7q36.1CNV Type: Deletion-Duplication
Largest CNV size: 2900000 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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
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.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
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
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Duplication
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
113000
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
1000000
0
1
1
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
2900000
0
1
1
d'onofrio_23_ASD/DD/ID_discovery_cases
Female patient born to non-consanguineous Italian parents with a compound heterozygous mutation in the CNTNAP2 gene consisting of two inherited microdeletions from an initial cohort of 22 individuals with monoalleleic or biallelic CNTNAP2 variants.
1
Case was formally diagnosed with autism spectrum disorder (ASD) and also presented with developmental delay (DD), intellectual disability (ID), and epilepsy.
5 yrs.
Female
9318
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
759642
2
5
7
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
196039
2
0
2
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
1117825
3
1
4
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
61552
0
3
3
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
21413
0
1
1
hu_23_ASD_discovery_cases
Patients diagnosed with ASD in the Department of Child Healthcare, Children's Hospital of Fudan University, from June 2017 to March 2019 for genetic testing.
160
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria.
Mean age, 3.24 +/- 1.27 yrs.
78.12% Male
126300
0
1
1
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
381000
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
4075944
3
0
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
19680
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
178507
7
3
10
levchenko_22_DD/ID_discovery_cases
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
198
Cases presented with non-specific intellectual developmental delay (DD/ID).
Range, 6 mos.-65 yrs.
63.63% Male
1841
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
191992
0
1
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
433000
1
2
3
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
126000
1
0
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
142116
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
409861
1
1
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)
123403
3
0
3
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
407921
2
3
5
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
87559
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
78734
12
3
15
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
15565
0
1
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
133000
1
0
1
tosca_21_DD/ID/EP_discovery_cases
Individuals with de novo 7q36.1 deletions affecting the CNTNAP2 and KMT2C genes.
2
Both cases presented with developmental delay (DD) and seizures (EP); one case also presented with intellectual disability (ID) and stereotypy.
Range, 3-18 yrs.
50% Male
4332505
1
0
1
van_der_zwaag_09_ASD_discovery_cases
Samples and phenotypic data from ASD patients, Dept. of Child & Adolescent Psychiatry, UMC Utrcht
105
53 cases diagnosed with non-complex autism, 52 diagnosed with complex autism
212150
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
109297
1
1
2
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
464999
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
439685
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
234103
0
2
2
gai_11_ASD_discovery_controls
Samples recruited from visits conducted within CHOP healthcare network
1775
Controls: patients screened for having no chronic illness/health issues as well as autism
Range, 3-18 yrs.
N/A
0
gai_11_ASD_replication_controls
Healthy individuals comprising the CHOP CNV resource
2026
Controls
N/A
0
girirajan_13a_ASD_discovery_controls3
Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
8329
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
93628
0
4
4
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
193908
0
3
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
193908
11
3
14
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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)
4743
1
0
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
407921
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.
229584
14
3
17
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
43715
0
2
2
van_der_zwaag_09_ASD_discovery_controls
Ethnically matched, unrelated, healthy volunteers recruited by Dept. of Neurology, UMC Utrecht
267
Controls
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
109297
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
d'onofrio_23_ASD/DD/ID_discovery_cases
Italy
aCGH
NA
NA
NA
MLPA
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
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
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
hu_23_ASD_discovery_cases
China
Targeted gene sequencing
Panel of 568 ASD-related genes/Illumina HiSeq 2000
NA
CNVseq
qPCR/MLPA
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
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)
levchenko_22_DD/ID_discovery_cases
Russia
Array SNP
Affymetrix CytoScan HD, Affymetrix CytoScan XON
NA
NA
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
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
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tosca_21_DD/ID/EP_discovery_cases
Caucasian
aCGH
Agilent 180K
ADM-2
Agilent CytoGenomics v.4.0.3.12
FISH
van_der_zwaag_09_ASD_discovery_cases
Dutch
Solid phase hybridization
HumanHap300 Beadchip
BeadStudio genotyping V2.3.41
qPCR
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_controls
1005 European descent, 723 African descent, 47 Asian descent
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_controls
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_controls3
NA
Array SNP
N/A
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
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
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
van_der_zwaag_09_ASD_discovery_controls
Dutch
Solid phase hybridization
HumanHap300 Beadchip
BeadStudio genotyping V2.3.41
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case60045
N/A
M
NDD
Case with unspecified neurodevelopmental disorder
148950703
149063796
113094
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case56
5 yrs. 9 mos.
F
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
151876592
152759601
883010
GRCh38
Duplication
Yes
bremer_11_ASD_discovery_cases-case30
19
M
ASD
Non-syndromic ASD, sporadic case
IQ>70
149933446
152834137
2900692
GRCh38
Duplication
Yes
d'onofrio_23_ASD/DD/ID_discovery_cases-caseFam13-17
5 yrs.
F
ASD, developmental delay, intellectual disability, and epilepsy
Developmental milestones: developmental delay, developmental regression. Language and communication evaluation: language impairment. Motor and musculoskeletal evaluation: hypotonia, hyporeflexia, ataxia. Behavioral/psychiatric evaluation: formal diagnosis of autism spectrum disorder, sleep disorder. Epilepsy/seizures: epilepsy with seizure onset at 17 months; seizure types included febrile seizures, focal aware seizures, focal impaired awareness seizures, and focal to bilateral tonic-clonic seizures. EEG: alternating side ictal pattern involving the fronto-temporal regions. Brain imaging: inferior vermis hypoplasia, superior cerebellar vermis atrophy. Additional medical history: breathing disturbances, gastroesophageal reflux. Family history: born to non-consanguineous Italian parents; there was no family history of neurological disorders.
Severe intellectual disability
148374223
148383540
9318
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13037_463
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149754391
149845435
91045
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16074_1571042001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
151799740
152559383
759644
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1948_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
152492710
152545150
52441
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3424_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149761039
149831173
70135
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3518_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
152057922
152373073
315152
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5390_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
151963213
152373073
409861
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6100_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
152304103
152373073
68971
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU016205
Autism
149763221
149959259
196039
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU025704
Autism
149891853
150028050
136198
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-12185.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
152840175
153958000
1117826
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12957.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
152307244
152358742
51499
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13395.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
148332701
148379336
46636
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU016204
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
150436615
150640563
203949
GRCh38
Deletion
Yes
girirajan_13b_ASD_discovery_cases-27705103506
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
151034337
151086987
52651
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-27705103506
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
152120874
152182426
61553
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9907107878
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
151013253
151066709
53457
GRCh38
Duplication
No
husson_20_ASD_discovery_cases-case370
4 yrs.
M
ASD and intellectual disability
Diagnosis of ASD
Intellectual disability
152134962
152156374
21413
GRCh38
Duplication
Yes
hu_23_ASD_discovery_cases-case10
NA
M
ASD
Case clinically diagnosed with ASD according to DSM-V criteria.
152136831
152263130
126300
GRCh38
Duplication
Yes
kalsner_17_ASD_discovery_cases-case10
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
152295085
152676555
381471
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000064
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
150319864
152674271
2354408
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004265
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
149551612
149583388
31777
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005341
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148256584
152332535
4075952
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11146.p1
N/A
M
ASD
ASD proband from SSC quad family 11146. SRS score of 90.
Full-scale IQ (FSIQ) score of 85.
152136831
152156346
19516
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12578.p1
N/A
M
ASD
ASD proband from SSC quad family 12578. SRS score of 79.
Full-scale IQ (FSIQ) score of 81.
151008929
151028610
19682
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11146.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
152136831
152156346
19516
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11382.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11387.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
149859421
149879677
20257
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11415.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11469.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11551.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12826.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13705.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
151806822
151838659
31838
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14257.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
152136831
152315338
178508
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14373.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
150856470
150861209
4740
GRCh38
Deletion
Yes
levchenko_22_DD/ID_discovery_cases-caseD951
NA
M
Developmental delay/intellectual disability
Case presented with non-specific intellectual developmental disorder. Motor and musculoskeletal evaluation: hypotonia, varus feet. Brain imaging: hypoplasia of the cerebellum. Dysmorphic features: narrow forehead, moderately upturned nose, macrotomia, low-set ears, transverse palmar crease.
152237850
152239690
1841
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11268.p1
NA
M
ASD
NA
NA
151808190
152000182
191993
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown198
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)
148447665
148595996
148332
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown199
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)
150260297
150693604
433308
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown200
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)
152134952
152311332
176381
GRCh38
Duplication
No
napoli_17_ASD_discovery_cases-case30
N/A
F
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XX
152134952
152261051
126100
GRCh38
Deletion
Yes
pfundt_16_NDD_discovery_cases-case133
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: KCNH2 deletioin (ACMG)
150803399
150945515
142117
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1948_301
NA
M
ASD
NA
NA
152492710
152545150
52441
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5390_3
NA
M
ASD
NA
NA
151963213
152373073
409861
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case01HI1884A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU025704; NDAR ID NDAR_INVBV989RGU)
150569900
150693302
123403
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI2908A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1097302; NDAR ID NDAR_INVFK244CGQ)
150856469
150861211
4743
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI4226A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1496303; NDAR ID NDAR_INVZC100YBU)
150856469
150861211
4743
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case59233L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
151295228
151703148
407921
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case61182L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
149183138
149483298
300161
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case67839
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
148923950
148943658
19709
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case95237
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
148969293
148976820
7528
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case99006
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
149183138
149360997
177860
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1314-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
149802324
149889881
87558
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1400-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
Developmental delay: yes. Intellectual disability: no.
149862983
149933149
70167
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11382.p1
6.4
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 70; verbal IQ, 94
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11387.p1
8.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
149854904
149933638
78735
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11415.p1
11.6
M
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11469.p1
15.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 97; verbal IQ, 128
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11476.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
150538576
150542588
4013
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11551.p1
15.5
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11938.p1
4.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
151718095
151729019
10925
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12210.p1
16.3
M
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
149789158
149802381
13224
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12403.p1
11.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
148283834
148295479
11646
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12499.p1
6.9
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 67; verbal IQ, 56
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12578.p1
5.4
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 81
151008754
151026380
17627
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12596.p1
4.9
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
149504167
149507599
3433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12957.p1
9.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
152304103
152367898
63796
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
152023537
152087854
64318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
151185539
151186805
1267
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family19_Twin_2
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
150687062
150702626
15565
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR052-E3-HI0085
NA
ASD
NA
NA
150441264
150574264
133001
GRCh38
Deletion
Yes
tosca_21_DD/ID/EP_discovery_cases-case1
18 yrs.
F
Developmental delay, intellectual disability, seizures, and stereotypy
Birth/neonatal history: abnormal maternal serum screening for risk of aneuploidity at end of first trimester (normal fetal karyotype); birth at 39 weeks of amenorrhea; birth parameters with normal range for weight (2960 g) and height (49 cm), birth OFC 31 cm (-2.2 SD). Developmental milestones: developmental delay; delayed ability to walk (22 months), no language recorded at 3 years; unable to read or write and needed supervision to wash and dress herself at 18 years. Motor and musculoskeletal evaluation: hypotonia, talus abnormality, poor motor coordination, equinovarus. Behavioral/psychiatric evaluation: short attention span, stereotypy. Epilepsy/seizures: generalized seizures without fever with onset at 3 years, followed by absence seizures and complex partial seizures. Additional medical history: prolonged QT interval, exostoses. Dysmorphic features: microcephaly, hirsutism, retrognathia, synophrys, short nose, periorbital edema, anteverted nares, abnormality of the eyebrow, elbow hypertrichosis. Growth parameters: weight 44 kg, height 153 cm, OFC 50 cm (-4 SD). Family history: born to unrelated Caucasian parents.
Moderate-severe intellectual disability; specific learning disability
148350401
152682905
4332505
GRCh38
Deletion
Yes
van_der_zwaag_09_ASD_discovery_cases-subject088-004
NA
F
Non-complex autism
NA
NA
150928784
151150935
212150
Unknown
Duplication
Yes
yin_16_ASD_discovery_cases-case291
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
149675289
149784588
109300
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case292
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
152119117
152123736
4620
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0620-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Cerebral Palsy, Global Developmental Delay
152127916
152592915
465000
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0620-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
152142106
152581790
439685
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB336348_1007875346
N/A
N/A
Control
No previous psychiatric history
149102033
149154121
52089
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB589516_1007872578
N/A
N/A
Control
No previous psychiatric history
149854904
150089007
234104
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-11806105859
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
151008662
151080451
71790
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-4506105599
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
151003690
151080451
76762
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-54104102012
N/A
N/A
Control
Ethnicity: Hispanic
N/A
150986822
151080451
93630
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-66705104892
N/A
N/A
Control
Ethnicity: Caucasian
N/A
151013253
151066709
53457
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11146.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11146. SRS score of 40.
152136831
152156346
19516
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12578.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12578. SRS score of 42.
151008929
151028610
19682
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12837.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12837. SRS score of 57.
152136831
152330739
193909
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11146.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
152136831
152156346
19516
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11382.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11415.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11421.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11469.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11520.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12229.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12481.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12578.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
151008929
151028610
19682
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12826.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12837.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
152136831
152330739
193909
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13317.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150804826
150861209
56384
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13487.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150856470
150861209
4740
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14373.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
150856470
150861209
4740
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control05C42746A
N/A
F
Control
NIMH Control (NIMH ID 28364)
150856469
150861211
4743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11382.s1
11.3
F
Control (matched sibling)
NA
NA
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11415.s1
13.6
M
Control (matched sibling)
NA
NA
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11421.s1
8.7
F
Control (matched sibling)
NA
NA
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11469.s1
19.1
F
Control (matched sibling)
NA
NA
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11476.s1
10.8
F
Control (matched sibling)
NA
NA
150538576
150542588
4013
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11520.s1
10.8
M
Control (matched sibling)
NA
NA
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11590.s1
7.9
F
Control (matched sibling)
NA
NA
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11977.s1
13.3
F
Control (matched sibling)
NA
NA
151008754
151012207
3454
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
152024564
152058953
34390
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12229.s1
7.8
F
Control (matched sibling)
NA
NA
150856387
150861523
5137
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12255.s1
14.6
M
Control (matched sibling)
NA
NA
150538576
150542588
4013
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12403.s1
9.7
F
Control (matched sibling)
NA
NA
148283834
148296146
12313
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12481.s1
9
M
Control (matched sibling)
NA
NA
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
150856387
150863234
6848
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
151008754
151028635
19882
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12837.s1
6.5
F
Control (matched sibling)
NA
NA
152129183
152358767
229585
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13097.s1
12.4
F
Control (matched sibling)
NA
NA
152019364
152125905
106542
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family19_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
150687062
150702626
15565
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family48_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
149789168
149832881
43714
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case60045
MLPA
Paternal
Unknown
Unknown
RNY3,RNY1,GHET1,RNU6-650P,COX6B1P1,RNY4,PDIA4
battaglia_13_DD/ID/ASD_discovery_cases-case56
FISH or qPCR
Unknown
Unknown
Unknown
PRKAG2-AS1,RNU6-604P,YBX1P4,SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,GALNTL5,XRCC2,PRKAG2,KMT2C,FABP5P3,GALNT11
bremer_11_ASD_discovery_cases-case30
MLPA, FISH
Paternal
NA
NA
ZBED6CL,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,GIMAP1,GIMAP3P,BET1P1,TMEM176A,ATG9B,ASIC3,CDK5,TMUB1,ASB10,CHPF2,MIR671,WDR86-AS1,MIR3907,RN7SL76P,PRKAG2-AS1,RNU6-604P,YBX1P4,SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,ACTR3C,LRRC61,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,TMEM176B,AOC1,KCNH2,ABCB8,SLC4A2,FASTK,GBX1,IQCA1L,ABCF2,NUB1,CRYGN,ETF1P2,GALNTL5,XRCC2,RARRES2,GIMAP8,GIMAP1-GIMAP5,GIMAP5,AGAP3,SMARCD3,WDR86,RHEB,PRKAG2,KMT2C,FABP5P3,ACTR3B,GALNT11,NOS3
d'onofrio_23_ASD/DD/ID_discovery_cases-caseFam13-17
MLPA
Paternal
Simplex
CNTNAP2
engchuan_15_ASD_discovery_cases-case13037_463
Unknown
ZNF467,ZNF862,SSPO
engchuan_15_ASD_discovery_cases-case16074_1571042001
Unknown
PRKAG2-AS1,RNU6-604P,YBX1P4,SEPT7P6,CCT8L1P,LINC01003,GALNTL5,PRKAG2,KMT2C,FABP5P3,GALNT11
engchuan_15_ASD_discovery_cases-case1948_301
Unknown
engchuan_15_ASD_discovery_cases-case3424_3
Unknown
ZNF467,SSPO
engchuan_15_ASD_discovery_cases-case3518_3
Unknown
YBX1P4,SEPT7P6,KMT2C,GALNT11
engchuan_15_ASD_discovery_cases-case5390_3
Unknown
YBX1P4,SEPT7P6,GALNTL5,KMT2C,GALNT11
engchuan_15_ASD_discovery_cases-case6100_4
Unknown
SEPT7P6,KMT2C
gai_11_ASD_replication_cases-AU016205
Inherited
GIMAP8, GIMAP7, GIMAP4, GIMAP6
gai_11_ASD_replication_cases-AU025704
Inherited
GIMAP4, GIMAP6, GIMAP2
girirajan_13a_ASD_discovery_cases-12185.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
PAXBP1P1,LINC01287,ACTR3B,DPP6
girirajan_13a_ASD_discovery_cases-12957.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
KMT2C
girirajan_13a_ASD_discovery_cases-13395.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CNTNAP2
girirajan_13a_ASD_discovery_cases-AU016204
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
STRADBP1,ALDH7A1P3,GIMAP6,LINC00996,GIMAP7,GIMAP4,GIMAP8
girirajan_13b_ASD_discovery_cases-27705103506
Unknown
Unknown
Unknown
ASIC3,CDK5,TMUB1,ABCB8,SLC4A2,FASTK,AGAP3
girirajan_13b_ASD_discovery_cases-27705103506
Unknown
Unknown
Unknown
YBX1P4,KMT2C,GALNT11
girirajan_13b_ASD_discovery_cases-9907107878
Unknown
Unknown
Unknown
ATG9B,ASIC3,CDK5,ABCB8,SLC4A2,NOS3
husson_20_ASD_discovery_cases-case370
ddPCR, QMPSF, or aCGH
Paternal
Simplex
Unknown
KMT2C
hu_23_ASD_discovery_cases-case10
qPCR/MLPA
Unknown
KMT2C
kalsner_17_ASD_discovery_cases-case10
Maternal
Unknown
Unknown
SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,XRCC2,KMT2C,FABP5P3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000064
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ZBED6CL,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,GIMAP1,GIMAP3P,BET1P1,TMEM176A,ATG9B,ASIC3,CDK5,TMUB1,ASB10,CHPF2,MIR671,WDR86-AS1,MIR3907,RN7SL76P,PRKAG2-AS1,RNU6-604P,YBX1P4,SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ACTR3C,LRRC61,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,TMEM176B,AOC1,KCNH2,ABCB8,SLC4A2,FASTK,GBX1,IQCA1L,ABCF2,NUB1,CRYGN,ETF1P2,GALNTL5,XRCC2,RARRES2,GIMAP8,GIMAP1-GIMAP5,GIMAP5,AGAP3,SMARCD3,WDR86,RHEB,PRKAG2,KMT2C,FABP5P3,GALNT11,NOS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004265
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ZNF767P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005341
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL72P,RNU7-20P,RN7SL569P,RNY3,RNY1,GHET1,RNU6-650P,COX6B1P1,RN7SL521P,NPM1P12,ATP6V0E2-AS1,ZBED6CL,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,GIMAP1,GIMAP3P,BET1P1,TMEM176A,ATG9B,ASIC3,CDK5,TMUB1,ASB10,CHPF2,MIR671,WDR86-AS1,MIR3907,RN7SL76P,PRKAG2-AS1,RNU6-604P,YBX1P4,C7orf33,EZH2,RNY4,PDIA4,ZNF786,ZNF425,ZNF282,ZNF212,ZNF777,ZNF746,KRBA1,ZNF467,ZNF862,ATP6V0E2,ACTR3C,LRRC61,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,TMEM176B,AOC1,KCNH2,ABCB8,SLC4A2,FASTK,GBX1,IQCA1L,ABCF2,NUB1,CRYGN,ETF1P2,GALNTL5,CUL1,ZNF398,ZNF783,ZNF767P,SSPO,RARRES2,GIMAP8,GIMAP1-GIMAP5,GIMAP5,AGAP3,SMARCD3,WDR86,RHEB,PRKAG2,KMT2C,CNTNAP2,GALNT11,NOS3
krumm_13_ASD_discovery_cases-case11146.p1
Paternal
Simplex
Not segregated
KMT2C
krumm_13_ASD_discovery_cases-case12578.p1
Solid phase hybridization (Illumina 1M)
Paternal
Simplex
Not segregated
ATG9B,ABCB8,NOS3
krumm_15_ASD_discovery_cases-case11146.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
KMT2C
krumm_15_ASD_discovery_cases-case11382.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
AOC1
krumm_15_ASD_discovery_cases-case11387.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ATP6V0E2-AS1,ZNF862,ATP6V0E2
krumm_15_ASD_discovery_cases-case11415.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
AOC1
krumm_15_ASD_discovery_cases-case11469.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
AOC1
krumm_15_ASD_discovery_cases-case11551.p1
Illumina 1M
Paternal
Simplex
Segregated
AOC1
krumm_15_ASD_discovery_cases-case12826.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
AOC1
krumm_15_ASD_discovery_cases-case13705.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PRKAG2
krumm_15_ASD_discovery_cases-case14257.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
KMT2C
krumm_15_ASD_discovery_cases-case14373.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
AOC1
levchenko_22_DD/ID_discovery_cases-caseD951
Unknown
KMT2C
levy_11_ASD_discovery_cases-11268.p1
Maternal
Simplex
Segregated
PRKAG2-AS1,RNU6-604P,GALNTL5,PRKAG2
maini_18_ASD/DD/ID_discovery_cases-case_unknown198
Paternal
Unknown
Unknown
C7orf33
maini_18_ASD/DD/ID_discovery_cases-case_unknown199
Paternal
Unknown
Unknown
ZBED6CL,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,ACTR3C,LRRC61,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,RARRES2,GIMAP8
maini_18_ASD/DD/ID_discovery_cases-case_unknown200
Paternal
Unknown
Unknown
KMT2C
napoli_17_ASD_discovery_cases-case30
RT-PCR
De novo
KMT2C
pfundt_16_NDD_discovery_cases-case133
TMEM176A,AOC1,KCNH2
pinto_10_ASD_discovery_cases-case1948_301
Illumina550
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5390_3
Agilent1M
maternal
NA
NA
YBX1P4,SEPT7P6,GALNTL5,KMT2C,GALNT11
poultney_13_ASD_discovery_cases-case01HI1884A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GIMAP6,GIMAP2,GIMAP4
poultney_13_ASD_discovery_cases-case04HI2908A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AOC1
poultney_13_ASD_discovery_cases-case05HI4226A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AOC1
prasad_12_ASD_discovery_cases-case59233L
Unknown
Unknown
Unknown
GALNTL5,MLL3,GALNT11
prasad_12_ASD_discovery_cases-case61182L
Unknown
Unknown
Unknown
LOC401431,ATP6V0E2,ZNF862
prasad_12_ASD_discovery_cases-case67839
Unknown
Unknown
Unknown
ZNF767
prasad_12_ASD_discovery_cases-case95237
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case99006
Unknown
Unknown
Unknown
LOC401431,ATP6V0E2,ZNF862
sajan_13_ACC/CBLH/PMG_discovery_cases-case1314-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
ATP6V0E2-AS1,ZNF862,ATP6V0E2,SSPO
sajan_13_ACC/CBLH/PMG_discovery_cases-case1400-0
qPCR
Paternal
Unknown
Unknown
ATP6V0E2-AS1,ZNF862,ATP6V0E2
sanders_11_ASD_discovery_cases-11382.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AOC1
sanders_11_ASD_discovery_cases-11387.p1
Maternal
Simplex (trio)
NA
ATP6V0E2-AS1,ZNF862,ATP6V0E2
sanders_11_ASD_discovery_cases-11415.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AOC1
sanders_11_ASD_discovery_cases-11469.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AOC1
sanders_11_ASD_discovery_cases-11476.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ALDH7A1P3
sanders_11_ASD_discovery_cases-11551.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AOC1
sanders_11_ASD_discovery_cases-11938.p1
Paternal
Simplex (trio)
NA
PRKAG2
sanders_11_ASD_discovery_cases-12210.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SSPO
sanders_11_ASD_discovery_cases-12403.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CNTNAP2
sanders_11_ASD_discovery_cases-12499.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AOC1
sanders_11_ASD_discovery_cases-12578.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATG9B,NOS3
sanders_11_ASD_discovery_cases-12596.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12957.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
SEPT7P6,KMT2C
sanders_11_ASD_discovery_cases-13097.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GALNT11
sanders_11_ASD_discovery_cases-13337.p1
Maternal
Simplex (trio)
NA
ASB10
stamouli_18_ASD/NDD_discovery_cases-family19_Twin_2
Paternal
Simplex
Not segregated (CNV also present in unaffected twin)
GIMAP2
szatmari_07_ASD_discovery_cases-NAAR052-E3-HI0085
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
STRADBP1,ALDH7A1P3,LINC00996,GIMAP7,GIMAP4,GIMAP8
tosca_21_DD/ID/EP_discovery_cases-case1
FISH
De novo
AOC1,ALDH7A1P3,CDK5,EZH2,ZNF777,PRKAG2,TMEM176B,REPIN1,NUB1,CHPF2,GIMAP5,GIMAP4,TMEM176A,KMT2C,ZNF398,GALNT11,LRRC61,TMUB1,ZNF767P,KRBA1,AGAP3,COX6B1P1,ASB10,ZNF786,CRYGN,ATP6V0E2,GALNTL5,CCT8L1P,GIMAP8,C7orf33,FABP5P3,GIMAP7,ZNF746,GIMAP1,ZNF467,ZNF425,GBX1,ATG9B,LINC00996,ZNF775,WDR86,IQCA1L,STRADBP1,ATP6V0E2-AS1,RPL32P17,GIMAP3P,GIMAP6,ZNF862,ACTR3C,MIR671,YBX1P4,BET1P1,LINC01003,NOS3,KCNH2,RNU7-20P,WDR86-AS1,SEPTIN7P6,ZNF783,PRKAG2-AS1,MIR3907,GIMAP1-GIMAP5,RHEB,RNY1,RARRES2,RNY3,RNY4,GHET1,ZNF775-AS1,REPIN1-AS1,RN7SL76P,SMARCD3,ETF1P2,SLC4A2,RNU6-604P,RN7SL521P,RNU6-650P,RN7SL569P,RN7SL72P,ZNF212,XRCC2,ZNF282,CUL1,ABCF2,PDIA4,ASIC3,NPM1P12,FASTK,ABCB8,SSPOP,GIMAP2,CNTNAP2
van_der_zwaag_09_ASD_discovery_cases-subject088-004
qPCR
Maternal
NA
NA
PRKAG2, GALNTL5
yin_16_ASD_discovery_cases-case291
Unknown
Unknown
Unknown
KRBA1,ZNF467,SSPO
yin_16_ASD_discovery_cases-case292
Unknown
Unknown
Unknown
GALNT11
yuen_17_ASD_discovery_cases-case1-0620-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
YBX1P4,SEPT7P6,CCT8L1P,LINC01003,KMT2C,FABP5P3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0620-003
RT-qPCR or WGS
Unknown
SEPTIN7P6,CCT8L1P,LINC01003,KMT2C,FABP5P3
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB336348_1007875346
Unknown
RN7SL521P,ZNF425,ZNF398
engchuan_15_ASD_discovery_controls-controlB589516_1007872578
Unknown
ATP6V0E2-AS1,ZNF862,ATP6V0E2
girirajan_13b_ASD_discovery_controls-11806105859
Unknown
ATG9B,ASIC3,CDK5,ABCB8,SLC4A2,FASTK,NOS3
girirajan_13b_ASD_discovery_controls-4506105599
Unknown
ATG9B,ASIC3,CDK5,ABCB8,SLC4A2,FASTK,NOS3
girirajan_13b_ASD_discovery_controls-54104102012
Unknown
ATG9B,ASIC3,CDK5,ABCB8,SLC4A2,FASTK,NOS3
girirajan_13b_ASD_discovery_controls-66705104892
Unknown
ATG9B,ASIC3,CDK5,ABCB8,SLC4A2,NOS3
krumm_13_ASD_discovery_controls-control11146.s1
Paternal
Simplex
KMT2C
krumm_13_ASD_discovery_controls-control12578.s1
Paternal
Simplex
ATG9B,ABCB8,NOS3
krumm_13_ASD_discovery_controls-control12837.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
KMT2C
krumm_15_ASD_discovery_controls-control11146.s1
Illumina 1M
Paternal
KMT2C
krumm_15_ASD_discovery_controls-control11382.s1
Illumina 1M
Maternal
AOC1
krumm_15_ASD_discovery_controls-control11415.s1
Illumina 1M
Paternal
AOC1
krumm_15_ASD_discovery_controls-control11421.s1
Illumina 1M
Maternal
AOC1
krumm_15_ASD_discovery_controls-control11469.s1
Illumina 1M
Paternal
AOC1
krumm_15_ASD_discovery_controls-control11520.s1
Illumina 1M
Maternal
AOC1
krumm_15_ASD_discovery_controls-control12229.s1
Illumina 1MDuo
Paternal
AOC1
krumm_15_ASD_discovery_controls-control12481.s1
Illumina 1MDuo
Maternal
AOC1
krumm_15_ASD_discovery_controls-control12578.s1
Illumina 1MDuo
Paternal
ATG9B,ABCB8,NOS3
krumm_15_ASD_discovery_controls-control12826.s1
1M-Duov3
Paternal
AOC1
krumm_15_ASD_discovery_controls-control12837.s1
Illumina 1MDuo
Maternal
KMT2C
krumm_15_ASD_discovery_controls-control13317.s1
1M-Duov3
Paternal
TMEM176A,AOC1
krumm_15_ASD_discovery_controls-control13487.s1
1M-Duov3
Maternal
AOC1
krumm_15_ASD_discovery_controls-control14373.s1
Omni2.5-4v1
Paternal
AOC1
poultney_13_ASD_discovery_controls-control05C42746A
Unknown
AOC1
sanders_11_ASD_discovery_controls-11382.s1
Maternal
Simplex (quad)
NA
AOC1
sanders_11_ASD_discovery_controls-11415.s1
Paternal
Simplex (quad)
NA
AOC1
sanders_11_ASD_discovery_controls-11421.s1
Maternal
Simplex (quad)
NA
AOC1
sanders_11_ASD_discovery_controls-11469.s1
Paternal
Simplex (quad)
NA
AOC1
sanders_11_ASD_discovery_controls-11476.s1
Paternal
Simplex (quad)
NA
ALDH7A1P3
sanders_11_ASD_discovery_controls-11520.s1
Maternal
Simplex (quad)
NA
AOC1
sanders_11_ASD_discovery_controls-11590.s1
Paternal
Simplex (quad)
NA
AOC1
sanders_11_ASD_discovery_controls-11977.s1
Unknown
Simplex (quad)
NA
NOS3
sanders_11_ASD_discovery_controls-12117.s1
Maternal
Simplex (quad)
NA
GALNT11
sanders_11_ASD_discovery_controls-12229.s1
Paternal
Simplex (quad)
NA
AOC1
sanders_11_ASD_discovery_controls-12255.s1
Maternal
Simplex (quad)
NA
ALDH7A1P3
sanders_11_ASD_discovery_controls-12403.s1
Paternal
Simplex (quad)
NA
CNTNAP2
sanders_11_ASD_discovery_controls-12481.s1
Maternal
Simplex (quad)
NA
AOC1
sanders_11_ASD_discovery_controls-12499.s1
Maternal
Simplex (quad)
NA
AOC1
sanders_11_ASD_discovery_controls-12578.s1
Paternal
Simplex (quad)
NA
ATG9B,ABCB8,NOS3
sanders_11_ASD_discovery_controls-12837.s1
Maternal
Simplex (quad)
NA
YBX1P4,KMT2C
sanders_11_ASD_discovery_controls-13097.s1
Unknown
Simplex (quad)
NA
GALNTL5,GALNT11
stamouli_18_ASD/NDD_discovery_controls-family19_Twin_1
Paternal
Simplex
GIMAP2
stamouli_18_ASD/NDD_discovery_controls-family48_Twin_1
Unknown
Simplex
SSPO
No Animal Model Data Available