1p31.1CNV Type: Deletion-Duplication
Largest CNV size: 423711 bp
Statistics Box:
Number of Reports: 31
Number of Reports: 31
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
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
10873
1
0
1
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
242119
1
0
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
24884
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
483000
1
1
2
du_21_ASD/DD/ID/EP_discovery_cases
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
511
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Range, 3 mos.-35 yrs. (median age, 3 yrs.)
73.6% Male
382813
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
572732
21
2
23
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
394389
1
0
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
2666268
1
1
2
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
149280
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
804824
2
1
3
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
172114
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
207504
2
1
3
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
69253
1
0
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
55036
1
N/A
2
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
1600000
1
2
3
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
50656
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
43000
2
0
2
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
34212
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
279094
2
0
2
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)
8465
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
60024
4
3
7
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
360789
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
65599
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
423711
30
11
41
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
219000
1
0
1
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
18656
0
1
1
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
45908
0
1
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
438000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
stamouli_18_ASD/NDD_discovery_cases
Affected 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
Diagnoses based on DSM-5 criteria 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 an
N/A
N/A
129517
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
55036
2
0
2
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
672000
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
287291
0
2
2
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
10873
1
0
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
1076019
21
8
29
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
2666268
NA
NA
NA
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
NA
NA
NA
NA
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
21488
1
0
1
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
305150
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
69253
1
0
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
23099
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
103325
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
60024
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.
328929
28
3
31
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
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
129517
1
0
1
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
287291
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
du_21_ASD/DD/ID/EP_discovery_cases
United States
Solid phase hybridization
Illumina CytoSNP-850Kv1.2 BeadChip
NA
Illumina Genome Studio V2009.2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
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
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
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
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
brandler_18_ASD_replication_cases-caseSSC09967
N/A
F
ASD
Case from SSC_phase2 cohort
77743643
77754515
10873
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case360
N/A
F
Intellectual disability
Convulsions, learning difficulties, mild intellectual disability and hearing loss
Mild intellectual disability and learning difficulties
71791983
72034101
242119
GRCh38
Deletion
No
costa_21_ASD_discovery_cases-caseP86
NA
M
ASD and developmental delay
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: hypotonia, constipation, developmental delay.
70949644
70974527
24884
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296482
N/A
F
Developmental delay/intellectual disability
73252698
73334990
82293
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300137
N/A
F
Intellectual disability
Intellectual disability
74489176
74972528
483353
GRCh38
Duplication
Yes
du_21_ASD/DD/ID_discovery_cases-case277
3 yrs.
M
ASD, developmental delay, and seizures
Global developmental delay, seizures, bilateral postaxial polydactyly, self-injurious behavior, autism
71521812
71904624
382813
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14179_2900
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72155780
72191375
35596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14215_3460
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14242_3660
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73508705
73565871
57167
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14387_4960
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82458007
82823316
365310
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18094_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83101818
83222555
120738
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20026_1123001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20153_1639001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73464810
73560431
95622
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2206_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3072_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3376_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3473_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80535587
81108319
572733
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3484_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3541_2
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78221472
78369213
147742
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4285_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79075586
79149304
73719
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4339_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4432_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5269_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5372_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5446_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
77708295
77743520
35226
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5451_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84142291
84221922
79632
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6180_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
75270682
75549775
279094
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6350_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73432126
73476655
44530
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8626_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72549905
72624925
75021
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case647-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
79106954
79501343
394390
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case24222
6 yrs.
M
Developmental delay
Severe speech delay. Behavioral problems: ADHD, oppositional defiant disorder (ODD), autistic features. Hypotonia. Dysmorphic features: midface hypoplasia, wide central incisors. Congenital anomalies: cleft palate, velopharyngeal insufficiency , sacral dimple, triphalangeal thumbs, right aortic arch, hypospadias, umbilical hernia, small testes. Growth parameters: failure to thrive, microcephaly. Family history: mother with learning disability; maternal half sibling has congenital heart defect and contractures.
Global developmental delay
76873340
79539608
2666269
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case29221
2 yrs. 1 mo.
F
Developmental delay
Global developmental delay. Hypotonia, Normal MRI. Dysmorphic features: almond-shaped palpebral fissures, mild micrognathia, bitemporal narrowing. Other features: required G-tube. Growth parameters: weight 58th %ile, height 18th %ile, OFC -0.7 SD. Family history: mother had trachoesophageal fistula and duodenal atresia; father had undescended testicle.
Global developmental delay
79591393
80539468
948076
GRCh38
Duplication
Yes
handrigan_13_ASD/DD/ID_discovery_cases-patient21
8 mos.
M
Other
Neurodevelopmental abnormalities: none reported. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
81651328
81800608
149281
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004615
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
71259258
71498818
239561
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004707
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
69920772
70178934
258163
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004891
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
81436935
82241760
804826
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12906.p1
N/A
M
ASD
ASD proband from SSC quad family 12906. SRS score of 90.
Full-scale IQ (FSIQ) score of 61.
74198278
74370392
172115
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case12600.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
75724787
75932291
207505
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13066.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
76627451
76628806
1356
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13395.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
70415955
70424416
8462
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11231.p1
NA
M
ASD
NA
NA
74477696
74546948
69253
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
72303233
72345465
42233
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
72290430
72345465
55036
GRCh38
complex
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown87
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
82822729
84424729
1602001
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown88
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
70042444
70424404
381961
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown89
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
74436448
74625748
189301
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case121803
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
79392402
79443057
50656
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam333Proband139
5 yrs.
M
ASD
Developmental milestones: age of walking of 13 mnths. Language and communication evaluation: few words. Epilepsy/seizures: none. Neurological examination: normal. Dysmorphic features: strabism. Growth parameters: height +2.5 SD, weight +2 SD, head circumference +2 SD.
ID (moderate)
70949180
70992479
43300
GRCh38
Homozygous deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
N/A
M
ASD and intellectual disability
Case met criteria for ASD diagnosis, exceeding ADOS and ADI thresholds in all areas. Developmental milestones: motor delay; language delay. Behavioral/psychiatric evaluation: depressed mood. Brain imaging: cerebral venous malformation detected on brain MRI. Family history: brother of maternal grandfather affected by intellectual disability; maternal grandmother affected by thyroid cancer.
Moderate cognitive impairment (TIQ score of 41)
72295585
72329797
34213
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5446_3
NA
M
ASD
NA
NA
77708295
77743520
35226
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case6180_4
NA
M
Autism
Non verbal, normal physical exam, no epilepsy
Severe MR
75270682
75549775
279094
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1326A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU043903; NDAR ID NDAR_INVXE173GEE)
70415954
70424418
8465
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case100678L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
73535216
73588764
53549
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case168999
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
75874904
75934927
60024
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47607
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
75665267
75697124
31858
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case57928
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
80140654
80175444
34791
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60980L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
71207324
71223386
16063
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case76018L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
74927479
74959602
32124
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case83536
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
77946447
77985542
39096
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_617
10 yrs.
F
Intellectual disability
Additional clinical information N/A
Intellectual disability
82818762
83179550
360789
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
Developmental delay: yes. Intellectual disability: N/A.
84147137
84212735
65599
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
77308728
77315882
7155
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11088.p1
5.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
80764328
80871137
106810
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11090.p1
11.7
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
75879955
75886294
6340
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11091.p1
8.1
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 111; verbal IQ, 136
72529715
72636327
106613
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11101.p1
5.2
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 57; verbal IQ, 38
72155780
72191375
35596
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11144.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
75886042
75886294
253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11146.p1
10.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 80
79745262
80069803
324542
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11233.p1
6.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
81707363
81710297
2935
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
70881734
70887421
5688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11304.p1
5.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 61; verbal IQ, 47
75879020
75917880
38861
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11437.p1
16.6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
84058982
84179583
120602
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
76704332
76724665
20334
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
70949180
70999609
50430
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11541.p1
10.3
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
75879020
75920620
41601
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11780.p1
4.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
75886042
75888395
2354
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11824.p1
8.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
70839395
70845472
6078
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11975.p1
6.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 59; verbal IQ, 75
75886042
75886294
253
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
70949180
70999609
50430
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
78389673
78422796
33124
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
75886042
75886294
253
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12150.p1
8.7
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
75886042
75886294
253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
77308728
77315882
7155
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
75886042
75886294
253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12228.p1
6.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
79742603
80071113
328511
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12239.p1
9.1
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
81445685
81454591
8907
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
84085166
84094327
9162
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
75886042
75886294
253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12339.p1
15.5
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
73253740
73395461
141722
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12351.p1
13.6
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 68; verbal IQ, 37
78598173
78626837
28665
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12378.p1
6.2
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 84; verbal IQ, 81
82192855
82351556
158702
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
77308728
77315882
7155
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12536.p1
5.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
82192855
82345152
152298
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12552.p1
8.7
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 98
72549905
72624925
75021
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12574.p1
13
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 91; verbal IQ, 111
76857439
76991631
134193
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12600.p1
7.9
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
75730917
76154628
423712
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12600.p1
7.9
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
73611024
73692909
81886
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
80810493
80814625
4133
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12681.p1
6.5
F
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 65; verbal IQ, 69
75789041
75797164
8124
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12916.p1
7.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 78; verbal IQ, 97
73868025
73891679
23655
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13035.p1
4.8
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
75886042
75888395
2354
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
76704332
76724665
20334
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case20
3 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
78856379
79075734
219356
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
72300672
72319327
18656
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
72295333
72341240
45908
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseBAK39
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
74676321
75114506
438186
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family67_Twin_1
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
71167004
71296520
129517
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
72290430
72345465
55036
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
72300672
72341240
40569
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case37
N/A
F
Phelan-McDermid syndrome
Profound speech delay, motor developmental delay, repetitive behaviors, significant self-injurious behaviors, aggression
Severe intellectual disability
75492777
76164320
671544
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case22
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
70671453
70958743
287291
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case23
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
81669257
81746068
76812
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-controlSSC09975
N/A
M
control
Control from SSC_phase2 cohort
77743643
77754515
10873
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036015386_
N/A
N/A
Control
No previous psychiatric history
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB247954_1007854082
N/A
N/A
Control
No previous psychiatric history
70220006
70330595
110590
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB268227_1007841416
N/A
N/A
Control
No previous psychiatric history
83044808
83144599
99792
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB324430_1007841789
N/A
N/A
Control
No previous psychiatric history
78881445
78954806
73362
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB407753_1007874851
N/A
N/A
Control
No previous psychiatric history
77664558
77809936
145379
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB628278_1007846477
N/A
N/A
Control
No previous psychiatric history
79494400
79642626
148227
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB671653_1007853865
N/A
N/A
Control
No previous psychiatric history
78157942
78678634
520693
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB761543_1007854154
N/A
N/A
Control
No previous psychiatric history
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB839667_1007852937
N/A
N/A
Control
No previous psychiatric history
79485604
79593644
108041
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
N/A
N/A
Control
No previous psychiatric history
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900129_900129
N/A
N/A
Control
No previous psychiatric history
72731398
72799152
67755
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900174_900174
N/A
N/A
Control
No previous psychiatric history
72877705
73953724
1076020
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900181_900181
N/A
N/A
Control
No previous psychiatric history
79745262
80071004
325743
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900182_900182
N/A
N/A
Control
No previous psychiatric history
82023878
82112620
88743
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900254_900254
N/A
N/A
Control
No previous psychiatric history
82483960
82622093
138134
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900263_900263
N/A
N/A
Control
No previous psychiatric history
71426737
71513090
86354
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900282_900282
N/A
N/A
Control
No previous psychiatric history
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900366_900366
N/A
N/A
Control
No previous psychiatric history
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900370_900370
N/A
N/A
Control
No previous psychiatric history
74915495
74967967
52473
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901109_901109
N/A
N/A
Control
No previous psychiatric history
74441318
74527140
85823
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901130_901130
N/A
N/A
Control
No previous psychiatric history
70967301
70997807
30507
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901151_901151
N/A
N/A
Control
No previous psychiatric history
82548691
82592472
43782
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901159_901159
N/A
N/A
Control
No previous psychiatric history
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902615_902615
N/A
N/A
Control
No previous psychiatric history
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902622_902622
N/A
N/A
Control
No previous psychiatric history
74074465
74482502
408038
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902630_902630
N/A
N/A
Control
No previous psychiatric history
72549905
72624925
75021
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902745_902745
N/A
N/A
Control
No previous psychiatric history
72549905
72629465
79561
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902758_902758
N/A
N/A
Control
No previous psychiatric history
75368769
75412028
43260
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902854_902854
N/A
N/A
Control
No previous psychiatric history
72549905
72624925
75021
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control13058.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
70952906
70974394
21489
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_controls-siblingPN400517
N/A
F
Control
Unaffected sibling of an ASD case
69568481
69873630
305150
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11231.s1
NA
F
Control
NA
NA
74477696
74546948
69253
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27162
Control
76940931
76964029
23099
Unknown
Duplication
poultney_13_ASD_discovery_controls-control04C32515B
N/A
M
Control
NIMH Control (NIMH ID 79540)
70221635
70324959
103325
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11027.s1
5.8
M
Control (matched sibling)
NA
NA
83193584
83312683
119100
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
81149141
81159096
9956
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
77308728
77315882
7155
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11055.s1
11.3
F
Control (matched sibling)
NA
NA
72638051
72650808
12758
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11091.s1
5.5
F
Control (matched sibling)
NA
NA
72549905
72636080
86176
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11144.s1
14
F
Control (matched sibling)
NA
NA
72549905
72629706
79802
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11146.s1
9.7
M
Control (matched sibling)
NA
NA
79745262
80069803
324542
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11196.s1
10
M
Control (matched sibling)
NA
NA
73424707
73554013
129307
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11291.s1
13.6
F
Control (matched sibling)
NA
NA
75879020
75886294
7275
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11330.s1
11.8
F
Control (matched sibling)
NA
NA
75886042
75886294
253
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
80068759
80091130
22372
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
84385518
84392055
6538
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11393.s1
9.1
M
Control (matched sibling)
NA
NA
75886042
75888395
2354
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11476.s1
10.8
F
Control (matched sibling)
NA
NA
79297221
79314369
17149
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11480.s1
13.8
F
Control (matched sibling)
NA
NA
83341979
83359203
17225
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
80864080
80890199
26120
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11620.s1
15.1
F
Control (matched sibling)
NA
NA
72549905
72624925
75021
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11707.s1
15.1
F
Control (matched sibling)
NA
NA
75886042
75886294
253
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
72549905
72629706
79802
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11984.s1
7.7
F
Control (matched sibling)
NA
NA
75879955
75886294
6340
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
79745262
79755294
10033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
77309381
77315882
6502
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12228.s1
8.8
F
Control (matched sibling)
NA
NA
79742603
80071532
328930
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12339.s1
12.9
F
Control (matched sibling)
NA
NA
73253740
73395461
141722
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12378.s1
4.4
M
Control (matched sibling)
NA
NA
82192855
82346622
153768
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
77308728
77315882
7155
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12497.s1
10.8
F
Control (matched sibling)
NA
NA
77308728
77315882
7155
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12552.s1
4.2
M
Control (matched sibling)
NA
NA
72549905
72624925
75021
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12610.s1
8.8
F
Control (matched sibling)
NA
NA
77308728
77315882
7155
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12758.s1
9.6
F
Control (matched sibling)
NA
NA
72155780
72192531
36752
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12925.s1
14.8
F
Control (matched sibling)
NA
NA
72146032
72191375
45344
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family67_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
71167004
71296520
129517
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseSSC09967
No validation step reported
Paternal
USP33
chaves_19_ASD/DD/ID_discovery_cases-case360
Unknown
NEGR1,NEGR1-IT1
costa_21_ASD_discovery_cases-caseP86
Paternal
PTGER3
digregorio_17_DD/ID_discovery_cases-DECIPHER_296482
Unknown
LINC01360
digregorio_17_DD/ID_discovery_cases-DECIPHER_300137
qPCR
Unknown
LRRC53,TYW3,ERICH3,ERICH3-AS1,CRYZ,FPGT-TNNI3K,TNNI3K
du_21_ASD/DD/ID_discovery_cases-case277
Unknown
NEGR1,NEGR1-IT1
engchuan_15_ASD_discovery_cases-case14179_2900
Unknown
NEGR1
engchuan_15_ASD_discovery_cases-case14215_3460
Unknown
engchuan_15_ASD_discovery_cases-case14242_3660
Unknown
engchuan_15_ASD_discovery_cases-case14387_4960
Unknown
engchuan_15_ASD_discovery_cases-case18094_301
Unknown
LINC01362
engchuan_15_ASD_discovery_cases-case20026_1123001
Unknown
engchuan_15_ASD_discovery_cases-case20153_1639001
Unknown
engchuan_15_ASD_discovery_cases-case2206_1
Unknown
engchuan_15_ASD_discovery_cases-case3072_8
Unknown
engchuan_15_ASD_discovery_cases-case3376_3
Unknown
engchuan_15_ASD_discovery_cases-case3473_3
Unknown
MTND2P30,RPL7P10,LINC01781
engchuan_15_ASD_discovery_cases-case3484_3
Unknown
engchuan_15_ASD_discovery_cases-case3541_2
Unknown
MGC27382,PTGFR
engchuan_15_ASD_discovery_cases-case4285_1
Unknown
engchuan_15_ASD_discovery_cases-case4339_1
Unknown
engchuan_15_ASD_discovery_cases-case4432_1
Unknown
engchuan_15_ASD_discovery_cases-case5269_3
Unknown
engchuan_15_ASD_discovery_cases-case5372_3
Unknown
engchuan_15_ASD_discovery_cases-case5446_3
Unknown
USP33
engchuan_15_ASD_discovery_cases-case5451_3
Unknown
PRKACB
engchuan_15_ASD_discovery_cases-case6180_4
Unknown
RNU6-503P,SLC44A5
engchuan_15_ASD_discovery_cases-case6350_5
Unknown
engchuan_15_ASD_discovery_cases-case8626_201
Unknown
gazzellone_14_ASD_discovery_cases-case647-3
Unknown
Unknown
Unknown
girirajan_12_ASD/DD/ID_discovery_cases-case24222
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
MIR7156,RNU7-8P,RNA5SP20,RN7SL370P,RNA5SP21,NSRP1P1,HSPE1P25,RNU6-1102P,RNA5SP22,RNFT1P2,RNA5SP23,PSAT1P3,ADH5P2,ACTG1P21,NEXN-AS1,NEXN,FUBP1,IFI44,ST6GALNAC5,PIGK,AK5,USP33,MIGA1,DNAJB4,GIPC2,MGC27382,PTGFR,ADGRL4,IFI44L
girirajan_12_ASD/DD/ID_discovery_cases-case29221
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
HMGB1P18,HNRNPA1P64,LINC01781
handrigan_13_ASD/DD/ID_discovery_cases-patient21
Paternal
Unknown
Unknown
ST13P20,ADGRL2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004615
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NEGR1,ZRANB2-AS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004707
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LRRC40,LRRC7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004891
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MED28P8,ST13P20,ADGRL2
krumm_13_ASD_discovery_cases-case12906.p1
Maternal
Simplex
Segregated
FPGT,FPGT-TNNI3K,TNNI3K
krumm_15_ASD_discovery_cases-case12600.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
DLSTP1,SNORD45C,SNORD45A,SNORD45B,RABGGTB,ASB17,ACADM,MSH4
krumm_15_ASD_discovery_cases-case13066.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
ST6GALNAC3
krumm_15_ASD_discovery_cases-case13395.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CTH
levy_11_ASD_discovery_cases-11231.p1
Paternal
Simplex
Not segregated
LRRC53,FPGT-TNNI3K,TNNI3K
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
RPL31P12
maini_18_ASD/DD/ID_discovery_cases-case_unknown87
De novo
Unknown
Unknown
TTLL7-IT1,LINC01361,LINC01712,SAMD13,UOX,LINC01362,LINC01725,PRKACB,DNASE2B,TTLL7
maini_18_ASD/DD/ID_discovery_cases-case_unknown88
De novo
Unknown
Unknown
RN7SL242P,LRRC40,SRSF11,ANKRD13C,HHLA3,CTH,LRRC7
maini_18_ASD/DD/ID_discovery_cases-case_unknown89
Paternal
Unknown
Unknown
LRRC53,ERICH3,ERICH3-AS1,FPGT-TNNI3K,TNNI3K
mosca_16_DCD_discovery_cases-case121803
Unknown
Unknown
Unknown
nava_13_ASD_discovery_cases-Fam333Proband139
Both parents
Simplex
Unknown
PTGER3
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
Maternal
Multi-generational
Unknown
RPL31P12
pinto_10_ASD_discovery_cases-case5446_3
Agilent1M
paternal
NA
NA
USP33
pinto_10_ASD_discovery_cases-case6180_4
qPCR-Maternal
maternal
Simplex
NA
RNU6-503P,SLC44A5
poultney_13_ASD_discovery_cases-case00HI1326A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CTH
prasad_12_ASD_discovery_cases-case100678L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case168999
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case47607
Unknown
Unknown
Unknown
SLC44A5
prasad_12_ASD_discovery_cases-case57928
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60980L
Unknown
Unknown
Unknown
PTGER3
prasad_12_ASD_discovery_cases-case76018L
Unknown
Unknown
Unknown
CRYZ
prasad_12_ASD_discovery_cases-case83536
Unknown
Unknown
Unknown
USP33
quintela_17_DD/ID_discovery_cases-caseID_617
Unknown
Unknown
LINC01361,LINC01362
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
Not tested by qPCR
Unknown
Unknown
Unknown
PRKACB
sanders_11_ASD_discovery_cases-11033.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AK5
sanders_11_ASD_discovery_cases-11088.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11090.p1
Both parents
Simplex (quad-proband matched)
Segregated
MSH4
sanders_11_ASD_discovery_cases-11091.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11101.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NEGR1
sanders_11_ASD_discovery_cases-11144.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MSH4
sanders_11_ASD_discovery_cases-11146.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ADGRL2
sanders_11_ASD_discovery_cases-11277.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PTGER3
sanders_11_ASD_discovery_cases-11304.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MSH4
sanders_11_ASD_discovery_cases-11437.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PRKACB
sanders_11_ASD_discovery_cases-11540.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11540.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PTGER3
sanders_11_ASD_discovery_cases-11541.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ASB17,MSH4
sanders_11_ASD_discovery_cases-11780.p1
Maternal
Simplex (trio)
NA
MSH4
sanders_11_ASD_discovery_cases-11824.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11975.p1
Both parents
Simplex (trio)
NA
MSH4
sanders_11_ASD_discovery_cases-12019.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
PTGER3
sanders_11_ASD_discovery_cases-12041.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PTGFR
sanders_11_ASD_discovery_cases-12044.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MSH4
sanders_11_ASD_discovery_cases-12150.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MSH4
sanders_11_ASD_discovery_cases-12198.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AK5
sanders_11_ASD_discovery_cases-12221.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
MSH4
sanders_11_ASD_discovery_cases-12228.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12239.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ADGRL2
sanders_11_ASD_discovery_cases-12260.p1
Maternal
Simplex (trio)
NA
PRKACB
sanders_11_ASD_discovery_cases-12335.p1
Both parents
Simplex (quad-proband matched)
Segregated
MSH4
sanders_11_ASD_discovery_cases-12339.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01360
sanders_11_ASD_discovery_cases-12351.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IFI44L
sanders_11_ASD_discovery_cases-12378.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12424.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AK5
sanders_11_ASD_discovery_cases-12536.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12552.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12574.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ST6GALNAC5
sanders_11_ASD_discovery_cases-12600.p1
Maternal
Simplex (trio)
NA
DLSTP1,SNORD45C,SNORD45A,SNORD45B,RABGGTB,ASB17,ACADM,MSH4,ST6GALNAC3
sanders_11_ASD_discovery_cases-12600.p1
Maternal
Simplex (trio)
NA
LINC02238
sanders_11_ASD_discovery_cases-12661.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12681.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNORD45B,RABGGTB,MSH4
sanders_11_ASD_discovery_cases-12916.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU4ATAC8P
sanders_11_ASD_discovery_cases-13035.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MSH4
sanders_11_ASD_discovery_cases-13076.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sansovic_17_DD/ID/ASD_discovery_cases-case20
Unknown
PSAT1P3,ADGRL4
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
RPL31P12
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
RPL31P12
soueid_16_ASD_discovery_cases-caseBAK39
Maternal
Simplex
TYW3,CRYZ
stamouli_18_ASD/NDD_discovery_cases-family67_Twin_1
Maternal
Simplex
Not segregated (CNV also present in unaffected twin)
ZRANB2-AS2
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
RPL31P12
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
RPL31P12
xu_16_ASD/DD/ID_discovery_cases-case37
Maternal
RNU6-503P,DLSTP1,SNORD45C,SNORD45A,SNORD45B,RABGGTB,ASB17,ACADM,MSH4,ST6GALNAC3,SLC44A5
yin_16_ASD_discovery_cases-case22
Unknown
Unknown
Unknown
LINC01788,PTGER3
yin_16_ASD_discovery_cases-case23
Unknown
Unknown
Unknown
ST13P20,ADGRL2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC09975
No validation step reported
Paternal
USP33
engchuan_15_ASD_discovery_controls-control110036015386_
Unknown
engchuan_15_ASD_discovery_controls-controlB247954_1007854082
Unknown
SRSF11,ANKRD13C
engchuan_15_ASD_discovery_controls-controlB268227_1007841416
Unknown
LINC01362
engchuan_15_ASD_discovery_controls-controlB324430_1007841789
Unknown
ADGRL4
engchuan_15_ASD_discovery_controls-controlB407753_1007874851
Unknown
RNA5SP21,ACTG1P21,USP33,MIGA1
engchuan_15_ASD_discovery_controls-controlB628278_1007846477
Unknown
ADH5P2
engchuan_15_ASD_discovery_controls-controlB671653_1007853865
Unknown
RNFT1P2,RNA5SP23,IFI44,MGC27382,PTGFR,IFI44L
engchuan_15_ASD_discovery_controls-controlB761543_1007854154
Unknown
engchuan_15_ASD_discovery_controls-controlB839667_1007852937
Unknown
ADH5P2
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900129_900129
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900174_900174
Unknown
RN7SKP19,RNA5SP50,RNU4ATAC8P,KRT8P21,LINC01360,LINC02238
engchuan_15_ASD_discovery_controls-controlHABC_900181_900181
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900182_900182
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900254_900254
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900263_900263
Unknown
NEGR1,ZRANB2-AS2
engchuan_15_ASD_discovery_controls-controlHABC_900282_900282
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900366_900366
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900370_900370
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901109_901109
Unknown
LRRC53,FPGT-TNNI3K,TNNI3K
engchuan_15_ASD_discovery_controls-controlHABC_901130_901130
Unknown
PTGER3
engchuan_15_ASD_discovery_controls-controlHABC_901151_901151
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901159_901159
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902615_902615
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902622_902622
Unknown
FPGT,LRRC53,LRRIQ3,FPGT-TNNI3K,TNNI3K
engchuan_15_ASD_discovery_controls-controlHABC_902630_902630
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902745_902745
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902758_902758
Unknown
SLC44A5
engchuan_15_ASD_discovery_controls-controlHABC_902854_902854
Unknown
krumm_15_ASD_discovery_controls-control13058.s1
Omni2.5-4v1
Paternal
PTGER3
leblond_19_ASD_discovery_controls-siblingPN400517
Unknown
SGO1P1,LRRC7
levy_11_ASD_discovery_controls-11231.s1
Paternal
Simplex
NA
LRRC53,FPGT-TNNI3K,TNNI3K
nord_11_ASD_discovery_controls-04C27162
0 genes
poultney_13_ASD_discovery_controls-control04C32515B
Unknown
SRSF11,ANKRD13C
sanders_11_ASD_discovery_controls-11027.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11029.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11033.s1
Paternal
Simplex (quad)
NA
AK5
sanders_11_ASD_discovery_controls-11055.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11091.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11144.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11146.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11196.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11291.s1
Paternal
Simplex (quad)
NA
MSH4
sanders_11_ASD_discovery_controls-11330.s1
Paternal
Simplex (quad)
NA
MSH4
sanders_11_ASD_discovery_controls-11345.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11349.s1
Maternal
Simplex (quad)
NA
SAMD13,UOX
sanders_11_ASD_discovery_controls-11393.s1
Unknown
Simplex (quad)
NA
MSH4
sanders_11_ASD_discovery_controls-11476.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11480.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11569.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11620.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11707.s1
Maternal
Simplex (quad)
NA
MSH4
sanders_11_ASD_discovery_controls-11964.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11984.s1
Both parents
Simplex (quad)
NA
MSH4
sanders_11_ASD_discovery_controls-12184.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12198.s1
Maternal
Simplex (quad)
NA
AK5
sanders_11_ASD_discovery_controls-12228.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12339.s1
Paternal
Simplex (quad)
NA
LINC01360
sanders_11_ASD_discovery_controls-12378.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12424.s1
Maternal
Simplex (quad)
NA
AK5
sanders_11_ASD_discovery_controls-12497.s1
Maternal
Simplex (quad)
NA
AK5
sanders_11_ASD_discovery_controls-12552.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12610.s1
Maternal
Simplex (quad)
NA
AK5
sanders_11_ASD_discovery_controls-12758.s1
Paternal
Simplex (quad)
NA
NEGR1
sanders_11_ASD_discovery_controls-12925.s1
Maternal
Simplex (quad)
NA
NEGR1
stamouli_18_ASD/NDD_discovery_controls-family67_Twin_2
Maternal
Simplex
ZRANB2-AS2
No Animal Model Data Available