19p13.2CNV Type: Deletion-Duplication
Largest CNV size: 459191 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion-Duplication
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Behavioral characteristics associated with 19p13.2 microdeletions.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Deletion
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
3363119
1
0
1
bassuk_13_ID/EP_discovery_cases
Affected individuals in a family (two siblings and their mother) with intellectual disability and epilepsy
3
Intellectual disability (ID) and epilepsy (EP)
N/A
33.3% Male
900000
3
0
3
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
286450
2
1
3
ceylan_18_DD/ID_discovery_cases
Patients examined at the department of genetics between May 2016 and April 2017
124
Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
Range, 15 days-17 years
58.87% Male
2200000
1
0
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
985480
1
2
3
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
31127
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
60992
7
1
8
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
809999
1
1
2
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
2259897
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
652390
0
3
3
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
60736
1
0
1
klaassens_14_DD/ASD_discovery_cases
Patients presenting with a Sotos-like phenotype and deletions involving the NFIX gene
4
All four cases present with Malan syndrome/Sotos syndrome 2 and moderate-to-severe severe developmental delay. One case diagnosed with ASD (diagnostic tools N/A).
Range, 2.7-10 yrs.
50% Male
740000
4
0
4
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
9242
0
4
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
678651
N/A
N/A
20
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
2038027
0
1
1
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
61990
2
0
2
laurie_25_ASD/DD/ID_discovery_cases
Individuals with previously undiagnosed rare diseases from 6,004 families from the Solve-Rare Diseases Consortium (Solve-RD) resource for whom systemic reanalysis of exome or genome sequencing data was performed and phenotypic information was annotated using the Human Phenotype Ontology.
6447
"Individuals with autism or autistic features as defined by one or more of the following HPO terms: ""Autism"", ""Autistic behavior"", ""Stereotypy"", or ""Recurrent hand flapping""."
55.71% Male
66203
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
52263
1
4
5
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
175000
0
2
2
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
199000
0
1
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
45860
0
4
4
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
32182
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)
969033
3
9
12
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
15711
4
0
4
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
818000
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
60736
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
459191
9
12
21
trimouille_17_ID_discovery_cases
Patients with 19p13 microduplications encompassing the NFIX gene
9
8/9 cases with intellectual disability; two of these cases also presented with autism spectrum disorder
Range, 10 mos.-16 yrs.
55.56% Male
2341526
0
5
5
welham_15_ASD_discovery_cases
Ten participants recruited through UNIQUE that were confirmed to have a 19p13.2 microdeletion
10
Diagnosis of ASD/autism based on meeting cut-off on Social Communication Questionnaire (SCQ); behavioral evaluation of cases made using the Challenging Behavior Questionnaire (CBQ), the Activity Questionnaire (TAQ), the Mood Interest and Pleasure Questionnaire Short-Form (MIPQ-S), the Repetitive Behavior Questionnaire (RBQ), and a modified version of the Sleep Questionnaire (ISQm); self-help subscale of Wessex scale used as an approximate indicator of intellectual disability.
Range, 2-20 yrs.
40% Male
3420000
8
0
8
xiang_21_ASD/DD/ID_discovery_cases
Children with unexplained developmental delay/intellectual disability referred to the Affiliated Suzhou Hospital of Nanjing Medical University (Suzhou, China) from January 2018 to March 2021.
17
All cases presented with developmental delay/intellectual disability (DD/ID), while a subset of cases also presented with autism spectrum disorder (ASD).
Range, 2-9 yrs. (mean, 5.6 yrs.)
88.235% Male
183264
1
0
1
yap_21_ASD_discovery_cases
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
723
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Range, 2-17 yrs.
NA
1854979
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
100146
0
2
2
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
2563
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
1073
1
0
1
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
146199
11
3
14
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
0
0
0
0
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
12002
0
4
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
66035
8
5
13
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
61990
1
0
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
52263
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
447789
4
1
5
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)
15711
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.
66448
6
5
11
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
100146
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
bassuk_13_ID/EP_discovery_cases
N/A
aCGH
Agilent SurePrint G3 1M array
Genome Workbench
None
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
ceylan_18_DD/ID_discovery_cases
Turkish
Array SNP
Affymetrix CytoScan Optima
ChAS v.3.1
None
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
qPCR
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
Microarray
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
klaassens_14_DD/ASD_discovery_cases
1 British, 1 Chinese, 1 Italian, 1 British/Afro-Caribbean
aCGH
NimbleGen 135K
GenePix Pro 7, DEVA v1.01, Infoquant Fusion v6.0
qPCR
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
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
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
laurie_25_ASD/DD/ID_discovery_cases
European
Exome sequencing, genome sequencing
ClinCNV, Conifer, ExomeDepth
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or 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
trimouille_17_ID_discovery_cases
France (n=6), UK (n=1), Italy (n=1), New Zealand (n=1)
aCGH, array SNP
60K array, 44K array
qPCR, FISH
welham_15_ASD_discovery_cases
5 from United Kingdom, 3 from United States, 1 from Australia, 1 from Canada
N/A
N/A
N/A
N/A
N/A
xiang_21_ASD/DD/ID_discovery_cases
China
WES
Illumina NovaSeq 6000
NA
XHMM, PCA, CNVKit
qPCR
yap_21_ASD_discovery_cases
Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
Solid phase hybridization
Illumina Global Screening Array v1 and v2
PennCNV, iPattern
GenomeStudio v.2.0.4
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
egger_14_ASD_discovery_controls
European
N/A
N/A
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
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
larson_17_ASD_discovery_controls
N/A
N/A
N/A
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
akkus_24_ASD/DD/ID_discovery_cases-case22B
3 yrs.
M
Developmental delay/intellectual disability, epilepsy, and learning disability
Developmental delay/intellectual disability, epilepsy, speech delay.
Developmental delay/intellectual disability, learning disability.
8641646
12004764
3363119
GRCh38
Deletion
No
bassuk_13_ID/EP_discovery_cases-case1
N/A
M
Intellectual disability and epilepsy
Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: affected sister (bassuk_13_ID/EP_discovery_cases-case2) and mother (bassuk_13_ID/EP_discovery_cases-case3) also carry 19p13.2 deletion; reportedly unaffected father (deceased) and maternal grandparents.
Intellectual disability; Stanford-Binet IQ: 60
11589185
12489186
900002
GRCh38
Deletion
No
bassuk_13_ID/EP_discovery_cases-case2
N/A
F
Intellectual disability and epilepsy
Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: affected brother (bassuk_13_ID/EP_discovery_cases-case1) and mother (bassuk_13_ID/EP_discovery_cases-case3) also carry 19p13.2 deletion; reportedly unaffected father (deceased) and maternal grandparents.
Intellectual disability; Stanford-Binet IQ: 64
11589185
12489186
900002
GRCh38
Deletion
No
bassuk_13_ID/EP_discovery_cases-case3
N/A
F
Intellectual disability and epilepsy
Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: two affected children (bassuk_13_ID/EP_discovery_cases-case1 and bassuk_13_ID/EP_discovery_cases-case2), both of whom inherited 19p13.2 deletion; reportedly unaffected parents (mother negative for 19p13.2 deletion, father N/A).
Intellectual disability; Stanford-Binet IQ: 80
11589185
12489186
900002
GRCh38
Deletion
No
brandler_18_ASD_discovery_cases-caseREACH000467
N/A
M
ASD
Case from REACH cohort
11172925
11459235
286311
GRCh38
Duplication
No (false positive)
brandler_18_ASD_discovery_cases-caseSJD_55.3
N/A
M
ASD
Case from REACH cohort
10439445
10446857
7413
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSJD_68.3
N/A
F
ASD
Case from REACH cohort
10690569
10690983
415
GRCh38
Deletion
Yes
ceylan_18_DD/ID_discovery_cases-case19
9 mos.
N/A
Developmental delay
Developmental milestones: developmental delay. Dysmorphic features: deep set eyes, micrognatia. Other findings: hypotonia.
11173862
13444846
2270985
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299787
N/A
M
Developmental delay/intellectual disability
12322966
13308445
985480
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_299888
N/A
M
Developmental delay/intellectual disability
9568092
9692729
124638
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300041
N/A
M
Developmental delay/intellectual disability
13216825
13365414
148590
GRCh38
Duplication
No
egger_14_ASD_discovery_cases-caseA161
25 yrs. (born 1989)
M
ASD
Diagnosis: Asperger syndrome. Co-morbidities/additional features: none reported. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Normal IQ
11919443
11950569
31127
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14020_400
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6957866
7018858
60993
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14141_2390
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12398722
12429289
30568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14379_4920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12389335
12429289
39955
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14391_5000
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12389335
12429289
39955
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18182_303
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6957866
7018858
60993
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4177_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6957866
7018858
60993
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8451_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7063361
7105125
41765
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8719_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6957866
7018858
60993
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-12426.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
7999117
8808324
809208
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14075.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
10465424
10475749
10326
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-case19D0902
3 yrs. 3 mos.
M
Developmental delay/Intellectual disability
10647242
12907138
2259897
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001176
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7194917
7827432
632516
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004309
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11138895
11549951
411057
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004614
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11807758
11868554
60797
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case2974
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
6958134
7018869
60736
Unknown
Deletion
No
klaassens_14_DD/ASD_discovery_cases-case1
10 yrs.
M
Malan syndrome, developmental delay, and ASD
Case diagnosed with ASD (diagnostic tools N/A). Birth/neonatal history: pregnancy complicated by vaginal bleeding at 9 weeks and premature contractions at 28 weeks gestation; birth weight of 2490 g at 37 weeks gestation (-1.3 SD). Developmental milestones: delayed motor milestones (sat unsupported at 1 years, crawled at 18 months, walked at around 2.5-3 years). Language and communication evaluation: spoke several words, but no sentences, at age of 3 years. Motor and musculoskeletal evaluation: mild scoliois of the thoracic spine, mild pectus excavatum, bone age was 3.5 yrs at chronological age of 3 years (1 SD above mean). Behavioral/psychiatric evaluation: behavioral difficulties. Epilepsy/seizures: positive. Dysmorphic features: plagiocephaly, prominent forehead, facial asymmetry, low posterior hairline. Growth parameters: height 152.0 cm (+2.2 SD), weight 45.5 kg (+1.7 SD), OFC 55.5 cm (+0.7 SD). Family history: first child of healthy unrelated British parents.
Moderate developmental delay
12986968
13098690
111723
GRCh38
Deletion
Yes
klaassens_14_DD/ASD_discovery_cases-case2
3.5 yrs.
F
Malan syndrome and developmental delay
Birth/neonatal history: born by forceps delivery at 42 weeks gestation; birth weight N/A. Developmental milestones: sat unsupported at 12 months, first independent steps at 2.5 years. Language and communication evaluation: said 'dada', but no other clear words, at age of 3.5 years. Motor and musculoskeletal evaluation: pectus excavatum. Visual evaluation: nystagmus, strabismus. Dysmorphic features: scaphocephaly, prominent forehead, depressed nasal bridge, deep-set eyes, high arched palate, significant drooling. Growth parameters: height 94.5 cm (+1.0 SD), weight 14.1 kg (+0.7 SD), OFC 51.1 cm (+1.0 SD). Family history: only child of healthy unrelated Chinese parents.
Moderate developmental delay
12613662
13400245
786584
GRCh38
Deletion
Yes
klaassens_14_DD/ASD_discovery_cases-case3
2.7 yrs.
F
Malan syndrome and developmental delay
Birth/neonatal history: born at term after uneventful pregnancy; birth weight 3.6 kg (+0.5 SD). Developmental milestones: first walked at 2.5 years. Motor and musculoskeletal evaluation: pectus excavatum. Epilepsy/seizures: one febrile seizure. Visual evaluation: oculomotor dyspraxia, intermittent end-gaze horizontal strabismus, intermittent covergent squint. Dysmorphic features: prominent forehead, slightly downslanting palpebral fissures. Growth parameters: height 93.4 cm (+0.5 SD), weight 15.4 kg (+1.3 SD), OFC 52 cm (+1.6 SD). Family history: born to healthy unrelated Italian parents.
Moderate developmental delay
12986968
13400245
413278
GRCh38
Deletion
Yes
klaassens_14_DD/ASD_discovery_cases-case4
5.5 yrs.
M
Malan syndrome and developmental delay
Birth/neonatal history: born at 39 weeks gestation; birth weight 4.1 kg (+1.1 SD); hypertonic at birth with flexed posture and adducted thumbs; mild contractures of joiints that resolved spontaneously in first year. Developmental milestones: global developmental delay; standing at 2.5 years, walking at 4.5 years. Language and communication evaluation: babbling but no words at 5.5 years. Brain imaging: brain MRI at ageof 8 weeks showed delayed myelination. Visual evaluation: strabismus; left divergent squint, visual evoked potential examination showing post-retinal dysfunction bilaterally. Dysmorphic features: scaphocephaly, prominent forehead. Growth parameters: height 128 cm (+2.8 SD), weight 30.5 kg (+3.9 SD), OFC 59 cm (+2.9 SD).
Severe developmental delay
12701780
13266183
564404
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11479.p1
N/A
M
ASD
ASD proband from SSC quad family 11479. SRS score of 79.
Full-scale IQ (FSIQ) score of 133.
11430898
11438124
7227
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12616.p1
N/A
M
ASD
ASD proband from SSC quad family 12616. SRS score of 63.
Full-scale IQ (FSIQ) score of 111.
8094445
8103687
9243
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12626.p1
N/A
M
ASD
ASD proband from SSC quad family 12626. SRS score of 87.
Full-scale IQ (FSIQ) score of 92.
7075074
7083744
8671
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13504.p1
N/A
M
ASD
ASD proband from SSC quad family 13504. SRS score of 77.
Full-scale IQ (FSIQ) score of 64.
7081359
7083744
2386
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11028.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
10701949
10713270
11322
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11028.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
10830126
10848539
18414
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11479.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
11430898
11438124
7227
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11679.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
7669326
7697589
28264
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12368.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
11402649
11406864
4216
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12426.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
7898660
8577312
678653
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12532.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
6974299
6991132
16834
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12572.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
12943532
12943915
384
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12616.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
8094445
8103687
9243
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12941.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
6974299
6989162
14864
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13015.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type:
9757474
9759942
2469
GRCh38
N/A
Yes
krumm_15_ASD_discovery_cases-case13043.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
7745517
7766207
20691
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13139.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6985989
6991132
5144
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13234.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
10018730
10021749
3020
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13585.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6974299
6989162
14864
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13620.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
10252253
10271226
18974
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13661.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
6974599
6990834
16236
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13911.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
11457109
11514221
57113
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14186.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
7075074
7117410
42337
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14495.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6974299
6989162
14864
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0862
26 yrs.
M
ASD, MDD
Behavioral/psychiatric evaluation: mood disorders, MDD, irritability. Family history: positive for MDD.
IQ > 70
7981357
10019383
2038027
GRCh38
Duplication
N/A
larson_17_ASD_discovery_cases-case109
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.
6951983
7013973
61991
GRCh38
Deletion
No
larson_17_ASD_discovery_cases-case110
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.
6951983
7013973
61991
GRCh38
Deletion
No
laurie_25_ASD/DD/ID_discovery_cases-caseP0012337
M
Developmental delay, autistic behavior, and stereotypy
Autistic behavior/Stereotypy/Delayed speech and language development
10929011
10995213
66203
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11028.p1
NA
M
ASD
NA
NA
10694986
10732744
37759
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11245.p1
NA
M
ASD
NA
NA
8273484
8306010
32527
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11376.p1
NA
M
ASD
NA
NA
8864864
8896188
31325
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11679.p1
NA
M
ASD
NA
NA
7668541
7720803
52263
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11721.p1
NA
M
ASD
NA
NA
7065685
7106627
40943
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown79
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
6908659
7083770
175112
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown80
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
7699386
7784471
85086
GRCh38
Duplication
No
monteiro_19_ASD_discovery_cases_case31
N/A
M
ASD and developmental delay
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: developmental delay. Dysmorphic features: none reported.
12504791
12703302
198512
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case14391_5000
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
12389335
12421516
32182
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case03HI2497B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0907302; NDAR ID NDAR_INVED777VE9)
6986289
6990798
4510
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI2957A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
9381146
9653883
272738
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI2957A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
11614525
12583558
969034
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3174A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
12463994
12583558
119565
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3174A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
9378960
9617080
238121
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0027A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU028503; NDAR ID NDAR_INVXL501PFH)
11614525
12583558
969034
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0582A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU045903; NDAR ID NDAR_INVJU319BGV)
12763280
12766016
2737
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI0922A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
12463994
12583558
119565
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0922A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
9378960
9653883
274924
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0933A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
9381146
9763410
382265
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0933A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
11614525
12583558
969034
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1079A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU052104; NDAR ID NDAR_INVWX701WVK)
6986289
6990798
4510
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case128122
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
12026695
12036494
9800
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60416
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
12026695
12042405
15711
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68785
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
12026695
12036494
9800
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case76821-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
7853837
7862427
8591
Unknown
Deletion
No
roberts_13_ASD/DD/ID_discovery_cases-ASDcase12
4 yrs.
F
ASD
No reported clinical features
10896111
11713863
817753
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1304-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
6958123
7018858
60736
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11028.p1
9
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
10826138
10845249
19112
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
12398722
12429289
30568
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
8150086
8160401
10316
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11376.p1
7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
8865795
8891310
25516
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11437.p1
16.6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
11819824
11886830
67007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
7699031
7720827
21797
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11681.p1
5.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
12398722
12429289
30568
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
9171694
9178363
6670
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11860.p1
6
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
10766165
10770339
4175
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12189.p1
8.8
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
12398722
12429289
30568
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
8302030
8322114
20085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12375.p1
15.9
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
7007096
7010799
3704
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12423.p1
10.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
8302825
8322114
19290
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12426.p1
8.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
7896891
7928091
31201
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12426.p1
8.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
8063707
8522898
459192
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12444.p1
9.5
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
7007096
7010799
3704
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12532.p1
11.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
6957866
7018858
60993
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12616.p1
4.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
8094478
8102946
8469
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
8302030
8324636
22607
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12690.p1
11.6
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
12386120
12429289
43170
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12941.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
6974935
7013874
38940
GRCh38
Duplication
No
trimouille_17_ID_discovery_cases-case4
5 yrs.
F
Intellectual disability
Case present in DECIPHER database (DECIPHER ID 284902). Birth/neonatal history: uneventful pregnancy and delivery. Developmental milestones: mild developmental delay; first words at age of 18 months, started combining them at 3 years; walking at 17 months of age. Motor and musculoskeletal evaluation: brachydactyly of hands and feet; bilateral metacarpophalangeal ankylosis of the first, second, and third fingers; irregularities of proximal metaphyses of F2 and F5; motor restlessness. Behavioral/psychiatric evaluation: stereotypies; hand flapping; sleep disorder; poor concentration; onychotillomania. Dysmorphic features: full cheeks, everted and thick lower lip. Growth parameters: height 0 SD, weight +2 SD, head circumference 0 SD. Family history: second child of a 2-sibling family; no familial medical history.
Intellectual disability
12633717
13427228
793512
GRCh38
Duplication
Yes
trimouille_17_ID_discovery_cases-case5
10 yrs.
F
Intellectual disability
Case present in DECIPHER database (DECIPHER ID 258888). Birth/neonatal history: mother followed for gestational diabetes, obesity, and hypothyroidism treated by L-thyroxin during pregnancy; born at 37 weeks gestation by C-section; birth weight 2800 g (50th %ile), length 48 cm (60th %ile). Developmental milestones: developmental delay, especially regarding language skills. Motor and musculoskeletal evaluation: brachydactyly; hypotonia; kyphosis; bone age delay (one-year delay of bone maturation found by X-rays at 6 years of age); valgus deformation of knees. Additonal medical history: astigmatism; hyperopia; exotropia; tendency to constipation with encopresis. Dysmorphic features: full cheeks, arched eyebrows, everted and thick lower lip; coarse face; unilateral single palmar crease. Growth parameters: slowing of growth velocity between 6 months and 2 years of age; height -2.5 SD, weight 0 SD, head circumference -2 SD. Family history: first child born to a non-consanguineous couple.
Intellectual disability
12886826
13500192
613367
GRCh38
Duplication
Yes
trimouille_17_ID_discovery_cases-case6
10 mos.
F
MCA
Case present in DECIPHER database (DECIPHER ID 301615). Birth/neonatal history: ultrasound reported short femurs at 7th %ile; hydramnios for which Bartter syndrome was suspected, but infirmed after amniotic fluid and postnatal blood biochemical analyses; born at 36 weeks gestation; birth weight 2610 g (54th %ile), length 43 cm (5th %ile), head circumference 32 cm (32nd %ile); stridor during neonatal period. Motor and musculoskeletal evaluation: brachydactyly; bone age delay (bone maturation delay of 5 months at age of 6 months); talus valgus; bialteral 2/3 toe syndactyly; acromicria with low set thumbs and 5th fingers. Additional medical history: atrial septal defect; diffues eczema; 3 week episode of hematuria of unknown etiology. Growth parameters: failure to thrive; height -3 SD, weight -2 SD, head circumference -3 SD.
12886826
13365414
478589
GRCh38
Duplication
No
trimouille_17_ID_discovery_cases-case7
10 yrs.
M
Intellectual disability
Case present in DECIPHER database (DECIPHER ID 269163). Birth/neonatal history: born at full term by vaginal delivery; birth weight 2800 g (8th %ile), length 47 cm (6th %ile); hospitalized for respiratory distress during neonatal period. Developmental milestones: delayed development. Motor and musculoskeletal evaluation: bone age delay (delayed bone age of 4 years at age of 10 years). Additional medical history: eczema, asthma, atopic dermatitis; lagophthalmos with superficial punctate keratopathy. Dysmorphic features: full cheeks, arched eyebrows, everted and thick lower lip. Growth parameters: height -2 SD, weight 0 SD, head circumference < -2 SD.
Intellectual disability (total IQ of 60)
10990377
13324317
2333941
GRCh38
Duplication
Yes
trimouille_17_ID_discovery_cases-case9
2.5 yrs.
M
Intellectual disability
Case present in DECIPHER database (DECIPHER ID 338712). Birth/neonatal history: uneventful pregnancy and delivery; born at full term; birth weight 2815 g (8.5th %ile), length 46 cm (2nd %ile), head circumference 32.5 cm (5.5th %ile); failure to thrive reported at 22 months of age. Developmental milestones: developmental delay; sitting at 12 months of age, walking at 19 months; speech delay. Language and communication evaluation: poor vocabulary, pronounciation difficulties, able to combine 2-3 words and speak in jargon. Motor and musculoskeletal evaluation: brachydactyly; bone age delay (delayed bone maturation of 6 months at age of 20 months, carpal and finger maturation assessed as equivalent to 12 months and 32-36 months respectively at age fo 3 years); bilateral fifth figner clinodactyly. Behavioral/psychiatric evaluation: self-injurious and behavioral disorders due to communication difficulties reported at 22 months of age; improvement in communication skills improved behavior and was described as a friendly and sociable child. Additional medical history: congenital dermal melanocytosis. Dysmorphic features: full cheeks, everted and thick lower lip, synophrys, broad eyebrows, upslanted palpebral fissures, epicanthic folds. Growth parameters: height -2.5 SD, weight -2 SD, head circumference -2 SD. Family history: only child born to non-consanguineous parents.
Intellectual disability
10967057
13308445
2341389
GRCh38
Duplication
Yes
welham_15_ASD_discovery_cases-case1
2 yrs.
F
Not ASD
Language and communication evaluation: fewer than 30 words or signs. Motor and musculoskeletal evaluation: not walking independently. Behavioral/psychiatric evaluation: 1 clinically significant repetitive behavior on RBQ. Visual and auditory evaluation: vision not reported to be normal; hearing reported to be normal. Additional medical history: eye problems, pectius excavatum.
Self-help category (Wessex self-help subscale): partly able.
12663315
13400236
736922
GRCh38
Deletion
N/A
welham_15_ASD_discovery_cases-case3
4 yrs.
F
Not ASD
Case failed to meet criteria for ASD using SCQ (total SCQ score of 12). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 2 clinically significant repetitive behaviors on RBQ; meets clinical cut-off for impulsivity (95th %ile) on TAQ; meets clinical cut-off for overactivity (95th %ile) on TAQ; self-injurious behavior and aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ); sleep score in "problem" range (ISQm). Visual and auditory evaluation: vision reported to be normal; hearing reported to be normal. Additional medical history: ear problems, dental problems, gastrointestinal difficulties, bowel problems, liver or kidney problems, skin problems.
Self-help category (Wessex self-help subscale): partly able.
N/A
N/A
N/A
Unknown
Deletion
N/A
welham_15_ASD_discovery_cases-case4
4 yrs.
F
ASD
Case met criteria for ASD using SCQ (total SCQ score of 16). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 9 clinically significant repetitive behaviors on RBQ; self-injurious behavior and aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ); sleep score in "problem" range (ISQm). Epilepsy/seizures: positive for epilepsy/seizures/neurological referrals. Visual and auditory evaluation: vision reported to be normal; hearing reported to be normal. Additional medical history: gastrointestinal difficulties, heart abnormalities or circulatory problems, dysphoria and aspiration.
Self-help category (Wessex self-help subscale): partly able.
10627321
12022169
1395000
Unknown
Deletion
N/A
welham_15_ASD_discovery_cases-case5
7 yrs.
M
ASD
Case met criteria for ASD using SCQ (total SCQ score of 21). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 13 clinically significant repetitive behaviors on RBQ; self-injurious behavior and aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ); sleep score in "problem" range (ISQm). Epilepsy/seizures: positive for epilepsy/seizures/neurological referrals. Visual and auditory evaluation: vision not reported to be normal; hearing reported to be normal. Additional medical history: eye problems, ear problems, cleft palate, gastrointestinal difficulties, heart abnormalities or circulatory problems, problems with genitalia, lung or respiratory problems, skin problems.
Self-help category (Wessex self-help subscale): partly able.
8669166
12088185
3419020
GRCh38
Deletion
N/A
welham_15_ASD_discovery_cases-case6
7 yrs.
F
ASD
Case met criteria for ASD using SCQ (total SCQ score of 17). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 4 clinically significant repetitive behaviors on RBQ; aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ). Visual and auditory evaluation: vision not reported to be normal; hearing reported to be normal. Additional medical history: dental problems, cleft palate, skin problems.
Self-help category (Wessex self-help subscale): able.
10175457
10929781
754325
GRCh38
Deletion
N/A
welham_15_ASD_discovery_cases-case7
9 yrs.
M
Autism
Case met criteria for autism using SCQ (total SCQ score of 30). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 7 clinically significant repetitive behaviors on RBQ; self-injurious behavior and aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ); sleep score in "problem" range (ISQm). Visual and auditory evaluation: vision not reported to be normal; hearing not reported to be normal. Additional medical history: eye problems, ear problems, dental problems, gastrointestinal difficulties, bowel problems, problems with genitalia.
Self-help category (Wessex self-help subscale): partly able.
9735443
11228001
1492559
GRCh38
Deletion
N/A
welham_15_ASD_discovery_cases-case8
16 yrs.
F
Not ASD
Case failed to meet criteria for ASD using SCQ (total SCQ score of 14). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 4 clinically signficant repetitive behaviors on RBQ; sleep score in "problem" range (ISQm). Epilepsy/seizures: positive for epilepsy/seizures/neurological referrals. Visual and auditory evaluation: vision not reported to be normal; hearing reported to be normal. Additional medical history: eye problems, dental problems, cleft palate, gastrointestinal difficulties, bowel problems, heart abnormalities or circulatory problems, hernia, liver or kidney problems, diabetes or thyroid fucntion problems.
Self-help category (Wessex self-help subscale): able.
10164429
10760368
595940
GRCh38
Deletion
N/A
welham_15_ASD_discovery_cases-case9
16 yrs.
M
ASD
Case met criteria for ASD using SCQ (total SCQ score of 19). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 3 clinically significant repetitive behaviors on RBQ; aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ). Epilepsy/seizures: positive for epilepsy/seizures/neurological referrals. Visual and auditory evaluation: vision reported to be normal; hearing reported to be normal. Additional medical history: eye problems, ear problems, dental problems, bowel problems, problems with genitalia, hernia, lung or respiratory problems, diabetes or thyroid function problems, skin problems, very high cholesterol.
Self-help category (Wessex self-help subscale): able.
10666186
11238971
572786
GRCh38
Deletion
N/A
xiang_21_ASD/DD/ID_discovery_cases-caseP16
6 yrs.
M
Developmental delay and intellectual disability
Global developmental delay, neonatal feeding difficulties, strabismus
Moderate intellectual disability
12933528
13116791
183264
GRCh38
Deletion
Yes
yap_21_ASD_discovery_cases-case3305052
NA
M
ASD
MSEL non-verbal score 76 and composite score 58
10498642
12353620
1854979
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case541
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
7112100
7212245
100146
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case542
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
12405336
12435375
30040
GRCh38
Duplication
No
yuan_23_ASD_discovery_cases-qma01348s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
11059504
11062066
2563
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC00773
N/A
F
Control
Control from SSC_phase1 cohort
11040330
11041403
1074
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB120069_1007854769
N/A
N/A
Control
No previous psychiatric history
6957866
7054932
97067
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB201461_1007854130
N/A
N/A
Control
No previous psychiatric history
6957866
7018858
60993
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB290777_1007875864
N/A
N/A
Control
No previous psychiatric history
6951423
7018858
67436
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB299918_1007873981
N/A
N/A
Control
No previous psychiatric history
12405336
12438271
32936
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB317750_1007842099
N/A
N/A
Control
No previous psychiatric history
6957866
7018858
60993
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB673952_1007841010
N/A
N/A
Control
No previous psychiatric history
6957866
7018858
60993
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB746449_1007844499
N/A
N/A
Control
No previous psychiatric history
11804370
11950569
146200
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
N/A
N/A
Control
No previous psychiatric history
12389335
12429289
39955
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB947804_1007875842
N/A
N/A
Control
No previous psychiatric history
8597466
8681665
84200
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900313_900313
N/A
N/A
Control
No previous psychiatric history
12389335
12429289
39955
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900605_900605
N/A
N/A
Control
No previous psychiatric history
9573588
9604755
31168
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901093_901093
N/A
N/A
Control
No previous psychiatric history
6957866
7018858
60993
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901155_901155
N/A
N/A
Control
No previous psychiatric history
6957866
7018858
60993
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902871_902871
N/A
N/A
Control
No previous psychiatric history
6957866
7018858
60993
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12252.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12252. SRS score of 41.
11325397
11337399
12003
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12616.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12616. SRS score of 38.
8094445
8103687
9243
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12626.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12626. SRS score of 45.
7075074
7083744
8671
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12780.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12780. SRS score of 49.
7075074
7083744
8671
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11512.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
12056239
12074159
17921
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11679.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
7669326
7697589
28264
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12041.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
10051977
10056061
4085
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12252.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
11325397
11337399
12003
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12616.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
8094445
8103687
9243
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12821.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
12652362
12658510
6149
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13234.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
10018730
10021749
3020
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13311.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
10256707
10259813
3107
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13585.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6974299
6989162
14864
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13620.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
10252396
10259813
7418
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13632.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
11128007
11194042
66036
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13916.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
12043804
12053261
9458
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14495.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6974299
6991132
16834
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11679.s1
NA
M
Control
NA
NA
7668541
7720803
52263
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37423A
N/A
F
Control
NIMH Control (NIMH ID 25921)
6974625
6990798
16174
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C39233A
N/A
M
Control
NIMH Control (NIMH ID 93495)
8894883
8916899
22017
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C40490A
N/A
M
Control
NIMH Control (NIMH ID 47570)
7524959
7528705
3747
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C41382A
N/A
M
Control
NIMH Control (NIMH ID 66355)
12135769
12583558
447790
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C43560
N/A
F
Control
NIMH Control (NIMH ID 36592)
9828336
9830010
1675
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11117.s1
7.1
F
Control (matched sibling)
NA
NA
6957866
7018858
60993
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11346.s1
12.9
M
Control (matched sibling)
NA
NA
11810065
11837280
27216
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11360.s1
8.4
F
Control (matched sibling)
NA
NA
10338576
10347871
9296
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11679.s1
4
M
Control (matched sibling)
NA
NA
7693308
7720827
27520
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
11129377
11195825
66449
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
10766165
10770339
4175
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
9331837
9339509
7673
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12532.s1
9
F
Control (matched sibling)
NA
NA
6957866
7018858
60993
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12616.s1
7.6
M
Control (matched sibling)
NA
NA
8094478
8106184
11707
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12690.s1
10.6
M
Control (matched sibling)
NA
NA
12386120
12429289
43170
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13018.s1
7.9
M
Control (matched sibling)
NA
NA
12405336
12429289
23954
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akkus_24_ASD/DD/ID_discovery_cases-case22B
Unknown
CDKN2D,ACP5,ELAVL3,CNN1,DNMT1,DNM2,EPOR,OR7E16P,TSPAN16,OR7E24,OR7E25P,OR7E19P,OR7D1P,ECSIT,MRPL4,S1PR5,RDH8,COL5A3,FBXL12,SHFL,ZNF823,ZNF562,DOCK6,RGL3,UBL5,ZNF317,ANGPTL8,SLC44A2,PPAN,ZNF426,KRI1,YIPF2,PLPPR2,ANGPTL6,QTRT1,ELOF1,TIMM29,ZNF439,FDX2,ZNF561,OLFM2,ZNF700,MBD3L1,MUC16,ZNF559,ATG4D,OR7G1,ODAD3,ZNF440,CCDC159,SWSAP1,RAVER1,ZNF491,OR7D4,ZNF653,ZNF441,OR1M1,SPC24,ZNF558,ILF3-DT,ZNF560,OR7D2,ZNF846,ZNF627,ICAM4,ICAM1,ILF3,ICAM3,ZNF561-AS1,C19orf38,ACTL9,ZNF763,OR2Z1,C3P1,ZNF699,TMEM205,OR7H1P,OR7G3,OR7E18P,OR7G2,OR7G15P,ZNF833P,OR1M4P,MIR199A1,HNRNPA1P10,MIR638,SNORD105,PPAN-P2RY11,ZGLP1,SNORD105B,ZNF812P,RPL10P15,LDLR,P2RY11,ELOCP29,RPS4XP22,GAPDHP76,RPL23AP78,BOLA3P2,ZNF887P,MIR1181,MIR1238,MIR4322,ZNF559-ZNF177,MIR4748,MIR5589,RNA5SP464,PIN1-DT,PRKCSH,PIN1,PDE4A,ZNF433-AS1,ZNF426-DT,MIR6793,MIR7974,MIR6886,NFILZ,RNU7-140P,ICAM5,SMARCA4,TYK2,UBE2L4,RN7SL833P,RN7SL192P,EIF3G,ZNF69,ZNF177,ZNF121,HIKESHIP2,S1PR2,AP1M2,RAB3D,KEAP1,ZNF266,TMED1,CARM1,CDC37,KANK2
bassuk_13_ID/EP_discovery_cases-case1
Maternal
Maternal
Multi-generational
Segregated
HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF700,ZNF136,ZNF563
bassuk_13_ID/EP_discovery_cases-case2
Maternal
Maternal
Multi-generational
Segregated
HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF700,ZNF136,ZNF563
bassuk_13_ID/EP_discovery_cases-case3
Unknown (not maternal)
Multi-generational
Segregated
HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF700,ZNF136,ZNF563
brandler_18_ASD_discovery_cases-caseREACH000467
SNP VCF
Unknown
TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,RGL3
brandler_18_ASD_discovery_cases-caseSJD_55.3
PCR or SNP data validation
Paternal
PDE4A
brandler_18_ASD_discovery_cases-caseSJD_68.3
PCR or SNP data validation
Maternal
ILF3
ceylan_18_DD/ID_discovery_cases-case19
De novo
TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,RGL3,ZNF700,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
digregorio_17_DD/ID_discovery_cases-DECIPHER_299787
qPCR
De novo
RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
digregorio_17_DD/ID_discovery_cases-DECIPHER_299888
Maternal
RPS4XP22,ZNF561,ZNF561-AS1,ZNF562,ZNF121,ZNF812P
digregorio_17_DD/ID_discovery_cases-DECIPHER_300041
Unknown
CACNA1A
egger_14_ASD_discovery_cases-caseA161
Microarray
Maternal
Unknown
ZNF700
engchuan_15_ASD_discovery_cases-case14020_400
Unknown
FLJ25758,ADGRE4P
engchuan_15_ASD_discovery_cases-case14141_2390
Unknown
ZNF799
engchuan_15_ASD_discovery_cases-case14379_4920
Unknown
ZNF799
engchuan_15_ASD_discovery_cases-case14391_5000
Unknown
ZNF799
engchuan_15_ASD_discovery_cases-case18182_303
Unknown
FLJ25758,ADGRE4P
engchuan_15_ASD_discovery_cases-case4177_1
Unknown
FLJ25758,ADGRE4P
engchuan_15_ASD_discovery_cases-case8451_201
Unknown
ZNF557
engchuan_15_ASD_discovery_cases-case8719_201
Unknown
FLJ25758,ADGRE4P
girirajan_13a_ASD_discovery_cases-12426.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,ACTL9,OR2Z1,RPL23AP78,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,ADAMTS10,LINC01862,ZNF558,ELAVL1,FBN3,CERS4,RAB11B-AS1
girirajan_13a_ASD_discovery_cases-14075.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
PDE4A
han_22_ASD/DD/ID_discovery_cases-case19D0902
De novo
GET3,ACP5,DNASE2,ELAVL3,DHPS,CNN1,DNM2,EPOR,SNORD41,TSPAN16,WDR83OS,TNPO2,ZNF44,ECSIT,HOOK2,ZNF823,BEST2,DOCK6,RGL3,ZNF490,ANGPTL8,TRIR,YIPF2,PLPPR2,ZNF442,QTRT1,ELOF1,RTBDN,FBXW9,WDR83,TIMM29,ZNF799,ZNF439,ZNF700,ZNF625,ODAD3,ZNF440,CCDC159,SWSAP1,ZNF491,ZNF653,ZNF441,SPC24,ZNF563,ILF3-DT,ZNF433,ZNF709,ZNF791,ZNF627,ZNF564,ILF3,GCDH,ZNF844,C19orf38,ZNF763,SYCE2,RPL10P16,TMEM205,ZNF788P,ZNF833P,MIR199A1,HNRNPA1P10,MIR638,ZNF878,RPS6P25,MAN2B1,JUNB,LDLR,GAPDHP76,RPS29P23,ZNF887P,PPIAP20,RSL24D1P8,ZNF625-ZNF20,MIR5684,MIR4748,RNA5SP465,RNA5SP466,RNA5SP464,RNA5SP467,PRKCSH,PGK1P2,ZNF433-AS1,MIR6793,MIR6794,MIR7974,MIR6886,GNG14,SMARCA4,PRDX2,RN7SL833P,RN7SL192P,MTCO2P27,MTCO1P27,MTND2P40,MTATP6P27,THSD8,ZNF69,ZNF20,ZNF136,HIKESHIP2,RAB3D,ZNF443,RNASEH2A,KLF1,TMED1,CARM1,MAST1,KANK2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001176
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MCOLN1,MIR6792,XAB2,PET100,PCP2,STXBP2,RPS27AP19,RETN,MCEMP1,CD209,RPL21P129,CLEC4GP1,EXOSC3P2,PEX11G,TEX45,ZNF358,PNPLA6,TRAPPC5,FCER2,CLEC4M,INSR,ARHGEF18,CAMSAP3,CLEC4G
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004309
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,SPC24,RGL3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004614
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ZNF491,ZNF440,ZNF439
kanduri_15_ASD_discovery_cases-case2974
Paternal
Unknown
Unknown
EMR4P,FLJ25758 (non-coding RNA, exonic)
klaassens_14_DD/ASD_discovery_cases-case1
qPCR
De novo
NFIX
klaassens_14_DD/ASD_discovery_cases-case2
qPCR
De novo
RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
klaassens_14_DD/ASD_discovery_cases-case3
qPCR
De novo
LYL1,STX10,IER2,RPL12P42,NFIX,NACC1,TRMT1,CACNA1A
klaassens_14_DD/ASD_discovery_cases-case4
qPCR
De novo
SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TNPO2,HOOK2,MAST1,TRMT1,CACNA1A
krumm_13_ASD_discovery_cases-case11479.p1
Maternal
Simplex
Segregated
CCDC151,PRKCSH
krumm_13_ASD_discovery_cases-case12616.p1
Paternal
Simplex
Not segregated
FBN3
krumm_13_ASD_discovery_cases-case12626.p1
Paternal
Simplex
Not segregated
ZNF557
krumm_13_ASD_discovery_cases-case13504.p1
Paternal
Simplex
Not segregated
ZNF557
krumm_15_ASD_discovery_cases-case11028.p1
Illumina 1M
Maternal
Simplex
Segregated
QTRT1
krumm_15_ASD_discovery_cases-case11028.p1
Illumina 1M
Maternal
Simplex
Segregated
TMED1,C19orf38,DNM2
krumm_15_ASD_discovery_cases-case11479.p1
Illumina 1M
Maternal
Simplex
Segregated
CCDC151,PRKCSH
krumm_15_ASD_discovery_cases-case11679.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RETN,MCEMP1,TRAPPC5,FCER2
krumm_15_ASD_discovery_cases-case12368.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RGL3
krumm_15_ASD_discovery_cases-case12426.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
TGFBR3L,SNAPC2,CTXN1,NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,LRRC8E,MAP2K7,TIMM44,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,ELAVL1,FBN3,CERS4,RAB11B-AS1
krumm_15_ASD_discovery_cases-case12532.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
ADGRE4P
krumm_15_ASD_discovery_cases-case12572.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CALR
krumm_15_ASD_discovery_cases-case12616.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
FBN3
krumm_15_ASD_discovery_cases-case12941.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ADGRE4P
krumm_15_ASD_discovery_cases-case13015.p1
aCGH
Maternal
Simplex
Unknown
ZNF846
krumm_15_ASD_discovery_cases-case13043.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CD209,RPL21P129,CLEC4M
krumm_15_ASD_discovery_cases-case13139.p1
1M-Duov3
Paternal
Simplex
Segregated
ADGRE4P
krumm_15_ASD_discovery_cases-case13234.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RDH8
krumm_15_ASD_discovery_cases-case13585.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ADGRE4P
krumm_15_ASD_discovery_cases-case13620.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MRPL4,ICAM1
krumm_15_ASD_discovery_cases-case13661.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
ADGRE4P
krumm_15_ASD_discovery_cases-case13911.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
MIR7974,ELAVL3,ZNF653,ECSIT
krumm_15_ASD_discovery_cases-case14186.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
ZNF557,INSR
krumm_15_ASD_discovery_cases-case14495.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ADGRE4P
kushima_18_ASD_discovery_cases-caseASD0862
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,ACTL9,OR2Z1,RPL23AP78,MBD3L1,BOLA3P2,OR1M4P,OR7G2,OR7G1,OR7G15P,OR7G3,OR7D2,ELOCP29,OR7D4,OR7D1P,OR7E24,OR7E18P,OR7E19P,OR7H1P,ZNF426-DT,RPS4XP22,UBE2L4,RPL10P15,UBL5,RDH8,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,ADAMTS10,LINC01862,ZNF558,OR1M1,ZNF317,OR7E16P,OR7E25P,ZNF559,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,ZNF846,FBXL12,PIN1,OLFM2,ELAVL1,FBN3,CERS4,MUC16,ZNF699,ZNF121,ZNF812P,COL5A3,RAB11B-AS1
larson_17_ASD_discovery_cases-case109
Unknown
Unknown
FLJ25758,ADGRE4P
larson_17_ASD_discovery_cases-case110
Unknown
Unknown
FLJ25758,ADGRE4P
laurie_25_ASD/DD/ID_discovery_cases-caseP0012337
Unknown
Simplex
TIMM29,SMARCA4
levy_11_ASD_discovery_cases-11028.p1
Maternal
Simplex
Segregated
QTRT1,MIR638,DNM2
levy_11_ASD_discovery_cases-11245.p1
Paternal
Simplex
Segregated
CD320
levy_11_ASD_discovery_cases-11376.p1
Maternal
Simplex
Segregated
MUC16
levy_11_ASD_discovery_cases-11679.p1
Maternal
Simplex
Not segregated
RETN,MCEMP1,TRAPPC5,FCER2
levy_11_ASD_discovery_cases-11721.p1
Maternal
Simplex
Segregated
ZNF557
maini_18_ASD/DD/ID_discovery_cases-case_unknown79
Maternal
Unknown
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
maini_18_ASD/DD/ID_discovery_cases-case_unknown80
Maternal
Unknown
Unknown
CD209,RPL21P129,FCER2,CLEC4M,CLEC4G
monteiro_19_ASD_discovery_cases_case31
Paternal
MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,TNPO2,ZNF490
pinto_14_ASD_discovery_cases2-case14391_5000
qPCR
Paternal
Simplex
(no siblings)
ZNF799
poultney_13_ASD_discovery_cases-case03HI2497B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ADGRE4P
poultney_13_ASD_discovery_cases-case04HI2957A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF426-DT,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,ZNF121
poultney_13_ASD_discovery_cases-case04HI2957A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF700,ZNF136,ZNF563,ZNF490
poultney_13_ASD_discovery_cases-case04HI3174A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF709,ZNF564,ZNF490
poultney_13_ASD_discovery_cases-case04HI3174A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF426-DT,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF121
poultney_13_ASD_discovery_cases-case98HI0027A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF700,ZNF136,ZNF563,ZNF490
poultney_13_ASD_discovery_cases-case98HI0582A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HOOK2
poultney_13_ASD_discovery_cases-case99HI0922A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF709,ZNF564,ZNF490
poultney_13_ASD_discovery_cases-case99HI0922A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF426-DT,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,ZNF121
poultney_13_ASD_discovery_cases-case99HI0933A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF426-DT,RPS4XP22,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,ZNF846,ZNF121,ZNF812P
poultney_13_ASD_discovery_cases-case99HI0933A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF700,ZNF136,ZNF563,ZNF490
poultney_13_ASD_discovery_cases-case99HI1079A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ADGRE4P
prasad_12_ASD_discovery_cases-case128122
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60416
Unknown
Unknown
Unknown
ZNF844
prasad_12_ASD_discovery_cases-case68785
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case76821-L
Unknown
Unknown
Unknown
LRRC8E
roberts_13_ASD/DD/ID_discovery_cases-ASDcase12
BACs aCGH or FISH
Maternal
Unknown
Unknown
TIMM29,RN7SL192P,MIR6886,TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,YIPF2,LDLR,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,CARM1,SMARCA4,SPC24,RGL3
sajan_13_ACC/CBLH/PMG_discovery_cases-case1304-0
Not tested by qPCR
Unknown
Unknown
Unknown
FLJ25758,ADGRE4P
sanders_11_ASD_discovery_cases-11028.p1
Maternal
Simplex (quad-proband matched)
Segregated
MIR6793,TMED1,C19orf38,DNM2
sanders_11_ASD_discovery_cases-11073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF799
sanders_11_ASD_discovery_cases-11129.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11376.p1
Maternal
Simplex (quad-proband matched)
Segregated
MUC16
sanders_11_ASD_discovery_cases-11437.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF440,ZNF439
sanders_11_ASD_discovery_cases-11679.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FCER2
sanders_11_ASD_discovery_cases-11681.p1
Maternal
Simplex (trio)
NA
ZNF799
sanders_11_ASD_discovery_cases-11765.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11860.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DNM2
sanders_11_ASD_discovery_cases-12189.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF799
sanders_11_ASD_discovery_cases-12266.p1
Unknown
Simplex (trio)
NA
NDUFA7,CD320,RPS28
sanders_11_ASD_discovery_cases-12375.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12423.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
NDUFA7,CD320,RPS28
sanders_11_ASD_discovery_cases-12426.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TGFBR3L,SNAPC2,CTXN1,LRRC8E,MAP2K7,TIMM44
sanders_11_ASD_discovery_cases-12426.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,FBN3,CERS4,RAB11B-AS1
sanders_11_ASD_discovery_cases-12444.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12532.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FLJ25758,ADGRE4P
sanders_11_ASD_discovery_cases-12616.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FBN3
sanders_11_ASD_discovery_cases-12638.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NDUFA7,CD320,RPS28,KANK3
sanders_11_ASD_discovery_cases-12690.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF799
sanders_11_ASD_discovery_cases-12941.p1
Both parents
Simplex (trio)
NA
FLJ25758,ADGRE4P
trimouille_17_ID_discovery_cases-case4
qPCR or FISH (segregation analysis)
De novo
Simplex
Likely segregated
RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
trimouille_17_ID_discovery_cases-case5
qPCR or FISH (segregation analysis)
De novo
KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TRMT1,CACNA1A
trimouille_17_ID_discovery_cases-case6
Unknown
KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TRMT1,CACNA1A
trimouille_17_ID_discovery_cases-case7
qPCR or FISH (segregation analysis)
De novo
RN7SL192P,MIR6886,TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,LDLR,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,SMARCA4,SPC24,RGL3,ZNF700,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
trimouille_17_ID_discovery_cases-case9
qPCR or FISH (segregation analysis)
De novo
RN7SL192P,MIR6886,TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,LDLR,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,SMARCA4,SPC24,RGL3,ZNF700,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,ZNF490,CACNA1A
welham_15_ASD_discovery_cases-case1
CNV validation not reported
Unknown
Unknown
Unknown
WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,TNPO2,HOOK2,MAST1,TRMT1,CACNA1A
welham_15_ASD_discovery_cases-case3
CNV validation not reported
Unknown
Unknown
Unknown
Gene content N/A
welham_15_ASD_discovery_cases-case4
CNV validation not reported
Unknown
Unknown
Unknown
Gene content N/A
welham_15_ASD_discovery_cases-case5
CNV validation not reported
Unknown
Unknown
Unknown
ACTL9,OR2Z1,RPL23AP78,MBD3L1,BOLA3P2,OR1M4P,OR7G2,OR7G1,OR7G15P,OR7G3,OR7D2,ELOCP29,OR7D4,OR7D1P,OR7E24,OR7E18P,OR7E19P,OR7H1P,ZNF426-DT,RPS4XP22,UBE2L4,RPL10P15,UBL5,RDH8,MIR5589,SNORD105,SNORD105B,P2RY11,EIF3G,MIR4322,ICAM4,ICAM5,FDX2,MIR1181,S1PR5,RNU7-140P,MIR1238,KRI1,ILF3-DT,QTRT1,MIR638,MIR4748,MIR199A1,MIR6793,TMED1,TIMM29,RN7SL192P,MIR6886,TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,ZNF558,OR1M1,ZNF317,OR7E16P,OR7E25P,ZNF559,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,ZNF846,FBXL12,PIN1,OLFM2,C3P1,PPAN-P2RY11,PPAN,MRPL4,ICAM1,ZGLP1,RAVER1,ICAM3,CDC37,PDE4A,KEAP1,ATG4D,CDKN2D,AP1M2,ILF3,C19orf38,YIPF2,LDLR,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,MUC16,ZNF699,ZNF121,ZNF812P,COL5A3,C19orf66,ANGPTL6,DNMT1,S1PR2,TYK2,SLC44A2,DNM2,CARM1,SMARCA4,SPC24,RGL3,ZNF700
welham_15_ASD_discovery_cases-case6
CNV validation not reported
Unknown
Unknown
Unknown
MIR4322,ICAM4,ICAM5,FDX2,MIR1181,S1PR5,RNU7-140P,MIR1238,KRI1,ILF3-DT,QTRT1,MIR638,MIR4748,MIR199A1,MIR6793,TMED1,TIMM29,MRPL4,ICAM1,ZGLP1,RAVER1,ICAM3,CDC37,PDE4A,KEAP1,ATG4D,CDKN2D,AP1M2,ILF3,C19orf38,YIPF2,DNMT1,S1PR2,TYK2,SLC44A2,DNM2,CARM1
welham_15_ASD_discovery_cases-case7
CNV validation not reported
Unknown
Unknown
Unknown
UBE2L4,RPL10P15,UBL5,RDH8,MIR5589,SNORD105,SNORD105B,P2RY11,EIF3G,MIR4322,ICAM4,ICAM5,FDX2,MIR1181,S1PR5,RNU7-140P,MIR1238,KRI1,ILF3-DT,QTRT1,MIR638,MIR4748,MIR199A1,MIR6793,TMED1,TIMM29,RN7SL192P,MIR6886,ZNF846,FBXL12,PIN1,OLFM2,C3P1,PPAN-P2RY11,PPAN,MRPL4,ICAM1,ZGLP1,RAVER1,ICAM3,CDC37,PDE4A,KEAP1,ATG4D,CDKN2D,AP1M2,ILF3,C19orf38,YIPF2,LDLR,KANK2,DOCK6,COL5A3,C19orf66,ANGPTL6,DNMT1,S1PR2,TYK2,SLC44A2,DNM2,CARM1,SMARCA4,SPC24
welham_15_ASD_discovery_cases-case8
CNV validation not reported
Unknown
Unknown
Unknown
MIR4322,ICAM4,ICAM5,FDX2,MIR1181,S1PR5,RNU7-140P,MIR1238,KRI1,ILF3-DT,QTRT1,MIR638,MRPL4,ICAM1,ZGLP1,RAVER1,ICAM3,CDC37,PDE4A,KEAP1,ATG4D,CDKN2D,AP1M2,ILF3,DNMT1,S1PR2,TYK2,SLC44A2,DNM2
welham_15_ASD_discovery_cases-case9
CNV validation not reported
Unknown
Unknown
Unknown
QTRT1,MIR638,MIR4748,MIR199A1,MIR6793,TMED1,TIMM29,RN7SL192P,MIR6886,ILF3,C19orf38,YIPF2,LDLR,KANK2,DOCK6,ANGPTL8,DNM2,CARM1,SMARCA4,SPC24
xiang_21_ASD/DD/ID_discovery_cases-caseP16
qPCR
De novo
CALR,FARSA,TRMT1,GADD45GIP1,DAND5,LYL1,NFIX,RAD23A,MIR6515
yap_21_ASD_discovery_cases-case3305052
Unknown
CDKN2D,ACP5,ELAVL3,EPOR,CNN1,DNM2,TSPAN16,ZNF44,ECSIT,ZNF823,S1PR5,DOCK6,SLC44A2,ANGPTL8,RGL3,YIPF2,PLPPR2,KRI1,ZNF442,ELOF1,QTRT1,ZNF625,ATG4D,TIMM29,ZNF700,ZNF439,ZNF440,ZNF441,SWSAP1,ZNF491,ZNF653,CCDC159,ZNF563,ILF3-DT,SPC24,ZNF627,ZNF433,ILF3,ZNF844,ZNF763,C19orf38,TMEM205,ZNF788P,MIR199A1,ZNF833P,HNRNPA1P10,MIR638,ZNF878,LDLR,GAPDHP76,MIR1238,ZNF887P,RSL24D1P8,ZNF625-ZNF20,MIR4748,RNA5SP467,RNA5SP464,RNA5SP466,RNA5SP465,PRKCSH,ZNF433-AS1,MIR6886,MIR6793,MIR7974,RNU7-140P,SMARCA4,RN7SL833P,RN7SL192P,ZNF20,ZNF136,ZNF69,HIKESHIP2,RAB3D,KEAP1,AP1M2,TMED1,CARM1,KANK2
yin_16_ASD_discovery_cases-case541
Unknown
Unknown
Unknown
INSR
yin_16_ASD_discovery_cases-case542
Unknown
Unknown
Unknown
ZNF443
yuan_23_ASD_discovery_cases-qma01348s000
De novo
SMARCA4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC00773
Not available
Paternal
SMARCA4
engchuan_15_ASD_discovery_controls-controlB120069_1007854769
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,ADGRE4P
engchuan_15_ASD_discovery_controls-controlB201461_1007854130
Unknown
FLJ25758,ADGRE4P
engchuan_15_ASD_discovery_controls-controlB290777_1007875864
Unknown
FLJ25758,ADGRE4P
engchuan_15_ASD_discovery_controls-controlB299918_1007873981
Unknown
ZNF443
engchuan_15_ASD_discovery_controls-controlB317750_1007842099
Unknown
FLJ25758,ADGRE4P
engchuan_15_ASD_discovery_controls-controlB673952_1007841010
Unknown
FLJ25758,ADGRE4P
engchuan_15_ASD_discovery_controls-controlB746449_1007844499
Unknown
ZNF491,ZNF440,ZNF439,ZNF69,ZNF700
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
Unknown
ZNF799
engchuan_15_ASD_discovery_controls-controlB947804_1007875842
Unknown
ADAMTS10,LINC01862
engchuan_15_ASD_discovery_controls-controlHABC_900313_900313
Unknown
ZNF799
engchuan_15_ASD_discovery_controls-controlHABC_900605_900605
Unknown
ZNF561,ZNF121
engchuan_15_ASD_discovery_controls-controlHABC_901093_901093
Unknown
FLJ25758,ADGRE4P
engchuan_15_ASD_discovery_controls-controlHABC_901155_901155
Unknown
FLJ25758,ADGRE4P
engchuan_15_ASD_discovery_controls-controlHABC_902871_902871
Unknown
FLJ25758,ADGRE4P
krumm_13_ASD_discovery_controls-control12252.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
TSPAN16,RAB3D
krumm_13_ASD_discovery_controls-control12616.s1
Paternal
Simplex
FBN3
krumm_13_ASD_discovery_controls-control12626.s1
Paternal
Simplex
ZNF557
krumm_13_ASD_discovery_controls-control12780.s1
Paternal
Simplex
ZNF557
krumm_15_ASD_discovery_controls-control11512.s1
Illumina 1M
Maternal
RNA5SP466,ZNF844
krumm_15_ASD_discovery_controls-control11679.s1
Illumina 1MDuo
Maternal
RETN,MCEMP1,TRAPPC5,FCER2
krumm_15_ASD_discovery_controls-control12041.s1
Illumina 1MDuo
Maternal
C3P1
krumm_15_ASD_discovery_controls-control12252.s1
Illumina 1MDuo
Maternal
TSPAN16,RAB3D
krumm_15_ASD_discovery_controls-control12616.s1
Illumina 1MDuo
Paternal
FBN3
krumm_15_ASD_discovery_controls-control12821.s1
Illumina 1MDuo
Maternal
MAN2B1
krumm_15_ASD_discovery_controls-control13234.s1
1M-Duov3
Maternal
RDH8
krumm_15_ASD_discovery_controls-control13311.s1
1M-Duov3
Maternal
MRPL4
krumm_15_ASD_discovery_controls-control13585.s1
1M-Duov3
Maternal
ADGRE4P
krumm_15_ASD_discovery_controls-control13620.s1
1M-Duov3
Maternal
MRPL4
krumm_15_ASD_discovery_controls-control13632.s1
Omni2.5-4v1
Paternal
LDLR,KANK2,SPC24
krumm_15_ASD_discovery_controls-control13916.s1
Omni2.5-4v1
Maternal
ZNF878,ZNF433-AS1
krumm_15_ASD_discovery_controls-control14495.s1
Omni2.5-4v1
Paternal
ADGRE4P
levy_11_ASD_discovery_controls-11679.s1
Maternal
Simplex
NA
RETN,MCEMP1,TRAPPC5,FCER2
poultney_13_ASD_discovery_controls-control04C37423A
Unknown
ADGRE4P
poultney_13_ASD_discovery_controls-control05C39233A
Unknown
MUC16
poultney_13_ASD_discovery_controls-control05C40490A
Unknown
MCOLN1
poultney_13_ASD_discovery_controls-control05C41382A
Unknown
ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF136,ZNF563,ZNF490
poultney_13_ASD_discovery_controls-control05C43560
Unknown
UBL5
sanders_11_ASD_discovery_controls-11117.s1
Paternal
Simplex (quad)
NA
FLJ25758,ADGRE4P
sanders_11_ASD_discovery_controls-11346.s1
Maternal
Simplex (quad)
NA
ZNF440
sanders_11_ASD_discovery_controls-11360.s1
Paternal
Simplex (quad)
NA
ICAM3
sanders_11_ASD_discovery_controls-11679.s1
Maternal
Simplex (quad)
NA
FCER2
sanders_11_ASD_discovery_controls-11794.s1
Maternal
Simplex (quad)
NA
LDLR,KANK2,SPC24
sanders_11_ASD_discovery_controls-11860.s1
Unknown
Simplex (quad)
NA
DNM2
sanders_11_ASD_discovery_controls-12052.s1
Maternal
Simplex (quad)
NA
ZNF559,ZNF559-ZNF177
sanders_11_ASD_discovery_controls-12532.s1
Paternal
Simplex (quad)
NA
FLJ25758,ADGRE4P
sanders_11_ASD_discovery_controls-12616.s1
Paternal
Simplex (quad)
NA
FBN3
sanders_11_ASD_discovery_controls-12690.s1
Paternal
Simplex (quad)
NA
ZNF799
sanders_11_ASD_discovery_controls-13018.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available