19p13.3CNV Type: Deletion-Duplication
Largest CNV size: 738977 bp
Statistics Box:
Number of Reports: 36
Number of Reports: 36
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
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.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
880101
0
1
1
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
486000
0
1
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
27146
5
0
5
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
6517
1
1
2
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
4361487
0
3
3
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
26558
0
1
1
egle_16_DD/ID_discovery_cases
Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
66
All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
N/A
N/A
500000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
59086
1
6
7
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
1010461
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
691523
2
0
2
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
571422
0
1
1
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
239761
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
4927188
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
4465919
9
11
20
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
26607
4
2
6
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
250501
13
31
44
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
1056685
0
2
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
39695
0
2
2
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
1074195
1
0
1
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
657000
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
17000
1
0
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
519019
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
738977
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)
103997
1
4
5
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
138545
4
6
10
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
576494
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
76597
1
4
5
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
261196
21
17
38
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
1016000
1
0
1
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
2010279
0
1
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
59086
0
1
1
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
235879
1
0
1
wenger_16_22q11DS_discovery_cases
Children with 22q11.21 deletion syndrome screened for "second hit" CNVs affecting one or more genes involving in mGluR signlaing
75
All 75 cases diagnosed with 22q11.2 deletion syndrome (22q11DS); 25 of these cases also present with ASD
N/A
N/A
65900
0
1
1
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
11470
2
0
2
woodward_19_ASD/DD/ID_discovery_cases
Individuals with atypical nested 22q11.21 duplications between LCR22B and LCR22D presenting with neurodevelopmental phenotypes
9
7 individuals were formally diagnosed with ASD, while 2 others presented with autistic features; developmental delay and/or intellectual disability were observed in 8/9 individuals.
Range, 5 yrs. 1 mo.-16 yrs.
77.78% Male
340000
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
122299
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
8462
1
0
1
egle_16_DD/ID_discovery_controls
CNVs from the Database of Genomic Variants (DGV)
N/A
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
301230
5
9
14
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
1010461
0
0
0
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
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
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
35182
0
4
4
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
29035
2
1
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
300473
8
27
35
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
320089
0
4
4
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)
17310
1
2
3
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)
138545
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.
313928
12
18
30
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
404697
0
3
3
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
59086
N/A
N/A
N/A
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
0
0
0
0
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
122299
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
egle_16_DD/ID_discovery_cases
Lithuania
aCGH
Agilent 60K, Agilent 105K, or Agilent 1M
ADM-2
Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
FISH or RT-PCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_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)
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
wang_18_TS_discovery_cases
N/A
WES
Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
CoNIFER
qPCR
wenger_16_22q11DS_discovery_cases
N/A
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina HumanHap 550, or Illumina Human610-Quad v1.0
PennCNV
None
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
woodward_19_ASD/DD/ID_discovery_cases
N/A
Solid phase hybridization
Illumina Infinium HumanCytoSNP-12 BeadChip
Illumina GenomeStudio, KaryoStudio v.4.1
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
egle_16_DD/ID_discovery_controls
N/A
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_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
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR, Sanger sequencing
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
qPCR
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
annunziata_21_ASD_discovery_cases-caseIB282
NA
F
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
2084538
2964638
880101
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case43
8 yrs. 7 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Moderate DD/ID
5155504
5641836
486333
GRCh38
Duplication
Yes
brandler_18_ASD_replication_cases-case1-0720-003
N/A
M
ASD
Case from MSSNG cohort
5720974
5723544
2571
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case2-1194-003
N/A
M
ASD
Case from MSSNG cohort
798547
798819
273
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case7-0135-003
N/A
M
ASD
Case from MSSNG cohort
5709880
5737025
27146
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU3839303
N/A
M
ASD
Case from MSSNG cohort
6003551
6004893
1343
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseSSC09802
N/A
F
ASD
Case from SSC_phase2 cohort
6023610
6032071
8462
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11455
NA
M
ASD
NA
NA
3456516
3463033
6518
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11461
NA
M
ASD
NA
NA
6427480
6429834
2355
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case188
N/A
M
Developmental delay
Developmental delay, facial dysmorphism and microcephaly
260911
1434509
1173599
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case188
N/A
M
Developmental delay
Developmental delay, facial dysmorphism and microcephaly
1712850
6074336
4361487
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case251
N/A
M
Developmental delay and intellectual disability
Obesity, developmental delay, intellectual disability, facial dysmorphism and ectodermal dysplasia
Intellectual disability
260911
2328486
2067576
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case164
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
1060075
1086632
26558
GRCh38
Duplication
No
egle_16_DD/ID_discovery_cases-case1_1
26 yrs.
M
Intellectual disability
Freckling of the lips and perioral region, dysmorphic features, kyphoscoliosis, broad feet, pes planus, congenital enlargement of kidneys, axonopahty, spastic paraparesis.
Intellectual disability
739176
1258186
519011
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14310_4270
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
474588
520131
45544
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20069_1328001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
474588
512568
37981
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20090_1392002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1924654
1972215
47562
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3276_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
472980
532066
59087
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4379_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
573487
614967
41481
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4522_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
483850
520131
36282
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6179_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
473113
520131
47019
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si43
9
M
Autism
ADOS score: 10. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 114; Non-verbal IQ, 104.
246538
1257000
1010463
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14458.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
2818957
3510480
691524
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-14491.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
2826249
2887717
61469
GRCh38
Deletion
Yes
girirajan_13b_ASD_discovery_cases-9505103679
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
752619
1324042
571424
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case15D1529
23 mos. 15 days
M
Developmental delay and intellectual disability
Facial dysmorphism
Intellectual disability
1386383
1626143
239761
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case18
7 mos.
M
Developmental delay/intellectual disability
Intrauterine growth retardation, cryptorchidism, facial dysmorphisms, camptodactyly, apnea
Developmental delay/intellectual disability
60001
4953176
4893176
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001005
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
259395
2555149
2295755
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001095
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
259395
819679
560285
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001130
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4417986
4721866
303881
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001820
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2926238
4051635
1125398
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001897
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
233565
4699472
4465908
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001963
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4934885
6501642
1566758
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002053
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
591812
1358152
766341
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002218
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3080621
3730716
650096
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002404
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
677680
899104
221425
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002479
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1565575
4108128
2542554
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002589
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
945098
1972299
1027202
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002736
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1727562
2306496
578935
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003912
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
266117
1076399
810283
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003924
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1156372
1228333
71962
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004205
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1143045
1215323
72279
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005088
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
259395
1952650
1693256
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005108
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3554635
4690965
1136331
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005121
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4008560
4763159
754600
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005265
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
259195
1351363
1092169
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005314
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1191935
1253715
61781
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11298.p1
N/A
M
ASD
ASD proband from SSC quad family 11298. SRS score of 90.
Full-scale IQ (FSIQ) score of 141.
2410257
2418138
7882
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12161.p1
N/A
F
ASD
ASD proband from SSC quad family 12161. SRS score of 55.
Full-scale IQ (FSIQ) score of 106.
3807171
3833778
26608
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12358.p1
N/A
F
ASD
ASD proband from SSC quad family 12358. SRS score of 90.
Full-scale IQ (FSIQ) score of 36.
1783027
1784946
1920
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12837.p1
N/A
M
ASD
ASD proband from SSC quad family 12837. SRS score of 86.
Full-scale IQ (FSIQ) score of 89.
3816673
3825407
8735
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13296.p1
N/A
M
ASD
ASD proband from SSC quad family 13296. SRS score of 87.
Full-scale IQ (FSIQ) score of 30.
6681940
6686902
4963
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13815.p1
N/A
M
ASD
ASD proband from SSC quad family 13815. SRS score of 82.
Full-scale IQ (FSIQ) score of 51.
1799946
1802645
2700
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11108.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11229.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11298.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2410257
2418138
7882
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11616.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3937239
3941177
3939
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11681.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
6375701
6387559
11859
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11718.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1032558
1045231
12674
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11845.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11878.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11895.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375701
6387561
11861
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11982.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375701
6389637
13937
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12028.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
6375293
6389637
14345
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12037.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375701
6387559
11859
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12044.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375701
6387559
11859
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12113.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12161.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3807171
3833778
26608
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12229.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
731094
804438
73345
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12350.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
6375293
6389637
14345
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12358.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1783027
1784948
1922
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12361.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12375.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1271966
1272487
522
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12379.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
6375701
6389637
13937
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12379.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
474620
504965
30346
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12515.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12781.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
281387
336173
54787
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12792.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
5455491
5705992
250502
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12837.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3816673
3825407
8735
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12885.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13076.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1805373
1820395
15023
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13226.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13334.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
3094651
3121181
26531
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13502.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375701
6387559
11859
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13544.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3805948
3834983
29036
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13703.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
4325211
4325547
337
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13744.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
327863
362428
34566
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13775.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
2832302
2834852
2551
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13854.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1054569
1059085
4517
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13927.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3807171
3834983
27813
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13973.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14039.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6887608
6897547
9940
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14136.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
5751646
5791141
39496
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14183.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2410257
2418138
7882
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14258.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6380280
6387559
7280
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14393.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2410257
2418138
7882
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14491.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2827616
2878329
50714
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case26
27 yrs.
F
Intellectual disability
Intellectual disability
669306
1725992
1056687
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case6
9 yrs.
M
Intellectual disability
Intellectual disability
1377666
1712860
335195
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11192.p1
NA
M
ASD
NA
NA
3603221
3628441
25221
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12161.p1
NA
F
ASD
NA
NA
3801306
3841000
39695
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case31
NA
M
OCD
Case diagnosed with obsessive compulsive disorder (OCD).
401047
1475241
1074195
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case67
5 yrs.
M
Motor delay
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: cerebral malformations, neurological anomalies. Dysmorphic features: no reported dysmorphic features. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Mild intellectual disability
64447
721353
656907
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam1001Proband10753
N/A
M
ASD
Additional clinical profile info N/A
ID
2936537
2953089
16553
GRCh38
Deletion
No
pfundt_16_nonNDD_discovery_cases-case121
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: STK11 deletion
919873
1438893
519021
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case6358_6
NA
M
Autism
Language delay, cleft palate, retrognathia, short philtrum, hypotelorism, strabismus, sandal gap, normal neurological exam, normal brain MRI
Low normal IQ
4548413
5287389
738977
Unknown
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI2784A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1157303; NDAR ID NDAR_INVHV722KZW)
4222670
4224505
1836
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI2908A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1097302; NDAR ID NDAR_INVFK244CGQ)
4222670
4224505
1836
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0220A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU015204; NDAR ID NDAR_INVUV788KP0)
2098785
2202781
103997
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
3811272
3834983
23712
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0802A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
2410256
2418140
7885
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case100554L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2474824
2482550
7727
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case100580L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
1848425
1877157
28733
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case126573
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
4750961
4760481
9521
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case138820
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
2783059
2794794
11736
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47560
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
2494971
2633515
138545
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47836
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
4021432
4040167
18736
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59724-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2808225
2842101
33877
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
5703322
5743954
40633
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case93185
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
4811980
4849466
37487
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case93912
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
2361209
2369238
8030
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_84
4 yrs.
F
Intellectual disability
Additional clinical information N/A
Intellectual disability
6246127
6822620
576494
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1586-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
604154
651852
47699
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1605-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: no. Intellectual disability: no.
1475392
1538108
62717
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
604154
661080
56927
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
581070
657666
76597
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-207
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
2049315
2080052
30738
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
1022782
1036457
13676
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11011.p1
8.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
5900236
5910084
9849
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11077.p1
12.2
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
474588
520131
45544
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11249.p1
5.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
581070
582253
1184
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11298.p1
15.8
M
Autism
NA
Full-scale IQ, 141; non-verbal IQ, 132; verbal IQ, 143
2409867
2418033
8167
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11334.p1
14.6
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
2812155
2889168
77014
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11382.p1
6.4
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 70; verbal IQ, 94
1781880
1784945
3066
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11407.p1
11.6
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
580575
582693
2119
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
5431254
5456919
25666
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
3198757
3207648
8892
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11455.p1
7.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
472980
518686
45707
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11476.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
2833433
2843535
10103
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11506.p1
7
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
581070
582092
1023
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11564.p1
10.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 89; verbal IQ, 106
6183017
6198522
15506
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
581624
582092
469
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11664.p1
7.3
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 44; verbal IQ, 43
581815
582092
278
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
6192807
6198522
5716
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11718.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
1026478
1047162
20685
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11928.p1
12.6
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
1220005
1235072
15068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11948.p1
9.5
F
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
3196669
3207648
10980
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11948.p1
9.5
F
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
1207205
1245701
38497
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12032.p1
10.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
580349
582092
1744
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12070.p1
14.4
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 77; verbal IQ, 82
581070
582092
1023
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12078.p1
9.2
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
5529577
5555770
26194
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12091.p1
4.4
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
581070
582077
1008
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
1781880
1784945
3066
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
723205
801381
78177
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12358.p1
9.3
F
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
1781880
1784212
2333
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12369.p1
7.3
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 59; verbal IQ, 50
474588
520131
45544
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12379.p1
7.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
490081
520131
30051
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
572988
588860
15873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12764.p1
15.2
F
ASD
NA
Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
478060
520131
42072
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12781.p1
5.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 75
253492
340700
87209
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12785.p1
7.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
401714
425559
23846
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12792.p1
7.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 107
5444440
5705636
261197
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
3122657
3123919
1263
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13144.p1
6.5
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 119; verbal IQ, 95
1454970
1464569
9600
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
6676431
6687757
11327
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case28
9 mos.
F
Developmental delay
Developmental delay, hearing impairment, central hypotonia
2940907
3957894
1016988
GRCh38
Deletion
No
verberne_22_ASD/DD/ID_discovery_cases-case45
NA
F
Developmental delay
Developmental delay, hypotonia, clubfoot, facial dysmorphism
275924
2286202
2010279
GRCh38
Duplication
No
walker_13_ASD_discovery_cases-case8-3276-003
N/A
M
ASD
Family history: paternal aunt has two affected offspring
N/A
472980
532066
59087
GRCh38
Duplication
No
wang_18_TS_discovery_cases-case25227.p1
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 1 cohort; no additional clinical information available
1990666
2226544
235879
GRCh38
Deletion
Yes
wenger_16_22q11DS_discovery_cases-case6
N/A
N/A
22q11.2 deletion syndrome
N/A
N/A
65900
GRCh37
Duplication
No
woodbury-smith_14_ASD_discovery_cases-case17
N/A
M
ASD
Family history: broad autism phenotype (BAP)-defined father.
511292
522761
11470
GRCh38
Deletion
No
woodbury-smith_14_ASD_discovery_cases-case18
N/A
M
ASD
Family history: broad autism phenotype (BAP)-defined father.
3816540
3824659
8120
GRCh38
Deletion
No
woodward_19_ASD/DD/ID_discovery_cases-case1
12 yrs. 6 mos.
M
ASD, DD, and ID
Birth/neonatal history: born after uncomplicated pregnancy and delivered by non-elective caesarean section due to fetal distress; birth weight of 3,575 grams. Developmental milestones: severe global developmental delay; concerns about limited speech and interactions from about 20 months. Language and comunication evaluation: speech at 11 years of age included 7-8 word sentences with limited comprehension and echolalia. Behavioral/psychiatric evaluation: ASD, motor stereotypies (hand flapping). Dysmorphic features: tall forehead, posteriorly rotated prominent ears, slightly deep-set eyes, upslanting palpebral fissures, widow's peak, sparse eyebrows. Growth parameters: relative macrocephaly (head circumference 98th %ile); height 50th %ile, weight 90th-97th %ile. Family history: patient has similarly affected sibling and asymptomatic father (both of whom have the 22q11.2 duplication); patient also has a brother with bladder exstrophy who had not been tested by microarray; no family history of autistic features or intellectual disability (history of recurrent miscarriage).
Intellectual disability
1451256
1788248
336993
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case540
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
4073718
4196017
122300
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_controls-controlSSC09807
N/A
M
control
Control from SSC_phase2 cohort
6023610
6032071
8462
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036024958_
N/A
N/A
Control
No previous psychiatric history
5524710
5557938
33229
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB291465_1007854701
N/A
N/A
Control
No previous psychiatric history
472980
520131
47152
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB326599_1007854356
N/A
N/A
Control
No previous psychiatric history
2441108
2560425
119318
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB497980_1007852882
N/A
N/A
Control
No previous psychiatric history
473113
520131
47019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB553658_1007850198
N/A
N/A
Control
No previous psychiatric history
4521613
4822843
301231
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB666611_1007875265
N/A
N/A
Control
No previous psychiatric history
2902421
2969569
67149
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB752003_1007876006
N/A
N/A
Control
No previous psychiatric history
474588
520131
45544
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB970964_1007842336
N/A
N/A
Control
No previous psychiatric history
473113
513527
40415
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB980299_0067942608
N/A
N/A
Control
No previous psychiatric history
478060
513527
35468
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900223_900223
N/A
N/A
Control
No previous psychiatric history
473113
525739
52627
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900702_900702
N/A
N/A
Control
No previous psychiatric history
5725482
5759220
33739
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900947_900947
N/A
N/A
Control
No previous psychiatric history
2936445
2976116
39672
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
N/A
N/A
Control
No previous psychiatric history
3804703
3842329
37627
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902511_902511
N/A
N/A
Control
No previous psychiatric history
253492
372775
119284
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1273
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
3586471
3595522
9052
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1424
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
4875708
4910889
35182
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split189
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
3586471
3595522
9052
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split545
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
3590334
3592730
2397
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control11298.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11298. SRS score of 37.
2410257
2418138
7882
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control12161.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12161. SRS score of 44.
3805948
3834983
29036
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control12837.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12837. SRS score of 57.
3816673
3825407
8735
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11108.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11152.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6375701
6387561
11861
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11164.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
4024035
4037875
13841
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11208.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
2832302
2834852
2551
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11229.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6375701
6387559
11859
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11236.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3805948
3834983
29036
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11245.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3061159
3121179
60021
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11298.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
2410257
2418138
7882
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11310.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6375293
6392903
17611
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11718.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
1020771
1045231
24461
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11869.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
474620
507844
33225
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11895.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6375701
6387561
11861
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11982.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6375701
6387559
11859
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12076.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
571513
614018
42506
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12161.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3805948
3833778
27831
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12229.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
726137
804702
78566
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12295.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
617273
917746
300474
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12574.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6380280
6387561
7282
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12655.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6375293
6389637
14345
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12792.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
5455491
5707143
251653
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12837.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3816673
3825407
8735
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12930.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
841008
856164
15157
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13072.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13226.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13502.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6375701
6387559
11859
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13544.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3807171
3834983
27813
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13671.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6380280
6387561
7282
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13852.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
474620
507844
33225
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13854.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
1054569
1058747
4179
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13973.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6375293
6387559
12267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14039.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6857053
6897547
40495
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14063.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
1783027
1784946
1920
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14076.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
572634
598346
25713
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14151.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6422339
6430161
7823
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14491.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
2827616
2915648
88033
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11192.s1
NA
M
Control
NA
NA
3603221
3628441
25221
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11596.s1
NA
M
Control
NA
NA
4317604
4365579
47976
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12161.s1
NA
F
Control
NA
NA
3801306
3841000
39695
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12295.s1
NA
M
Control
NA
NA
608002
928090
320089
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C30093A
N/A
F
Control
NIMH Control (NIMH ID 85097)
1055905
1059087
3183
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C32509B
N/A
M
Control
NIMH Control (NIMH ID 73661)
746283
763592
17310
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C38268A
N/A
M
Control
NIMH Control (NIMH ID 16691)
1799947
1802645
2699
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11011.s1
5.9
M
Control (matched sibling)
NA
NA
5900236
5910084
9849
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11077.s1
14.8
M
Control (matched sibling)
NA
NA
474588
520131
45544
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11208.s1
11.4
F
Control (matched sibling)
NA
NA
2833433
2846784
13352
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11245.s1
14.1
M
Control (matched sibling)
NA
NA
3123115
3123637
523
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11298.s1
13.4
M
Control (matched sibling)
NA
NA
2409867
2418033
8167
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11300.s1
8
M
Control (matched sibling)
NA
NA
88728
110494
21767
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11357.s1
4.7
F
Control (matched sibling)
NA
NA
1256999
1291819
34821
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11455.s1
8.9
F
Control (matched sibling)
NA
NA
464612
518686
54075
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
472980
520131
47152
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11659.s1
4.8
F
Control (matched sibling)
NA
NA
4866439
4873936
7498
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11718.s1
23.6
F
Control (matched sibling)
NA
NA
1026478
1045174
18697
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11834.s1
8.3
M
Control (matched sibling)
NA
NA
478060
520131
42072
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
1901650
1910107
8458
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11869.s1
5.5
F
Control (matched sibling)
NA
NA
474588
520131
45544
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
1220005
1235072
15068
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12076.s1
6.2
M
Control (matched sibling)
NA
NA
572231
611373
39143
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12078.s1
5.8
F
Control (matched sibling)
NA
NA
5529577
5555770
26194
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12229.s1
7.8
F
Control (matched sibling)
NA
NA
723205
801381
78177
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12240.s1
6.7
F
Control (matched sibling)
NA
NA
478060
525739
47680
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12275.s1
8.4
M
Control (matched sibling)
NA
NA
5832198
5842246
10049
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12295.s1
20
M
Control (matched sibling)
NA
NA
610847
924775
313929
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-12369.s1
4.2
F
Control (matched sibling)
NA
NA
474588
520131
45544
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
6192807
6198522
5716
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12792.s1
5.8
F
Control (matched sibling)
NA
NA
5444440
5705636
261197
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12930.s1
14.8
M
Control (matched sibling)
NA
NA
839158
850574
11417
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
3122943
3123919
977
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13038.s1
5.8
M
Control (matched sibling)
NA
NA
1781880
1784945
3066
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13104.s1
8.1
F
Control (matched sibling)
NA
NA
1781880
1785186
3307
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13144.s1
4.9
M
Control (matched sibling)
NA
NA
1454970
1464569
9600
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
6192807
6198522
5716
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family55_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
352341
757037
404697
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family55_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
375855
746692
370838
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family71_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
3586473
3599986
13514
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
annunziata_21_ASD_discovery_cases-caseIB282
qPCR, FISH
Unknown
AMH,TIMM13,LSM7,SLC39A3,PLEKHJ1,ZNF77,SPPL2B,DOT1L,ZNF556,LMNB2,IZUMO4,ZNF554,MOB3A,JSRP1,ZNF57,DIRAS1,ZNF555,GNG7,PEAK3,TMPRSS9,LINGO3,GADD45B,OAZ1,ELOCP28,MIR1227,MIR4321,LINC01775,MIR7108,MIR6789,MIR7850,RN7SL121P,THOP1,SGTA,RNU6-993P,AP3D1,SF3A2
battaglia_13_DD/ID/ASD_discovery_cases-case43
FISH or qPCR
Maternal
Maternal
Possible multi-generational
Segregated
RPL32P34,SNRPEP4,ZNRF4,TINCR,SAFB2,SAFB,PTPRS
brandler_18_ASD_replication_cases-case1-0720-003
No validation step reported
Paternal
CATSPERD
brandler_18_ASD_replication_cases-case2-1194-003
No validation step reported
Paternal
PTBP1
brandler_18_ASD_replication_cases-case7-0135-003
No validation step reported
Paternal
LONP1,CATSPERD
brandler_18_ASD_replication_cases-caseAU3839303
No validation step reported
Paternal
RFX2
brandler_18_ASD_replication_cases-caseSSC09802
No validation step reported
Paternal
RFX2
celestino-soper_11_ASD_discovery_cases-11455
Unknown
Simplex
NA
NFIC
celestino-soper_11_ASD_discovery_cases-11461
Unknown
Simplex
NA
SLC25A41
chaves_19_ASD/DD/ID_discovery_cases-case188
Unknown
PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,SBNO2,CBARP,CIRBP,FAM174C,EFNA2,PWWP3A,NDUFS7,DAZAP1,RNF126,KISS1R,STK11,ABCA7
chaves_19_ASD/DD/ID_discovery_cases-case188
Unknown
MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,TLE5,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,MIR7-3,MIR4747,RPL32P34,SNRPEP4,MICOS13,DUS3L,NRTN,FUT5,VMAC,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,MIR7-3HG,FEM1A,TICAM1,ARRDC5,UHRF1,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,PRR22,FUT6,FUT3,CAPS,RANBP3,REXO1,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,PLIN3,KDM4B,SAFB,CATSPERD,NDUFA11,RFX2,IZUMO4,GNA15,ANKRD24,PTPRS
chaves_19_ASD/DD/ID_discovery_cases-case251
Unknown
PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,REEP6,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,SBNO2,CBARP,CIRBP,FAM174C,EFNA2,PWWP3A,NDUFS7,DAZAP1,APC2,C19orf25,ADAMTSL5,PLK5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,RNF126,KISS1R,STK11,REXO1,CSNK1G2,DOT1L,ABCA7,IZUMO4
cucinotta_23_ASD_discovery_cases-case164
Maternal
POLR2E,ABCA7,ARHGAP45
egle_16_DD/ID_discovery_cases-case1_1
FISH or RT-PCR
De novo
LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,KISS1R,STK11,ABCA7
engchuan_15_ASD_discovery_cases-case14310_4270
Unknown
ODF3L2,MADCAM1,TPGS1
engchuan_15_ASD_discovery_cases-case20069_1328001
Unknown
ODF3L2,MADCAM1,TPGS1
engchuan_15_ASD_discovery_cases-case20090_1392002
Unknown
CSNK1G2-AS1,SCAMP4,CSNK1G2
engchuan_15_ASD_discovery_cases-case3276_3
Unknown
ODF3L2,MADCAM1,TPGS1,CDC34
engchuan_15_ASD_discovery_cases-case4379_1
Unknown
BSG,HCN2
engchuan_15_ASD_discovery_cases-case4522_100
Unknown
MADCAM1,TPGS1
engchuan_15_ASD_discovery_cases-case6179_4
Unknown
ODF3L2,MADCAM1,TPGS1
girirajan_11_ASD_discovery_cases-Si43
Unknown
Simplex
PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,RNF126,KISS1R,STK11,ABCA7
girirajan_13a_ASD_discovery_cases-14458.p1
Unknown
Simplex
Unknown
ZNF556,ZNF77,AES,SMIM24,DOHH,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,TLE2,CELF5,NFIC,GNA15
girirajan_13a_ASD_discovery_cases-14491.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
ZNF556,ZNF554,ZNF555
girirajan_13b_ASD_discovery_cases-9505103679
Unknown
Unknown
Unknown
LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,KISS1R,STK11,ABCA7
han_22_ASD/DD/ID_discovery_cases-case15D1529
Unknown
DAZAP1,MBD3,PCSK4,REEP6,PLK5,C19orf25,GAMT,ADAMTSL5,NDUFS7,MEX3D,RPS15,RN7SL477P,TCF3,RNU6-1223P,APC2,UQCR11
iourov_12_ASD/ID/EP_discovery_cases-case18
Unknown
Unknown
Unknown
MIR1302-11,FAM138F,OR4G3P,OR4G1P,WBP1LP11,OR4F8P,SEPT14P19,CICP19,RNU6-1076P,PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,MIR7-3HG,MIR7-3,MIR4747,WASH5P,OR4F17,LINC01002,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,FEM1A,TICAM1,ARRDC5,UHRF1,RNF126,KISS1R,STK11,REXO1,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,PLIN3,ABCA7,IZUMO4,GNA15,ANKRD24
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001005
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,RNF126,KISS1R,STK11,REXO1,CSNK1G2,DOT1L,GNG7,ABCA7,IZUMO4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001095
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,RNF126
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001130
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR4746,PLIN5,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,UBXN6,DPP9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001820
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,GNA15
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001897
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,LINC01002,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,RNF126,KISS1R,STK11,REXO1,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,ABCA7,IZUMO4,GNA15,ANKRD24
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001963
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL32P34,SNRPEP4,DUS3L,NRTN,FUT5,VMAC,CLPP,PSPN,MIR6885,MIR6790,MIR3940,SLC25A41,CRB3,TUBB4A,UHRF1,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,PRR22,FUT6,FUT3,CAPS,RANBP3,MLLT1,ACER1,ALKBH7,GTF2F1,SLC25A23,DENND1C,KDM4B,SAFB,CATSPERD,NDUFA11,RFX2,ACSBG2,KHSRP,PTPRS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002053
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,RNF126,KISS1R,STK11,ABCA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002218
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,CELF5,NFIC,MFSD12,PIP5K1C,GNA15
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002404
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002479
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,REXO1,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,IZUMO4,GNA15
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002589
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,STK11,REXO1,CSNK1G2,ABCA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002736
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,REXO1,CSNK1G2,DOT1L,IZUMO4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003912
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,RNF126,KISS1R,ABCA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003924
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HMGB2P1,SBNO2,CBARP,STK11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004205
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HMGB2P1,SBNO2,STK11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005088
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,RNF126,KISS1R,STK11,REXO1,CSNK1G2,ABCA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005108
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,ANKRD24
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005121
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
EBI3,SHD,EIF1P6,MIR4746,PLIN5,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,ZBTB7A,STAP2,UBXN6,DPP9,ANKRD24
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005265
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,RNF126,KISS1R,STK11,ABCA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005314
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HMGB2P1,ATP5F1D,MIDN,CBARP,STK11
krumm_13_ASD_discovery_cases-case11298.p1
Paternal
Simplex
Not segregated
TMPRSS9
krumm_13_ASD_discovery_cases-case12161.p1
Confirmed by manual inspection
Paternal
Simplex
Not segregated
ZFR2
krumm_13_ASD_discovery_cases-case12358.p1
Paternal
Simplex
Segregated
ATP8B3
krumm_13_ASD_discovery_cases-case12837.p1
Paternal
Simplex
Not segregated
ZFR2
krumm_13_ASD_discovery_cases-case13296.p1
Maternal
Simplex
Segregated
C3
krumm_13_ASD_discovery_cases-case13815.p1
Paternal
Simplex
Segregated
ATP8B3
krumm_15_ASD_discovery_cases-case11108.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case11229.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case11298.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
TMPRSS9
krumm_15_ASD_discovery_cases-case11616.p1
Illumina 1MDuo
De novo
Simplex
Segregated
NMRK2
krumm_15_ASD_discovery_cases-case11681.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case11718.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CNN2,ABCA7
krumm_15_ASD_discovery_cases-case11845.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case11878.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case11895.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case11982.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case12028.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case12037.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case12044.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case12113.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case12161.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ZFR2
krumm_15_ASD_discovery_cases-case12229.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
LINC01836,PALM,MISP,PTBP1
krumm_15_ASD_discovery_cases-case12350.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case12358.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
ATP8B3
krumm_15_ASD_discovery_cases-case12361.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case12375.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CIRBP
krumm_15_ASD_discovery_cases-case12379.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case12379.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ODF3L2,MADCAM1
krumm_15_ASD_discovery_cases-case12515.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case12781.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PLPP2,MIER2
krumm_15_ASD_discovery_cases-case12792.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SNRPEP4,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,SAFB
krumm_15_ASD_discovery_cases-case12837.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ZFR2
krumm_15_ASD_discovery_cases-case12885.p1
1M-Duov3
Maternal
Simplex
Segregated
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case13076.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MIR1909,ATP8B3,REXO1
krumm_15_ASD_discovery_cases-case13226.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case13334.p1
1M-Duov3
Paternal
Simplex
Segregated
GNA11
krumm_15_ASD_discovery_cases-case13502.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case13544.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ZFR2
krumm_15_ASD_discovery_cases-case13703.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
STAP2
krumm_15_ASD_discovery_cases-case13744.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
THEG,MIER2
krumm_15_ASD_discovery_cases-case13775.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
ZNF554
krumm_15_ASD_discovery_cases-case13854.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ABCA7
krumm_15_ASD_discovery_cases-case13927.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
ZFR2
krumm_15_ASD_discovery_cases-case13973.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PSPN,GTF2F1
krumm_15_ASD_discovery_cases-case14039.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ADGRE1
krumm_15_ASD_discovery_cases-case14136.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
DUS3L,PRR22,CATSPERD
krumm_15_ASD_discovery_cases-case14183.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
TMPRSS9
krumm_15_ASD_discovery_cases-case14258.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
GTF2F1
krumm_15_ASD_discovery_cases-case14393.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
TMPRSS9
krumm_15_ASD_discovery_cases-case14491.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ZNF556,ZNF554,ZNF555
lee_17_ASD/DD/ID/MCA_discovery_cases-case26
Unknown
FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,KISS1R,STK11,ABCA7
lee_17_ASD/DD/ID/MCA_discovery_cases-case6
Unknown
GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3
levy_11_ASD_discovery_cases-11192.p1
Maternal
Simplex
Not segregated
CACTIN-AS1,TBXA2R,CACTIN
levy_11_ASD_discovery_cases-12161.p1
Paternal
Simplex
Not segregated
ZFR2,MATK
mahjani_22_OCD/CTD_discovery_cases-case31
Unknown
HCN2,AZU1,BSG,CIRBP,ATP5F1D,CDC34,CFD,ARID3A,ELANE,EFNA2,CNN2,DAZAP1,FGF22,RNF126,FAM174C,WDR18,PLPPR3,KISS1R,TPGS1,MIDN,TMEM259,R3HDM4,PWWP3A,MISP,C2CD4C,GRIN3B,CIRBP-AS1,C19orf25,GZMM,GPX4,GAMT,ODF3L2,CBARP,NDUFS7,PRSS57,RPS15P9,HMGB2P1,PALM,RPS2P52,MIR3187,MIR4745,RNA5SP462,PRTN3,POLR2E,POLRMT,PTBP1,RPS15,RNU6-9,RNU6-2,BSG-AS1,MADCAM1-AS1,STK11,LINC01836,MADCAM1,CBARP-DT,MED16,FSTL3,APC2,ABCA7,SBNO2,ARHGAP45,SHC2
maini_18_ASD/DD/ID_discovery_cases-case67
De novo
Simplex
Possibly segregated
MIR1302-11,FAM138F,OR4G3P,OR4G1P,WBP1LP11,OR4F8P,SEPT14P19,CICP19,RNU6-1076P,PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,WASH5P,OR4F17,LINC01002,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,RNF126
nava_13_ASD_discovery_cases-Fam1001Proband10753
Paternal
Simplex
Unknown
ZNF77
pfundt_16_nonNDD_discovery_cases-case121
Array SNP (Affymetrix CytoScan HD)
WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,KISS1R,STK11,ABCA7
pinto_10_ASD_discovery_cases-case6358_6
qPCR
De novo
Simplex
NA
PTPRS, TNFAIP8L1, ARRDC5, JMJD2B, M6PRBP1, DPP9, C19orf10, UHRF1, FEM1A
poultney_13_ASD_discovery_cases-case04HI2784A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ANKRD24
poultney_13_ASD_discovery_cases-case04HI2908A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ANKRD24
poultney_13_ASD_discovery_cases-case98HI0220A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AP3D1,DOT1L,IZUMO4
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZFR2
poultney_13_ASD_discovery_cases-case99HI0802A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TMPRSS9
prasad_12_ASD_discovery_cases-case100554L
Unknown
Unknown
Unknown
GNG7
prasad_12_ASD_discovery_cases-case100580L
Unknown
Unknown
Unknown
SCAMP4,ADAT3
prasad_12_ASD_discovery_cases-case126573
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case138820
Unknown
Unknown
Unknown
ZNF554,ZNF555
prasad_12_ASD_discovery_cases-case47560
Unknown
Unknown
Unknown
GNG7
prasad_12_ASD_discovery_cases-case47836
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59724-L
Unknown
Unknown
Unknown
ZNF556,ZNF555
prasad_12_ASD_discovery_cases-case68785
Unknown
Unknown
Unknown
DUS3L,TMEM146,PRR22
prasad_12_ASD_discovery_cases-case93185
Unknown
Unknown
Unknown
ARRDC5,PLIN3
prasad_12_ASD_discovery_cases-case93912
Unknown
Unknown
Unknown
TMPRSS9
quintela_17_DD/ID_discovery_cases-caseID_84
Unknown
Unknown
CLPP,PSPN,MIR6885,MIR6790,MIR3940,SLC25A41,CRB3,TUBB4A,TNFSF9,CLIC4P2,RPL7P50,MIR6791,MLLT1,ACER1,ALKBH7,GTF2F1,SLC25A23,DENND1C,CD70,TNFSF14,GPR108,TRIP10,SH2D3A,KHSRP,C3,VAV1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1586-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
FGF22,HCN2,POLRMT,RNF126
sajan_13_ACC/CBLH/PMG_discovery_cases-case1605-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
PCSK4,PLK5,C19orf25,REEP6,ADAMTSL5
sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
qPCR (CNV not detected)
Bi-parental
Unknown
Unknown
FGF22,HCN2,POLRMT,RNF126
sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
FGF22,BSG,HCN2,POLRMT,RNF126
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-207
Not tested by qPCR
Unknown
Unknown
Unknown
MKNK2,MOB3A
sanders_11_ASD_discovery_cases-11001.p1
Paternal
Simplex (trio)
NA
CNN2
sanders_11_ASD_discovery_cases-11011.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VMAC,NDUFA11
sanders_11_ASD_discovery_cases-11077.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ODF3L2,MADCAM1,TPGS1
sanders_11_ASD_discovery_cases-11249.p1
Both parents
Simplex (trio)
NA
BSG
sanders_11_ASD_discovery_cases-11298.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMPRSS9
sanders_11_ASD_discovery_cases-11334.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF556,THOP1,ZNF554,ZNF555
sanders_11_ASD_discovery_cases-11382.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP8B3
sanders_11_ASD_discovery_cases-11407.p1
Both parents
Simplex (quad-proband matched)
Segregated
BSG
sanders_11_ASD_discovery_cases-11439.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ZNRF4
sanders_11_ASD_discovery_cases-11439.p1
Both parents
Simplex (quad-proband matched)
Segregated
NCLN
sanders_11_ASD_discovery_cases-11455.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ODF3L2,MADCAM1,TPGS1
sanders_11_ASD_discovery_cases-11476.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF554,ZNF555
sanders_11_ASD_discovery_cases-11506.p1
Paternal
Simplex (trio)
NA
BSG
sanders_11_ASD_discovery_cases-11564.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RFX2,ACSBG2
sanders_11_ASD_discovery_cases-11622.p1
Both parents
Simplex (quad-proband matched)
Not segregated
BSG
sanders_11_ASD_discovery_cases-11664.p1
Both parents
Simplex (trio)
NA
BSG
sanders_11_ASD_discovery_cases-11710.p1
Unknown
Simplex (trio)
NA
RFX2,ACSBG2
sanders_11_ASD_discovery_cases-11718.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CNN2,ABCA7
sanders_11_ASD_discovery_cases-11928.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CBARP,STK11
sanders_11_ASD_discovery_cases-11948.p1
Both parents
Simplex (quad-proband matched)
Not segregated
NCLN
sanders_11_ASD_discovery_cases-11948.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ATP5F1D,CBARP,STK11
sanders_11_ASD_discovery_cases-12032.p1
Both parents
Simplex (quad-proband matched)
Not segregated
BSG
sanders_11_ASD_discovery_cases-12070.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
BSG
sanders_11_ASD_discovery_cases-12078.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12091.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BSG
sanders_11_ASD_discovery_cases-12103.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
ATP8B3
sanders_11_ASD_discovery_cases-12229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01836,PALM,MISP,PTBP1
sanders_11_ASD_discovery_cases-12358.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP8B3
sanders_11_ASD_discovery_cases-12369.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ODF3L2,MADCAM1,TPGS1
sanders_11_ASD_discovery_cases-12379.p1
Maternal
Simplex (trio)
NA
MADCAM1,TPGS1
sanders_11_ASD_discovery_cases-12710.p1
Unknown
Simplex (trio)
NA
BSG
sanders_11_ASD_discovery_cases-12764.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MADCAM1,TPGS1
sanders_11_ASD_discovery_cases-12781.p1
Paternal
Simplex (trio)
NA
PLPP2,MIER2
sanders_11_ASD_discovery_cases-12785.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C2CD4C,SHC2
sanders_11_ASD_discovery_cases-12792.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SNRPEP4,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,SAFB
sanders_11_ASD_discovery_cases-12972.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GNA11
sanders_11_ASD_discovery_cases-13144.p1
Maternal
Simplex (quad-proband matched)
Not segregated
APC2,C19orf25
sanders_11_ASD_discovery_cases-13296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C3
shin_15_ASD/DD/ID_discovery_cases-case28
Unknown
Unknown
ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,GNA15
verberne_22_ASD/DD/ID_discovery_cases-case45
De novo
HCN2,AMH,AZU1,BSG,CIRBP,ATP5F1D,CDC34,CFD,ARID3A,CSNK1G2,ELANE,EFNA2,CNN2,DAZAP1,FGF22,THEG,MBD3,PCSK4,PLEKHJ1,BTBD2,MIER2,RNF126,FAM174C,REXO1,WDR18,PLPPR3,DOT1L,KLF16,ABHD17A,SCAMP4,REEP6,KISS1R,IZUMO4,TPGS1,MIDN,TMEM259,R3HDM4,ADAT3,PWWP3A,MOB3A,MISP,C2CD4C,PLK5,JSRP1,GRIN3B,CIRBP-AS1,C19orf25,ATP8B3,GZMM,GPX4,MKNK2,GAMT,ODF3L2,CBARP,CSNK1G2-AS1,ADAMTSL5,NDUFS7,PEAK3,MEX3D,PRSS57,ONECUT3,RPS15P9,HMGB2P1,OAZ1,PALM,RPS2P52,MIR1227,MIR1909,MIR3187,MIR4321,MIR4745,RNA5SP462,PRTN3,POLR2E,POLRMT,PTBP1,RPS15,MIR6789,RNU6-9,RNU6-2,BSG-AS1,MADCAM1-AS1,RN7SL477P,STK11,TCF3,RNU6-1223P,LINC01836,SF3A2,AP3D1,PLPP2,MADCAM1,CBARP-DT,MED16,FSTL3,APC2,UQCR11,ABCA7,SBNO2,ARHGAP45,SHC2
walker_13_ASD_discovery_cases-case8-3276-003
Unknown
Simplex
Unknown
ODF3L2,MADCAM1,TPGS1,CDC34
wang_18_TS_discovery_cases-case25227.p1
qPCR
De novo
BTBD2,MKNK2,MOB3A,AP3D1,DOT1L,IZUMO4
wenger_16_22q11DS_discovery_cases-case6
Unknown
MKNK2
woodbury-smith_14_ASD_discovery_cases-case17
Paternal
Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
Unknown
TPGS1
woodbury-smith_14_ASD_discovery_cases-case18
Paternal
Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
Unknown
ZFR2
woodward_19_ASD/DD/ID_discovery_cases-case1
De novo
Multiplex
Not segregated
PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3
yin_16_ASD_discovery_cases-case540
Unknown
Unknown
Unknown
MAP2K2,CREB3L3,SIRT6,ANKRD24
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC09807
No validation step reported
Paternal
RFX2
engchuan_15_ASD_discovery_controls-control110036024958_
Unknown
engchuan_15_ASD_discovery_controls-controlB291465_1007854701
Unknown
ODF3L2,MADCAM1,TPGS1
engchuan_15_ASD_discovery_controls-controlB326599_1007854356
Unknown
LINC01775,GADD45B,RNU6-993P,ELOCP28,LMNB2,GNG7
engchuan_15_ASD_discovery_controls-controlB497980_1007852882
Unknown
ODF3L2,MADCAM1,TPGS1
engchuan_15_ASD_discovery_controls-controlB553658_1007850198
Unknown
PLIN5,MIR7-3HG,MIR7-3,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,FEM1A,TICAM1,DPP9
engchuan_15_ASD_discovery_controls-controlB666611_1007875265
Unknown
ZNF77,ZNF57
engchuan_15_ASD_discovery_controls-controlB752003_1007876006
Unknown
ODF3L2,MADCAM1,TPGS1
engchuan_15_ASD_discovery_controls-controlB970964_1007842336
Unknown
ODF3L2,MADCAM1,TPGS1
engchuan_15_ASD_discovery_controls-controlB980299_0067942608
Unknown
MADCAM1,TPGS1
engchuan_15_ASD_discovery_controls-controlHABC_900223_900223
Unknown
ODF3L2,MADCAM1,TPGS1
engchuan_15_ASD_discovery_controls-controlHABC_900702_900702
Unknown
CATSPERD
engchuan_15_ASD_discovery_controls-controlHABC_900947_900947
Unknown
ZNF77
engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
Unknown
ZFR2
engchuan_15_ASD_discovery_controls-controlHABC_902511_902511
Unknown
PLPP2,THEG,MIER2
kanduri_15_ASD_discovery_controls-control_split1273
Unknown
GIPC3,TBXA2R
kanduri_15_ASD_discovery_controls-control_split1424
Unknown
ARRDC5,UHRF1
kanduri_15_ASD_discovery_controls-control_split189
Unknown
GIPC3,TBXA2R
kanduri_15_ASD_discovery_controls-control_split545
Unknown
GIPC3 (3'UTR)
krumm_13_ASD_discovery_controls-control11298.s1
Paternal
Simplex
TMPRSS9
krumm_13_ASD_discovery_controls-control12161.s1
Confirmed by manual inspection
Paternal
Simplex
ZFR2
krumm_13_ASD_discovery_controls-control12837.s1
aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
ZFR2
krumm_15_ASD_discovery_controls-control11108.s1
Illumina 1M
Paternal
PSPN,GTF2F1
krumm_15_ASD_discovery_controls-control11152.s1
Illumina 1M
Maternal
PSPN,GTF2F1
krumm_15_ASD_discovery_controls-control11164.s1
Illumina 1M
Paternal
PIAS4
krumm_15_ASD_discovery_controls-control11208.s1
Illumina 1M
Maternal
ZNF554
krumm_15_ASD_discovery_controls-control11229.s1
Illumina 1M
Paternal
PSPN,GTF2F1
krumm_15_ASD_discovery_controls-control11236.s1
Illumina 1MDuo
Maternal
ZFR2
krumm_15_ASD_discovery_controls-control11245.s1
Illumina 1M
Paternal
AES,GNA11
krumm_15_ASD_discovery_controls-control11298.s1
Illumina 1M
Paternal
TMPRSS9
krumm_15_ASD_discovery_controls-control11310.s1
Illumina 1M
Paternal
PSPN,MIR6885,GTF2F1
krumm_15_ASD_discovery_controls-control11718.s1
Illumina 1MDuo
Maternal
RNU6-2,TMEM259,CNN2,ABCA7
krumm_15_ASD_discovery_controls-control11869.s1
Illumina 1MDuo
Maternal
ODF3L2,MADCAM1,TPGS1
krumm_15_ASD_discovery_controls-control11895.s1
Illumina 1MDuo
Maternal
PSPN,GTF2F1
krumm_15_ASD_discovery_controls-control11982.s1
Illumina 1MDuo
Maternal
PSPN,GTF2F1
krumm_15_ASD_discovery_controls-control12076.s1
Illumina 1MDuo
Maternal
BSG,HCN2
krumm_15_ASD_discovery_controls-control12161.s1
Illumina 1MDuo
Paternal
ZFR2
krumm_15_ASD_discovery_controls-control12229.s1
Illumina 1MDuo
Maternal
LINC01836,PALM,MISP,PTBP1
krumm_15_ASD_discovery_controls-control12295.s1
Illumina 1MDuo
De novo
FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,RNF126,KISS1R
krumm_15_ASD_discovery_controls-control12574.s1
Illumina 1MDuo
Paternal
GTF2F1
krumm_15_ASD_discovery_controls-control12655.s1
Illumina 1MDuo
Paternal
PSPN,GTF2F1
krumm_15_ASD_discovery_controls-control12792.s1
Illumina 1MDuo
Maternal
SNRPEP4,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,SAFB
krumm_15_ASD_discovery_controls-control12837.s1
Illumina 1MDuo
Paternal
ZFR2
krumm_15_ASD_discovery_controls-control12930.s1
Illumina 1MDuo
Paternal
PRTN3,ELANE
krumm_15_ASD_discovery_controls-control13072.s1
Illumina 1MDuo
Paternal
PSPN,GTF2F1
krumm_15_ASD_discovery_controls-control13226.s1
Illumina 1MDuo
Maternal
PSPN,GTF2F1
krumm_15_ASD_discovery_controls-control13502.s1
1M-Duov3
Maternal
PSPN,GTF2F1
krumm_15_ASD_discovery_controls-control13544.s1
1M-Duov3
Paternal
ZFR2
krumm_15_ASD_discovery_controls-control13671.s1
Omni2.5-4v1
Maternal
GTF2F1
krumm_15_ASD_discovery_controls-control13852.s1
Omni2.5-4v1
Maternal
ODF3L2,MADCAM1,TPGS1
krumm_15_ASD_discovery_controls-control13854.s1
Omni2.5-4v1
Paternal
ABCA7
krumm_15_ASD_discovery_controls-control13973.s1
Omni2.5-4v1
Maternal
PSPN,GTF2F1
krumm_15_ASD_discovery_controls-control14039.s1
Omni2.5-4v1
Paternal
ADGRE1,VAV1
krumm_15_ASD_discovery_controls-control14063.s1
Omni2.5-4v1
Paternal
ATP8B3
krumm_15_ASD_discovery_controls-control14076.s1
Omni2.5-4v1
Maternal
BSG,HCN2
krumm_15_ASD_discovery_controls-control14151.s1
Omni2.5-4v1
Maternal
SLC25A41,KHSRP
krumm_15_ASD_discovery_controls-control14491.s1
Omni2.5-4v1
Paternal
ZNF556,ZNF554,ZNF555,ZNF57
levy_11_ASD_discovery_controls-11192.s1
Maternal
Simplex
NA
CACTIN-AS1,TBXA2R,CACTIN
levy_11_ASD_discovery_controls-11596.s1
Paternal
Simplex
NA
EIF1P6,FSD1,MPND,SH3GL1,STAP2
levy_11_ASD_discovery_controls-12161.s1
Paternal
Simplex
NA
ZFR2,MATK
levy_11_ASD_discovery_controls-12295.s1
aCGH (Agilent 244K)
De novo
Simplex
NA
FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,RNF126,KISS1R
poultney_13_ASD_discovery_controls-control04C30093A
Unknown
ABCA7
poultney_13_ASD_discovery_controls-control04C32509B
Unknown
PALM,MISP
poultney_13_ASD_discovery_controls-control04C38268A
qPCR, Sanger sequencing
Unknown
ATP8B3
sanders_11_ASD_discovery_controls-11011.s1
Maternal
Simplex (quad)
NA
VMAC,NDUFA11
sanders_11_ASD_discovery_controls-11077.s1
Paternal
Simplex (quad)
NA
ODF3L2,MADCAM1,TPGS1
sanders_11_ASD_discovery_controls-11208.s1
Maternal
Simplex (quad)
NA
ZNF554,ZNF555
sanders_11_ASD_discovery_controls-11245.s1
Paternal
Simplex (quad)
NA
GNA11
sanders_11_ASD_discovery_controls-11298.s1
Paternal
Simplex (quad)
NA
TMPRSS9
sanders_11_ASD_discovery_controls-11300.s1
Unknown
Simplex (quad)
NA
OR4G3P,OR4G1P,OR4F17
sanders_11_ASD_discovery_controls-11357.s1
Unknown
Simplex (quad)
NA
MIDN,CIRBP-AS1,CIRBP,C19orf24,EFNA2
sanders_11_ASD_discovery_controls-11455.s1
Paternal
Simplex (quad)
NA
ODF3L2,MADCAM1,TPGS1
sanders_11_ASD_discovery_controls-11578.s1
Maternal
Simplex (quad)
NA
ODF3L2,MADCAM1,TPGS1
sanders_11_ASD_discovery_controls-11659.s1
Maternal
Simplex (quad)
NA
PLIN3
sanders_11_ASD_discovery_controls-11718.s1
Maternal
Simplex (quad)
NA
CNN2,ABCA7
sanders_11_ASD_discovery_controls-11834.s1
Maternal
Simplex (quad)
NA
MADCAM1,TPGS1
sanders_11_ASD_discovery_controls-11860.s1
Maternal
Simplex (quad)
NA
ADAT3,SCAMP4
sanders_11_ASD_discovery_controls-11869.s1
Maternal
Simplex (quad)
NA
ODF3L2,MADCAM1,TPGS1
sanders_11_ASD_discovery_controls-11986.s1
Paternal
Simplex (quad)
NA
CBARP,STK11
sanders_11_ASD_discovery_controls-12076.s1
Maternal
Simplex (quad)
NA
BSG,HCN2
sanders_11_ASD_discovery_controls-12078.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12229.s1
Maternal
Simplex (quad)
NA
LINC01836,PALM,MISP,PTBP1
sanders_11_ASD_discovery_controls-12240.s1
Paternal
Simplex (quad)
NA
MADCAM1,TPGS1
sanders_11_ASD_discovery_controls-12275.s1
Maternal
Simplex (quad)
NA
FUT6
sanders_11_ASD_discovery_controls-12295.s1
qPCR
De Novo
Simplex (quad)
NA
FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,RNF126,KISS1R
sanders_11_ASD_discovery_controls-12369.s1
Paternal
Simplex (quad)
NA
ODF3L2,MADCAM1,TPGS1
sanders_11_ASD_discovery_controls-12638.s1
Unknown
Simplex (quad)
NA
RFX2,ACSBG2
sanders_11_ASD_discovery_controls-12792.s1
Maternal
Simplex (quad)
NA
SNRPEP4,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,SAFB
sanders_11_ASD_discovery_controls-12930.s1
Paternal
Simplex (quad)
NA
PRTN3
sanders_11_ASD_discovery_controls-12972.s1
Paternal
Simplex (quad)
NA
GNA11
sanders_11_ASD_discovery_controls-13038.s1
Paternal
Simplex (quad)
NA
ATP8B3
sanders_11_ASD_discovery_controls-13104.s1
Maternal
Simplex (quad)
NA
ATP8B3
sanders_11_ASD_discovery_controls-13144.s1
Maternal
Simplex (quad)
NA
APC2,C19orf25
sanders_11_ASD_discovery_controls-13296.s1
Unknown
Simplex (quad)
NA
RFX2,ACSBG2
stamouli_18_ASD/NDD_discovery_controls-family55_Twin_1
Unknown
N/A (both twins typically developing)
THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,RNF126
stamouli_18_ASD/NDD_discovery_controls-family55_Twin_2
Unknown
N/A (both twins typically developing)
THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,RNF126
stamouli_18_ASD/NDD_discovery_controls-family71_Twin_1
Unknown
Simplex
GIPC3,TBXA2R
No Animal Model Data Available