2q34CNV Type: Deletion-Duplication
Largest CNV size: 360038 bp
Statistics Box:
Number of Reports: 25
Number of Reports: 25
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability.
Deletion
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Micro-duplications of 1q32.1 associated with neurodevelopmental delay.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-Duplication
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
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.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
293822
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
136
1
0
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
53000
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
189115
5
4
9
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
257057
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
102194
0
1
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
85143
1
2
3
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
351962
1
1
2
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
64846
1
0
1
kasnauskiene_13_ID_discovery_cases
First child of healthy non-consanguineous parents presenting with intellectual disability
1
Intellectual disability (ID), severe language delay, behavioral problems (hyperactivity, aggression, irritability), and mild dysmorphic features
15 yrs.
Male
958000
1
0
1
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
167400
1
0
1
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
243499
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
243499
5
3
8
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
308399
1
1
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
100000
1
0
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
133000
1
0
1
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
22921
1
0
1
olson_12_ASD/DD_discovery_cases
Probands with neurodevelopmental delay examined by diagnostic chromosomal microarray (CMA) testing performed at the Genetic Diagnostic Laboratory, Children's Hospital Boston (CHB)
>8000
ASD/developmental delay (DD)
NA
NA
183000
1
0
1
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
1407893
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
26008
0
5
5
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)
16046
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
23163
5
0
5
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
360038
21
6
27
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
87722
1
0
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
16782
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
14786
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
35857
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
171544
3
2
5
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
0
0
0
0
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
1076530
0
1
1
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
16891
1
0
1
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
0
0
0
0
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
243499
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
243499
1
1
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
308399
1
0
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
145255
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)
23163
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.
305061
15
2
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
87722
1
0
1
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
16782
N/A
N/A
N/A
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
14786
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
kasnauskiene_13_ID_discovery_cases
Lithuania
aCGH
Agilent 400K oligoarray
Feature Extraction, Genomic Workbench v5.0.14
Real-time PCR
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
olson_12_ASD/DD_discovery_cases
NA
aCGH
Agilent 244K
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
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
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
qPCR
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
qPCR
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
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)
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
qPCR
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_cases-caseAB91
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
209842364
210136185
293822
GRCh38
Deletion
No
brandler_18_ASD_discovery_cases-caseSSC04565
N/A
M
ASD
Case from SSC cohort
212783132
212783268
137
GRCh38
Deletion
No
bremer_11_ASD_discovery_cases-case19
10
M
ASD
Non-syndromic ASD, broad neuropsychiatric pehnotype familial case
IQ>70
211495527
211548039
52513
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case1265_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
212978148
213167263
189116
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14229_3630
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
210773830
210879909
106080
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20068_1324001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
211486942
211548950
62009
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3126_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
211967709
212052033
84325
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3255_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
214235111
214265858
30748
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4541_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
212557040
212707815
150776
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5509_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
212158713
212257993
99281
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6053_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
212264486
212308447
43962
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6227_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
211938040
211981179
43140
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1331303
Autism
212837456
213094512
257057
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU022804
Autism
211346068
211448261
102194
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case544-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
213526410
213560198
33789
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case550-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
208817868
208838996
21129
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case692-3
5 yrs.
M
ASD
Typical autistic features, no evidence of any growth problems
N/A
211192424
211277567
85144
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11811.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
212197558
212549521
351964
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12239.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
213348276
213366622
18347
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-case19D0154
6 mos. 7 days
F
Developmental delay
211486459
211551304
64846
GRCh38
Deletion
No
kasnauskiene_13_ID_discovery_cases-case1
15 yrs.
M
Intellectual disability
Birth/neonatal history: normal pregnancy and delivery; birth weight 50th %ile, length 25th-50th %ile. Developmental milestones: severe language delay (unclear speech, case could pronounce separate syllabaries at age of 5 years); normal motor development (started to sit unsupported at age of 8 months, able to walk independently at 12 months). Lanaguage and communication evaluation: extremely low communicaton skills. Behavioral/psychiatric evaluation: behavioral problems such as hyperactivity present at preschool age; case exhibited higher levels of aggressive behavior and irritability with age. Brain imaging: cranial CT scan did not disclose any brain structural lesions. Dysmorphic features: mild dysmorphic features; thick eyebrows, synophris, deep set eyes, bulbous nasal tip, protruding ears, thick vermillion of the lips, 5th finger clinodactyly. Growth parameters: height of 184 cm (97th %ile) and weight of 82 kg (97th %ile) at age fo 15 years. Family history: first child born to healthy non-consanguineous parents.
Moderate intellectual disability diagnosed at preschool age; psychological evaluation by WISC-III failed; Denver developmental screening test results: level of 5 years for social contact, 1.5 years for language, 4.5 years for fine motor skills, 5 years for gross motor skills.
211932324
212890183
957860
GRCh38
Deletion
Yes
kousoulidou_13_ASD_discovery_cases-patient5
N/A
M
Autism
Autism
211948374
212115803
167430
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11622.p1
N/A
M
ASD
ASD proband from SSC quad family 11622. SRS score of 90.
Full-scale IQ (FSIQ) score of 97.
210434486
210677985
243500
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11023.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
208170944
208186986
16043
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11347.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
210455106
210477769
22664
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11506.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
208170944
208186986
16043
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11622.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
210434486
210677985
243500
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12805.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
208170944
208186986
16043
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13034.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
208304170
208326429
22260
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13703.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
210002661
210025216
22556
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14117.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
208304170
208326429
22260
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11622.p1
NA
M
ASD
NA
NA
210433045
210741443
308399
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11717.p1
NA
M
ASD
NA
NA
210201537
210277526
75990
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown141
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)
214086780
214186333
99554
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case5601
NA
ASD
NA
NA
213966000
214099000
133000
Unknown
Deletion
No
mosca_16_DCD_discovery_cases-case118903
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
213730378
213753298
22921
GRCh38
Deletion
No
olson_12_ASD/DD_discovery_cases-case1
5 yrs.
M
PDD-NOS
Diagnosis of PDD-NOS based on ADOS and neuropsychological evaluation at age of 4.5 years. Additional diagnosis of Anxiety Disorder, Not Otherwise Specified. Birth/neonatal history: born at full term with no prenatal or perinatal complications. Developmental milestones: global developmental delay without regression; development of two word phrases at 3 years; walking at 2 years. Verbal and nonverbal skills in low average range/slower learning range (Differential Ability Scale, 2nd Edition). Behavioral/neurological characteristics: irritability, aggression, difficulty with social skills, sensory seeking behaviors and repetitive & compulsive behaviors; staring spells without other features to suggest seizures, migraine headaches, paresthesias of the hands (now resolved). EEG: normal. Spinal MRI: normal. Brain MRI: small non-specific subcortical white matter T2 hyperintensities in frontal and parietal lobes bilaterally and a larger focus in right occipital lobe, whch were not enhancing. Dysmorphic features: mildly everted ears. Growth parameters: height, 106 cm (61st %ile); weight, 22.5 kg (98th %ile, +2 SD); head circumference, 51 cm (59th %ile). Family history: non-consanguineous parents; father with learning difficulties including dyslexia; mother with learning disabilities and epilepsy; one brother and one maternal half-sister are healthy & developmentally normal; another maternal half-sister with ADHD; paternal aunt with intellectual disability.
Intellectual disability/global developmental delay. Kaufman Survey of Early Academic and Language Skills (KSEALS): low average knoweldge.
NA
NA
183000
GRCh37
Deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
N/A
M
ASD and ADHD
Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
TIQ score of 109
212716749
214124642
1407894
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case14029_560
NA
M
Autism
Language delay, neurodevelopmental delay, no epilepsy, no dysmorphic features
Normal IQ
214235111
214257028
21918
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case14164_2680
NA
M
Autism
Phrase speech delay, no epilepsy, no dysmorphic features
Normal IQ
214235111
214257028
21918
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case14200_3240
NA
M
Autism
Phrase speech delay, no epilepsy, no dysmorphic features
Normal IQ
214803990
214829997
26008
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case14301_4220
NA
M
Autism
Phrase speech delay, no epilepsy, no dysmorphic features, vision problems (unspecific refraction defect)
Normal IQ
214235111
214257028
21918
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case14309_4260
NA
M
Autism
Phrase speech delay, no epilepsy, neurodevelopmental delay with onset at 2 y, no dysmorphic features
Mild MR
214235111
214257028
21918
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case01HI2299A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU076304; NDAR ID NDAR_INVKK797NPG)
208170943
208186988
16046
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case138145L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
212395514
212407126
11613
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case60921
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
213922738
213938210
15473
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case71182
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
209350146
209373308
23163
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case90188
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
212595621
212601943
6323
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case92540L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
213900182
213923138
22957
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
211872419
211879461
7043
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11063.p1
9.3
M
Aspergers
NA
Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
214235111
214257028
21918
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11207.p1
14.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 91; verbal IQ, 70
209233912
209250172
16261
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11347.p1
15.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
210455100
210505406
50307
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11367.p1
7.6
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119
208724655
208745884
21230
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
209179694
209350548
170855
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11499.p1
7
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
208776965
208784068
7104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11556.p1
9.7
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
208776965
208784068
7104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
210432631
210737692
305062
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11798.p1
4.8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 113
208776965
208784068
7104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11811.p1
16.9
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
212197001
212557040
360040
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11981.p1
6.6
F
Aspergers
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
212320097
212329681
9585
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
209223356
209250172
26817
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
212320097
212329681
9585
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
209945005
209955503
10499
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
209945005
209955503
10499
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
213343566
213366321
22756
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12346.p1
13.4
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
208724655
208745884
21230
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
210846828
210847916
1089
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
214235111
214257028
21918
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12444.p1
9.5
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
212024263
212026676
2414
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12655.p1
8.9
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 64; verbal IQ, 28
212186038
212206389
20352
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12937.p1
17.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
212179202
212210705
31504
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12941.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
210854161
210865706
11546
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
213707955
213715585
7631
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
210106259
210107051
793
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
209944181
209976448
32268
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family63_Twin_4
N/A
N/A
ASD/NDD
Case is from a dizygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
211942920
212030641
87722
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case1-0455-003
N/A
M
ASD
N/A
N/A
212858576
212875357
16782
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case89
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
213460325
213475110
14786
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control20034
N/A
F
Control
Control
212188514
212224370
35857
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036017911_
N/A
N/A
Control
No previous psychiatric history
211486942
211551304
64363
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036024412_
N/A
N/A
Control
No previous psychiatric history
209179004
209350548
171545
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB285779_1007874679
N/A
N/A
Control
No previous psychiatric history
209179004
209350548
171545
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900102_900102
N/A
N/A
Control
No previous psychiatric history
211486942
211562664
75723
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
N/A
N/A
Control
No previous psychiatric history
211981179
212017465
36287
GRCh38
Deletion
No
guo_17_ASD_discovery_controls-controlPY2755
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
211924170
213000700
1076531
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_controls-control_split1076
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
209033557
209050447
16891
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11622.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11622. SRS score of 50.
210434486
210677985
243500
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11622.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
210434486
210677985
243500
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14117.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
208304170
208330694
26525
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11622.s1
NA
F
Control
NA
NA
210433045
210741443
308399
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C29640A
N/A
M
Control
NIMH Control (NIMH ID 89524)
210075550
210220804
145255
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11023.s1
10.4
F
Control (matched sibling)
NA
NA
214235111
214257028
21918
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11063.s1
7.3
M
Control (matched sibling)
NA
NA
214235111
214254606
19496
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11181.s1
4.3
F
Control (matched sibling)
NA
NA
212017465
212100806
83342
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11367.s1
4.6
F
Control (matched sibling)
NA
NA
208728545
208752984
24440
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11499.s1
12.9
M
Control (matched sibling)
NA
NA
208776965
208784068
7104
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11556.s1
7.3
F
Control (matched sibling)
NA
NA
208776965
208784068
7104
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11622.s1
11.1
F
Control (matched sibling)
NA
NA
210432631
210737692
305062
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11765.s1
7.8
F
Control (matched sibling)
NA
NA
209135858
209162074
26217
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11810.s1
4.4
F
Control (matched sibling)
NA
NA
212311909
212326665
14757
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
212327324
212329681
2358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12346.s1
15
M
Control (matched sibling)
NA
NA
208724655
208745884
21230
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12377.s1
20.6
F
Control (matched sibling)
NA
NA
213858900
213914603
55704
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12441.s1
10.6
F
Control (matched sibling)
NA
NA
208722710
208745884
23175
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12444.s1
7
M
Control (matched sibling)
NA
NA
212024263
212026676
2414
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12931.s1
13.6
F
Control (matched sibling)
NA
NA
212311909
212354557
42649
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12938.s1
17.3
M
Control (matched sibling)
NA
NA
213875609
213914603
38995
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
209944181
209976448
32268
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family63_Twin_3
N/A
N/A
Control
Control is from a dizygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
211942920
212030641
87722
GRCh38
Deletion
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_cases-caseAB91
Paternal
Simplex
RPE,KANSL1L-AS1,UNC80,KANSL1L
brandler_18_ASD_discovery_cases-caseSSC04565
Not available
Unknown
bremer_11_ASD_discovery_cases-case19
MLPA, FISH
Unknown
NA
NA
RNA5SP119,ERBB4
engchuan_15_ASD_discovery_cases-case1265_8
Unknown
LINC01953,IKZF2
engchuan_15_ASD_discovery_cases-case14229_3630
Unknown
engchuan_15_ASD_discovery_cases-case20068_1324001
Unknown
RNA5SP119,ERBB4
engchuan_15_ASD_discovery_cases-case3126_3
Unknown
ERBB4
engchuan_15_ASD_discovery_cases-case3255_3
Unknown
SPAG16
engchuan_15_ASD_discovery_cases-case4541_1
Unknown
engchuan_15_ASD_discovery_cases-case5509_3
Unknown
ERBB4
engchuan_15_ASD_discovery_cases-case6053_3
Unknown
ERBB4
engchuan_15_ASD_discovery_cases-case6227_4
Unknown
ERBB4
gai_11_ASD_discovery_cases-AU1331303
Inherited
ERBB4 (intronic)
gai_11_ASD_replication_cases-AU022804
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case544-3
Unknown
Unknown
Unknown
SPAG16
gazzellone_14_ASD_discovery_cases-case550-3
Unknown
Unknown
Unknown
PTH2R
gazzellone_14_ASD_discovery_cases-case692-3
Unknown
Unknown
Unknown
girirajan_13a_ASD_discovery_cases-11811.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MIR548F2,ERBB4
girirajan_13a_ASD_discovery_cases-12239.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
SPAG16
han_22_ASD/DD/ID_discovery_cases-case19D0154
Unknown
ERBB4,RNA5SP119
kasnauskiene_13_ID_discovery_cases-case1
Real-time PCR
De novo
Possibly simplex
Possibly segregated
MIR548F2,PCED1CP,LINC01878,ERBB4
kousoulidou_13_ASD_discovery_cases-patient5
qPCR
Maternal
Unknown
Unknown
ERBB4
krumm_13_ASD_discovery_cases-case11622.p1
Maternal
Simplex
Not segregated
CPS1-IT1,LANCL1,LANCL1-AS1,CPS1
krumm_15_ASD_discovery_cases-case11023.p1
Illumina 1M
Maternal
Simplex
Segregated
C2orf80
krumm_15_ASD_discovery_cases-case11347.p1
Illumina 1M
Maternal
Simplex
Segregated
LANCL1,LANCL1-AS1,CPS1
krumm_15_ASD_discovery_cases-case11506.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
C2orf80
krumm_15_ASD_discovery_cases-case11622.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CPS1-IT1,LANCL1,LANCL1-AS1,CPS1
krumm_15_ASD_discovery_cases-case12805.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
C2orf80
krumm_15_ASD_discovery_cases-case13034.p1
1M-Duov3
Paternal
Simplex
Segregated
PIKFYVE
krumm_15_ASD_discovery_cases-case13703.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RPE,KANSL1L
krumm_15_ASD_discovery_cases-case14117.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PIKFYVE
levy_11_ASD_discovery_cases-11622.p1
Maternal
Simplex
Not segregated
CPS1-IT1,LANCL1,LANCL1-AS1,CPS1
levy_11_ASD_discovery_cases-11717.p1
Maternal
Simplex
Segregated
ACADL
maini_18_ASD/DD/ID_discovery_cases-case_unknown141
De novo
Unknown
Unknown
SPAG16
morrow_08_ASD_discovery_cases-case5601
Maternal
NA
NA
Sperm associated antigen 16 isoform 1
mosca_16_DCD_discovery_cases-case118903
Unknown
Unknown
Unknown
SPAG16
olson_12_ASD/DD_discovery_cases-case1
Paternal
Simplex for ASD; multiplex for neuropsychiatric disorder (maternal half-sister with ADHD)
Unknown
ERBB4 (intronic)
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
Maternal
Multi-generational
Unknown
PCED1CP,MIR4776-1,MIR4776-2,MIR4438,LINC01878,LINC01953,IKZF2,SPAG16
pinto_10_ASD_discovery_cases-case14029_560
qPCR
paternal
Simplex
NA
SPAG16
pinto_10_ASD_discovery_cases-case14164_2680
qPCR
maternal
NA
NA
SPAG16
pinto_10_ASD_discovery_cases-case14200_3240
qPCR
paternal
Simplex
NA
SPAG16 exonic
pinto_10_ASD_discovery_cases-case14301_4220
qPCR
paternal
Simplex
NA
SPAG16
pinto_10_ASD_discovery_cases-case14309_4260
qPCR
paternal
Simplex
NA
SPAG16
poultney_13_ASD_discovery_cases-case01HI2299A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
C2orf80
prasad_12_ASD_discovery_cases-case138145L
qPCR
Unknown
Unknown
Unknown
ERBB4
prasad_12_ASD_discovery_cases-case60921
Unknown
Unknown
Unknown
SPAG16
prasad_12_ASD_discovery_cases-case71182
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case90188
qPCR
Maternal
Unknown
Unknown
ERBB4
prasad_12_ASD_discovery_cases-case92540L
Unknown
Unknown
Unknown
SPAG16
sanders_11_ASD_discovery_cases-11001.p1
Unknown
Simplex (trio)
NA
ERBB4
sanders_11_ASD_discovery_cases-11063.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SPAG16
sanders_11_ASD_discovery_cases-11207.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11347.p1
Maternal
Simplex (quad-proband matched)
Segregated
LANCL1,LANCL1-AS1,CPS1
sanders_11_ASD_discovery_cases-11367.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTH2R
sanders_11_ASD_discovery_cases-11476.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MEAF6P1,PKP4P1
sanders_11_ASD_discovery_cases-11499.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTH2R
sanders_11_ASD_discovery_cases-11556.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PTH2R
sanders_11_ASD_discovery_cases-11622.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CPS1-IT1,LANCL1,LANCL1-AS1,CPS1
sanders_11_ASD_discovery_cases-11798.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PTH2R
sanders_11_ASD_discovery_cases-11811.p1
Maternal
Simplex (trio)
NA
MIR548F2,ERBB4
sanders_11_ASD_discovery_cases-11981.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ERBB4
sanders_11_ASD_discovery_cases-11989.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12083.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ERBB4
sanders_11_ASD_discovery_cases-12117.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UNC80
sanders_11_ASD_discovery_cases-12221.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
UNC80
sanders_11_ASD_discovery_cases-12239.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPAG16
sanders_11_ASD_discovery_cases-12346.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PTH2R
sanders_11_ASD_discovery_cases-12396.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12396.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPAG16
sanders_11_ASD_discovery_cases-12444.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ERBB4
sanders_11_ASD_discovery_cases-12655.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ERBB4
sanders_11_ASD_discovery_cases-12937.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ERBB4
sanders_11_ASD_discovery_cases-12941.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13076.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SPAG16
sanders_11_ASD_discovery_cases-13076.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KANSL1L
sanders_11_ASD_discovery_cases-13296.p1
Unknown
Simplex (quad-proband matched)
Not segregated
UNC80
stamouli_18_ASD/NDD_discovery_cases-family63_Twin_4
qPCR
Maternal
Simplex
Not segregated (CNV also present in unaffected twin)
ERBB4
walker_13_ASD_discovery_cases-case1-0455-003
Unknown
Multiplex
Unknown
yin_16_ASD_discovery_cases-case89
Unknown
Unknown
Unknown
SPAG16
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20034
Unknown
ERBB4
engchuan_15_ASD_discovery_controls-control110036017911_
Unknown
RNA5SP119,ERBB4
engchuan_15_ASD_discovery_controls-control110036024412_
Unknown
MEAF6P1,PKP4P1
engchuan_15_ASD_discovery_controls-controlB285779_1007874679
Unknown
MEAF6P1,PKP4P1
engchuan_15_ASD_discovery_controls-controlHABC_900102_900102
Unknown
RNA5SP119,ERBB4
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
Unknown
ERBB4
guo_17_ASD_discovery_controls-controlPY2755
qPCR
Unknown
MIR548F2,PCED1CP,MIR4776-1,MIR4776-2,LINC01878,IKZF2,ERBB4
kanduri_15_ASD_discovery_controls-control_split1076
Unknown
C2orf80
krumm_13_ASD_discovery_controls-control11622.s1
Maternal
Simplex
CPS1-IT1,LANCL1,LANCL1-AS1,CPS1
krumm_15_ASD_discovery_controls-control11622.s1
Illumina 1MDuo
Maternal
CPS1-IT1,LANCL1,LANCL1-AS1,CPS1
krumm_15_ASD_discovery_controls-control14117.s1
Omni2.5-4v1
Maternal
PIKFYVE
levy_11_ASD_discovery_controls-11622.s1
Maternal
Simplex
NA
CPS1-IT1,LANCL1,LANCL1-AS1,CPS1
poultney_13_ASD_discovery_controls-control04C29640A
Unknown
ACADL,KANSL1L
sanders_11_ASD_discovery_controls-11023.s1
Maternal
Simplex (quad)
NA
SPAG16
sanders_11_ASD_discovery_controls-11063.s1
Paternal
Simplex (quad)
NA
SPAG16
sanders_11_ASD_discovery_controls-11181.s1
Paternal
Simplex (quad)
NA
ERBB4
sanders_11_ASD_discovery_controls-11367.s1
Maternal
Simplex (quad)
NA
PTH2R
sanders_11_ASD_discovery_controls-11499.s1
Maternal
Simplex (quad)
NA
PTH2R
sanders_11_ASD_discovery_controls-11556.s1
Paternal
Simplex (quad)
NA
PTH2R
sanders_11_ASD_discovery_controls-11622.s1
Maternal
Simplex (quad)
NA
CPS1-IT1,LANCL1,LANCL1-AS1,CPS1
sanders_11_ASD_discovery_controls-11765.s1
Paternal
Simplex (quad)
NA
CRYGFP
sanders_11_ASD_discovery_controls-11810.s1
Paternal
Simplex (quad)
NA
ERBB4
sanders_11_ASD_discovery_controls-11981.s1
Paternal
Simplex (quad)
NA
ERBB4
sanders_11_ASD_discovery_controls-12346.s1
Paternal
Simplex (quad)
NA
PTH2R
sanders_11_ASD_discovery_controls-12377.s1
Unknown
Simplex (quad)
NA
SPAG16
sanders_11_ASD_discovery_controls-12441.s1
Paternal
Simplex (quad)
NA
PTH2R
sanders_11_ASD_discovery_controls-12444.s1
Paternal
Simplex (quad)
NA
ERBB4
sanders_11_ASD_discovery_controls-12931.s1
Maternal
Simplex (quad)
NA
ERBB4
sanders_11_ASD_discovery_controls-12938.s1
Maternal
Simplex (quad)
NA
SPAG16
sanders_11_ASD_discovery_controls-13076.s1
Unknown
Simplex (quad)
NA
UNC80
stamouli_18_ASD/NDD_discovery_controls-family63_Twin_3
qPCR
Maternal
Simplex
ERBB4
No Animal Model Data Available