,SIRPG,SIRPG-AS1,SIRPA,TRIB3,CSNK2A1,PSMF1,SDCBP2,SIRPB1,SIRPB3P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004825
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,TRIB3,CSNK2A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004840
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1292,SNORD110,SNORA51,SNORD86,SNORD56,SNORD57,IDH3B,RPL19P1,CPXM1,C20orf141,PCED1A,NOP56,TMEM239,VPS16,TMC2,EBF4,PTPRA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004938
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL561P,SIRPD,SIRPG,SIRPG-AS1,SIRPB1,SIRPB3P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004974
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GNRH2,OXT,AVP,RN7SL555P,FASTKD5,LZTS3,RNU6-1019P,UBE2V1P1,GFRA4,SPEF1,LINC01730,AP5S1,MIR103A2,MIR103B2,MRPS26,DDRGK1,ITPA,SLC4A11,SF3A3P1,SIGLEC1,HSPA12B,C20orf27,CENPB,MAVS,PANK2,PTPRA,C20orf194,ATRN,ADAM33,CDC25B,RNF24,UBOX5-AS1,UBOX5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005359
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,ACTG1P3,TMEM74B,C20orf202,MIR6869,RNU6-917P,RN7SL561P,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,SDCBP2-AS1,FKBP1A,NSFL1C,SIRPB2,SIRPD,SIRPG,SIRPG-AS1,TRIB3,CSNK2A1,PSMF1,SDCBP2,SIRPB1,SIRPB3P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005382
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,ACTG1P3,TMEM74B,C20orf202,MIR6869,RNU6-917P,RN7SL561P,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,SDCBP2-AS1,FKBP1A,NSFL1C,SIRPB2,SIRPD,SIRPG,SIRPG-AS1,TRIB3,CSNK2A1,PSMF1,SDCBP2,SIRPB1,SIRPB3P
krumm_13_ASD_discovery_cases-case12383.p1
aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Not segregated
MAVS
krumm_13_ASD_discovery_cases-case12650.p1
Maternal
Simplex
Not segregated
C20orf27
krumm_15_ASD_discovery_cases-case12656.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
C20orf27
krumm_15_ASD_discovery_cases-case12710.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
C20orf96
krumm_15_ASD_discovery_cases-case13014.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
DEFB126,DEFB127,DEFB128
larson_17_ASD_discovery_cases-case111
Unknown
Unknown
SRXN1,SCRT2
levy_11_ASD_discovery_cases-12581.p1
Maternal
Simplex
Not segregated
SLC23A2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case49
Unknown
ZCCHC3,NRSN2,SRXN1,RPS10P5,ACTG1P3,TMEM74B,C20orf202,MIR6869,RNU6-917P,RN7SL561P,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,SDCBP2-AS1,FKBP1A,NSFL1C,SIRPB2,SIRPD,SIRPG,SIRPG-AS1,TRIB3,CSNK2A1,PSMF1,SDCBP2,SIRPB1,SIRPB3P
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
SIRPB1
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
SIRPB1
nava_13_ASD_discovery_cases-Fam694Proband7926
Maternal (mother with seizures)
Simplex
Unknown
SCRT2,SLC52A3
nava_13_ASD_discovery_cases-Fam808Proband8637
Maternal
Simplex
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB129
nord_11_ASD_discovery_cases-213-1
Paternal
ANGPT4,FAM110A
nord_11_ASD_discovery_cases-255-1
Paternal
0 genes
pfundt_16_nonNDD_discovery_cases-case118
MLPA or MAQ
LINC01730,AP5S1,MAVS,PANK2,CDC25B
poultney_13_ASD_discovery_cases-case01HI2158A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SNRPB,MIR1292,SNORD110,SNORA51,SNORD86,SNORD56,SNORD57,IDH3B,TGM3,TGM6,NOP56,ZNF343,TMC2
poultney_13_ASD_discovery_cases-case04HI3527A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CDC25B
prasad_12_ASD_discovery_cases-case100677L
Unknown
Unknown
Unknown
TRIB3
prasad_12_ASD_discovery_cases-case121858
Unknown
Unknown
Unknown
MRPS26,GNRH2
prasad_12_ASD_discovery_cases-case126047
Unknown
Unknown
Unknown
PANK2
prasad_12_ASD_discovery_cases-case160012L
Unknown
Unknown
Unknown
SIRPG,LOC100289473,SIRPB1
prasad_12_ASD_discovery_cases-case160012L
Unknown
Unknown
Unknown
SIRPD,SIRPB1
prasad_12_ASD_discovery_cases-case49202
Unknown
Unknown
Unknown
PANK2
prasad_12_ASD_discovery_cases-case55497
Unknown
Unknown
Unknown
PANK2
prasad_12_ASD_discovery_cases-case60560L
Unknown
Unknown
Unknown
SNPH
prasad_12_ASD_discovery_cases-case60973L
Unknown
Multiplex
Unknown
PANK2
prasad_12_ASD_discovery_cases-case62251L
Unknown
Unknown
Unknown
TRIB3
prasad_12_ASD_discovery_cases-case92540L
qPCR
Paternal
Unknown
Unknown
SLC23A2
sajan_13_ACC/CBLH/PMG_discovery_cases-case1327-0
qPCR
De novo
Unknown
Unknown
SRXN1,TCF15,SCRT2,SLC52A3,CSNK2A1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1559-0
qPCR
Paternal
Unknown
Unknown
MAVS,PANK2
sanders_11_ASD_discovery_cases-11558.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
DEFB126
sanders_11_ASD_discovery_cases-12581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC23A2
sanders_11_ASD_discovery_cases-12710.p1
Maternal
Simplex (trio)
NA
C20orf96
sanders_11_ASD_discovery_cases-12858.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SIRPG
sanders_11_ASD_discovery_cases-13014.p1
Maternal
Simplex (trio)
NA
DEFB126,DEFB127,DEFB128
sanders_11_ASD_discovery_cases-13382.p1
Paternal
Simplex (trio)
NA
SLC23A2
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
SIRPB1
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
SIRPB1
sebat_07_ASD_discovery_cases-71-259100
390K ROMA or Agilent 244K aCGH, FISH, microsatellite
De novo
Simplex
NA
DEFB127,DEFB128,DEFB129,DEFB132,C20orf96,ZCCHC3,SOX12,NRSN2,TRIB3,RBCK1,TBC1D20
sebat_07_ASD_discovery_cases-SK-135-C
390K ROMA or Agilent 244K aCGH, microsatellite
De novo
Simplex
NA
VPS16,PTPRA,GNRH2,MRPS26,OXT,AVP,LOC100134015,UBOX5,FASTKD5,ProSAPiP1,DDRGK1,ITPA,SLC4A11,C20orf194,ATRN,GFRA4,ADAM33,SIGLEC1,HSPA12B,C20orf27,SPEF1,CENPB,CDC25B,C20orf29,MAVS,PANK2,MIR103A2,MIR103B2,RNF24
szatmari_07_ASD_discovery_cases-NAAR041-G10-01C05471
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,ACTG1P3,TMEM74B,C20orf202,MIR6869,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,SDCBP2-AS1,FKBP1A,TRIB3,CSNK2A1,PSMF1,SDCBP2
szatmari_07_ASD_discovery_cases-NAAR041-G7-01C05468
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,TRIB3,CSNK2A1
tammimies_15_ASD_discovery_cases-case3-0360-000
Unknown
Unknown
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,ACTG1P3,TMEM74B,C20orf202,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,SDCBP2-AS1,TRIB3,CSNK2A1,PSMF1,SDCBP2
tropeano_16_ASD_discovery_cases-MAAS10
MLPA or aCGH
Unknown
Unknown
Unknown
DEFB125,DEFB126,DEFB127,DEFB128,DEFB132,ZCCHC3,NRSN2,SRXN1,RPS10P5,DEFB129,C20orf96,NRSN2-AS1,SOX12,RBCK1,TBC1D20,TCF15,SCRT2,SLC52A3,FAM110A,ANGPT4,RSPO4,TRIB3,CSNK2A1
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
SIRPB1
walker_13_ASD_discovery_cases-case2-1368-003
Unknown
Simplex
Unknown
RN7SL561P,SIRPG,SIRPG-AS1,SIRPB1,SIRPB3P
yin_16_ASD_discovery_cases-case580
Unknown
Unknown
Unknown
SIRPB1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10213
Unknown
ACTG1P3,TMEM74B,C20orf202,FAM110A,ANGPT4,RSPO4,RAD21L1,SNPH,PSMF1,SDCBP2
brandler_18_ASD_discovery_controls-controlSSC12925
Not available
Unknown
SLC23A2
engchuan_15_ASD_discovery_controls-control110036014793_
Unknown
NRSN2,NRSN2-AS1,RBCK1,TRIB3
engchuan_15_ASD_discovery_controls-controlB452714_1007872596
Unknown
DEFB126,DEFB127,DEFB128,DEFB129
engchuan_15_ASD_discovery_controls-controlB476424_1007853954
Unknown
DEFB125,DEFB126
engchuan_15_ASD_discovery_controls-controlB529705_1007840923
Unknown
RPS10P5,SLC52A3,FAM110A,ANGPT4,RSPO4
engchuan_15_ASD_discovery_controls-controlHABC_901170_901170
Unknown
SRXN1,SCRT2
engchuan_15_ASD_discovery_controls-controlHABC_902688_902688
Unknown
DEFB126,DEFB127
kanduri_15_ASD_discovery_controls-control_split163
Unknown
Intergenic CNV: nearest genes, ANGPT4(dist=35553),RSPO4(dist=4148)
kanduri_15_ASD_discovery_controls-control_split1729
Unknown
STK35 (splicing location)
krumm_13_ASD_discovery_controls-control12383.s1
Solid phase hybridization (Illumina 1M)
Paternal
Simplex
MAVS
krumm_13_ASD_discovery_controls-control12409.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
C20orf27
krumm_13_ASD_discovery_controls-control12650.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
C20orf27
krumm_13_ASD_discovery_controls-control13101.s1
Paternal
Simplex
MAVS,PANK2
krumm_13_ASD_discovery_controls-control13335.s1
Maternal
Simplex
C20orf27
krumm_15_ASD_discovery_controls-control11530.s1
Illumina 1M
Maternal
DEFB125,DEFB126,DEFB127,DEFB128,DEFB129
leblond_19_ASD_discovery_controls-controlPN400266
Unknown
RPS10P5,SLC52A3,FAM110A,ANGPT4,RSPO4,PSMF1
levy_11_ASD_discovery_controls-12494.s1
Maternal
Simplex
NA
DEFB125
levy_11_ASD_discovery_controls-12581.s1
Maternal
Simplex
NA
SLC23A2
nord_11_ASD_discovery_controls-04C28280
GFRA4,ADAM33
poultney_13_ASD_discovery_controls-control04C37985A
Unknown
DEFB126,DEFB127,DEFB128
sanders_11_ASD_discovery_controls-11530.s1
Maternal
Simplex (quad)
NA
DEFB125,DEFB126,DEFB127,DEFB128,DEFB129
sanders_11_ASD_discovery_controls-12383.s1
Paternal
Simplex (quad)
NA
MAVS
sanders_11_ASD_discovery_controls-12581.s1
Maternal
Simplex (quad)
NA
SLC23A2
sanders_11_ASD_discovery_controls-12858.s1
Maternal
Simplex (quad)
NA
SIRPG
No Animal Model Data Available