22q12.3CNV Type: Deletion-Duplication
Largest CNV size: 649150 bp
Statistics Box:
Number of Reports: 23
Number of Reports: 23
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Frequency and Complexity of De Novo Structural Mutation in Autism.
Deletion
22q12.3 microduplication overlapping the LARGE gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
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.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_16_ASD_discovery_cases
ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
71
Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
N/A
N/A
128195
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
128195
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
639997
2
5
7
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
219274
0
1
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
94356
1
1
2
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
430784
0
1
1
huang_17_ASD_discovery_cases
First child of non-consanguineous Chinese parents with no family history of congenital malformations
1
Case diagnosed with ASD
9 years
Male
575000
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
840626
5
4
9
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
205858
1
3
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
211080
2
6
8
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
204174
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
164000
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
108191
0
1
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
250843
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
66848
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
67864
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
259122
3
3
6
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
601000
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
204071
12
4
16
sherman_21_ASD_discovery_cases
ASD probands from the Simons Simplex Collection (n=2,594) and the SPARK cohort (n=9,483) screened for mosaic CNVs (mCNVs)
12077
Cohort diagnosis of ASD
Range, 3-40+ yrs.
NA
951780
0
1
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
2010000
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
649150
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
342268
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
65831
0
1
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
726511
0
8
8
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
430784
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
7735
1
0
1
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
29333
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
208692
1
3
4
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
86156
0
1
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
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)
259122
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.
84375
10
2
12
sherman_21_ASD_discovery_controls
Unaffected siblings of ASD probands from the Simons Simplex Collection (n=2,424) and the SPARK cohort (n=3,076) screened for mosaic CNVs (mCNVs)
5500
Control (unaffected siblings of ASD probands)
Range, 3-18 yrs.
NA
0
0
0
0
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
342268
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_16_ASD_discovery_cases
N/A
WGS
Illumina HiSeq
Lumpy, ForestSV
SVtyper, gtCNV
Solid phase hybridization (Illumina 2.5M)
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
huang_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS v.2.1
FISH, qPCR
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)
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
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF
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
sherman_21_ASD_discovery_cases
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
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
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
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
sherman_21_ASD_discovery_controls
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
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
brandler_16_ASD_discovery_cases_caseREACH000001
N/A
M
ASD
Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
36573534
36701731
128198
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseREACH000001
N/A
M
ASD
Case from REACH cohort
36573534
36701731
128198
GRCh38
Deletion
Yes
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)
33620140
33681106
60967
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2294_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34085786
34429797
344012
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3607_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33037776
33677772
639997
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5042_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
32253444
32320291
66848
GRCh38
Duplication
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)
31969986
32067888
97903
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6240_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33071071
33411650
340580
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8630_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33620140
33688001
67862
GRCh38
Deletion
Yes
fitzgerald_14_ASD/DD/ID_discovery_cases-case000021
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S27
N/A
33835852
34055125
219274
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU017604
Autism
32522621
32549939
27319
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU018010
Autism
31333307
31427662
94356
Unknown
Duplication
No
griswold_12_ASD_discovery_cases-case39377
NA
NA
ASD/autism
NA
NA
32773989
33204773
430785
GRCh38
Duplication
Yes
huang_17_ASD_discovery_cases-case1
9 yrs.
M
ASD
Birth/neonatal history: normal delivery, birth weight 3.2 kg. Developmental milestones: social deficits and communication difficulties, stereotyped/repetitive behaviors and interests, and sensory issues noted at 30 months of age; significant motor delay (walking at age of 4 years); delayed speech and language development. Motor and musculoskeletal evaluation: tapering fingers, camptodactyly. Behavioral/psychiatric evaluation: case diagnosed with ASD; behavior characterized by frequent mood swings and difficulties obeying rules. Brain imaging: brain MRI at age of 7 years detected small brain size, focal radial distribution of defects on the front parts of the two frontal lobes, the right side of the Brota area and the left side of the hippocampus. Dysmorphic features: long face, periorbital fullness, smooth philtrum, thin upper lip vermillion. Growth parameters: microcephaly (first noted at age of 30 months). Family history: first child of non-consanguineous parents; healthy younger sister; pregnancies of two male fetuses were terminated due to fetal brain malformations detected by ultrasound and abnormal CMA results (22q12.3 microduplication); no family history of congenital malformations; healthy maternal aunt and healthy maternal grandmother are also carriers of the 22q12.3 microduplication.
33755468
34330819
575352
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001774
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
33380871
33754201
373331
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001813
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
33754145
33786313
32169
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001925
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
33757753
33862859
105107
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001971
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
33757753
33862859
105107
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002135
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
36246060
36313181
67122
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002136
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
36246060
36313181
67122
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002364
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
35753347
36593973
840627
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004528
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32950725
33413352
462628
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004667
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32940883
33084286
143404
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11247.p1
N/A
M
ASD
ASD proband from SSC quad family 11247. SRS score of 87.
Full-scale IQ (FSIQ) score of 128.
36305929
36511786
205858
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case11364.p1
N/A
M
ASD
ASD proband from SSC quad family 11364. SRS score of 72.
Full-scale IQ (FSIQ) score of 106.
35317876
35346972
29097
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12810.p1
N/A
M
ASD
ASD proband from SSC quad family 12810. SRS score of 90.
Full-scale IQ (FSIQ) score of 63.
32149752
32255329
105578
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case14011.p1
N/A
F
ASD
ASD proband from SSC quad family 14011. SRS score of 90.
Full-scale IQ (FSIQ) score of 53.
32392239
32398100
5862
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11247.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
36306413
36512602
206190
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11364.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
35317876
35347209
29334
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12478.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
36201699
36316669
114971
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12810.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32149752
32255329
105578
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13785.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
35546809
35627959
81151
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14011.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32392239
32398100
5862
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14128.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32149752
32360832
211081
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14170.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
32392239
32398100
5862
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11247.p1
NA
M
ASD
NA
NA
36311972
36516143
204172
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown127
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)
36769024
36932868
163845
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-258-1
ASD
32651397
32759587
108191
Unknown
Duplication
No
o'roak_12_ASD_discovery_cases-case12810.p1
NA
M
ASD/Autism
No additional clinical info available.
Low IQ. Non verbal IQ, 58
32109989
32360832
250844
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5042_4
NA
M
ASD
NA
NA
32253444
32320291
66848
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case8630_201
13 yrs.
M
ASD
Autism on ADI-R and ADOS, regression at 16 mo, language delay (first phrases 48 mo); no dysmorphic features, no epilepsy. Family history: both parents unaffected; no siblings; cousin with ASD.
Average IQ (VIQ 80, PIQ 101, FSIQ 89), based on WASI at 13 y
33620140
33688001
67862
GRCh38
Deletion (mosaic)
Yes
prasad_12_ASD_discovery_cases-case100573L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
35503244
35510336
7093
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case100676L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
34771812
34807415
35604
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case146448L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
31853130
32112251
259122
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60560L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
30973228
31050606
77379
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case82503
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
32886534
32908741
22208
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseL879
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
35548787
35575577
26791
Unknown
Duplication
No
qiao_12_ASD_discovery_cases-case10-12A
NA
NA
ASD and/or ID
NA
NA
32810718
33411998
601000
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
36523296
36526158
2863
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11247.p1
5.8
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
36306056
36510126
204071
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11291.p1
4.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 99
33569511
33580012
10502
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11299.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
33063145
33073298
10154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11364.p1
10.1
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
35315105
35352215
37111
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11372.p1
5.7
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
33776601
33807509
30909
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11800.p1
13.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
33700149
33708458
8310
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12150.p1
8.7
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
33063145
33073298
10154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12235.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
31842142
31853853
11712
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
34406578
34410843
4266
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12478.p1
4.8
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
36220089
36316516
96428
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12613.p1
12.6
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 79
33063145
33075551
12407
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12810.p1
10.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 58; verbal IQ, 77
32134269
32307085
172817
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13013.p1
8.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
33798758
33825972
27215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13018.p1
12.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
34161061
34184855
23795
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
31842142
31844474
2333
GRCh38
Deletion
No
sherman_21_ASD_discovery_cases-SPARK_SP0035008
12 yrs.
M
ASD
ASD proband from the SPARK cohort. SCQ summary score: 16. Mosaic cell fraction: 0.3736. CNV occurs on the maternal haplotype.
36094436
37046215
951780
GRCh38
Duplication
No
tzetis_12_DD/ID_discovery_cases-case52
M
DD/ID
Trigonocephaly, microretrognathia, bilateral sensorineural hearing impairment, skeletal abnormalities, myelination defects, and ataxia
36116886
38131679
2014794
GRCh38
Deletion
No
van_der_zwaag_09_ASD_discovery_cases-subject138-003
NA
M
Non-complex autism
NA
NA
31759390
32408541
649150
Unknown
Duplication
Yes
yin_16_ASD_discovery_cases-case626
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
33353290
33695557
342268
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-control10219
N/A
M
Control
Control
32563364
32629194
65831
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB401883_1007874319
N/A
N/A
Control
No previous psychiatric history
33218541
33511978
293438
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB428806_1007853319
N/A
N/A
Control
No previous psychiatric history
36220089
36317486
97398
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB546105_1007840953
N/A
N/A
Control
No previous psychiatric history
31962601
32067888
105288
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB920164_1007874672
N/A
N/A
Control
No previous psychiatric history
33132724
33265778
133055
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB929802_1007851308
N/A
N/A
Control
No previous psychiatric history
35260247
35345870
85624
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB994781_1007855007
N/A
N/A
Control
No previous psychiatric history
33874580
34601087
726508
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
N/A
N/A
Control
No previous psychiatric history
33932752
34032835
100084
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
N/A
N/A
Control
No previous psychiatric history
32614771
32701676
86906
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1532
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
32738182
32745916
7735
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11364.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11364. SRS score of 40.
35317876
35347209
29334
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control14011.s1
N/A
F
Control
Unaffected sibling from SSC quad family 14011. SRS score of 36.
32392239
32398100
5862
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11364.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
35317876
35347209
29334
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12091.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
32043281
32068600
25320
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14011.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
32392239
32398100
5862
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14128.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
32149752
32358444
208693
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11568.s1
NA
F
Control
NA
NA
36000797
36086952
86156
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11074.s1
7.3
M
Control (matched sibling)
NA
NA
33060104
33073298
13195
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11158.s1
11.6
M
Control (matched sibling)
NA
NA
36175331
36178719
3389
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11291.s1
13.6
F
Control (matched sibling)
NA
NA
33567804
33580012
12209
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
33063145
33073298
10154
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11364.s1
8.8
F
Control (matched sibling)
NA
NA
35315105
35342495
27391
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11568.s1
16.7
F
Control (matched sibling)
NA
NA
36000458
36084833
84376
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12056.s1
7.5
M
Control (matched sibling)
NA
NA
33063145
33073298
10154
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
34147521
34153682
6162
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
31842142
31853853
11712
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13018.s1
7.9
M
Control (matched sibling)
NA
NA
34161061
34184855
23795
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13226.s1
10.3
F
Control (matched sibling)
NA
NA
36803903
36856576
52674
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
31842142
31844474
2333
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_16_ASD_discovery_cases_caseREACH000001
Solid phase hybridization (Illumina 2.5M)
De novo
Unknown
Possibly segregated
CACNG2
brandler_18_ASD_discovery_cases-caseREACH000001
SNP VCF
De novo
CACNG2
engchuan_15_ASD_discovery_cases-case20068_1324001
Unknown
LARGE1
engchuan_15_ASD_discovery_cases-case2294_1
Unknown
LINC01643
engchuan_15_ASD_discovery_cases-case3607_3
Unknown
MIR4764,LINC01640,SYN3,LARGE1
engchuan_15_ASD_discovery_cases-case5042_4
Unknown
CPSF1P1,SLC5A4-AS1,SLC5A4
engchuan_15_ASD_discovery_cases-case6053_3
Unknown
LINC02558,RN7SL305P,SLC5A1
engchuan_15_ASD_discovery_cases-case6240_4
Unknown
LINC01640,LARGE1
engchuan_15_ASD_discovery_cases-case8630_201
De novo
LARGE1
fitzgerald_14_ASD/DD/ID_discovery_cases-case000021
De novo
Unknown
Unknown
LINC01643,LARGE1
gai_11_ASD_replication_cases-AU017604
Inherited
LARGE (intronic)
gai_11_ASD_replication_cases-AU018010
Inherited
SYN3 (intronic)
griswold_12_ASD_discovery_cases-case39377
qPCR
Paternal
Simplex
Segregated
TIMP3,LINC01640,SYN3,LARGE1
huang_17_ASD_discovery_cases-case1
FISH, qPCR
Maternal
Multiplex
Unknown (possible gender-specific segregation of CNV with disease)
LINC01643,LARGE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001774
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR4764,SNORA50B,LARGE-IT1,LARGE-AS1,LARGE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001813
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
LARGE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001925
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LARGE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001971
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LARGE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002135
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR6819,APOL1,MYH9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002136
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR6819,APOL1,MYH9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002364
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MTCO1P20,MTCO2P20,MTATP6P20,MTCO3P20,MTND1P10,APOL2,MIR6819,NDUFA9P1,APOL3,APOL4,APOL1,RPS15AP38,TXN2,FOXRED2,EIF3D,RBFOX2,MTCYBP34,MYH9,CACNG2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004528
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01640,SYN3,LARGE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004667
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SYN3
krumm_13_ASD_discovery_cases-case11247.p1
Paternal
Simplex
Segregated
RPS15AP38,TXN2,FOXRED2,EIF3D,MYH9
krumm_13_ASD_discovery_cases-case11364.p1
Maternal
Simplex
Not segregated
MIR3909,MIR6069,TOM1
krumm_13_ASD_discovery_cases-case12810.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Segregated
C22orf42,IGLCOR22-1,RFPL2,SLC5A4-AS1,SLC5A4
krumm_13_ASD_discovery_cases-case14011.p1
Paternal
Simplex
Not segregated
RTCB
krumm_15_ASD_discovery_cases-case11247.p1
Illumina 1M
Paternal
Simplex
Segregated
RPS15AP38,TXN2,FOXRED2,EIF3D,MYH9
krumm_15_ASD_discovery_cases-case11364.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR3909,MIR6069,TOM1
krumm_15_ASD_discovery_cases-case12478.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
APOL2,MIR6819,APOL4,APOL1,MYH9
krumm_15_ASD_discovery_cases-case12810.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
C22orf42,IGLCOR22-1,RFPL2,SLC5A4-AS1,SLC5A4
krumm_15_ASD_discovery_cases-case13785.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RASD2,MB
krumm_15_ASD_discovery_cases-case14011.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RTCB
krumm_15_ASD_discovery_cases-case14128.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
C22orf42,IGLCOR22-1,CPSF1P1,IGLCOR22-2,RFPL2,RFPL3,SLC5A4-AS1,SLC5A4,RFPL3S
krumm_15_ASD_discovery_cases-case14170.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RTCB
levy_11_ASD_discovery_cases-11247.p1
Paternal
Simplex
Segregated
RPS15AP38,TXN2,FOXRED2,EIF3D,MYH9
maini_18_ASD/DD/ID_discovery_cases-case_unknown127
Paternal
Unknown
Unknown
IFT27,PVALB,NCF4-AS1,NCF4,CSF2RB
nord_11_ASD_discovery_cases-258-1
Maternal
0 genes
o'roak_12_ASD_discovery_cases-case12810.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
AP1B1P2,C22orf42,IGLCOR22-1,CPSF1P1,IGLCOR22-2,AP1B1P1,RFPL2,RFPL3,SLC5A1,SLC5A4-AS1,SLC5A4,RFPL3S
pinto_10_ASD_discovery_cases-case5042_4
Agilent1M
maternal
NA
NA
CPSF1P1,SLC5A4-AS1,SLC5A4
pinto_14_ASD_discovery_cases2-case8630_201
qPCR
De novo
Extended multiplex (cousin with ASD)
Possibly segregated (no siblings)
LARGE1
prasad_12_ASD_discovery_cases-case100573L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case100676L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case146448L
Unknown
Unknown
Unknown
LARGE
prasad_12_ASD_discovery_cases-case60560L
Unknown
Unknown
Unknown
SLC5A4
prasad_12_ASD_discovery_cases-case82503
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-caseL879
Unknown
Unknown
Unknown
0 genes
qiao_12_ASD_discovery_cases-case10-12A
QMPSF
Maternal
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11041.p1
Unknown
Simplex (quad-proband matched)
Segregated
EIF3D
sanders_11_ASD_discovery_cases-11247.p1
Paternal
Simplex (quad-proband matched)
Segregated
RPS15AP38,TXN2,FOXRED2,MYH9
sanders_11_ASD_discovery_cases-11291.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LARGE1
sanders_11_ASD_discovery_cases-11299.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11364.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3909,MIR6069,TOM1
sanders_11_ASD_discovery_cases-11372.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LARGE1
sanders_11_ASD_discovery_cases-11800.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
SNORA50B,LARGE1
sanders_11_ASD_discovery_cases-12150.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12235.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DEPDC5
sanders_11_ASD_discovery_cases-12330.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12478.p1
Paternal
Simplex (quad-proband matched)
Not segregated
APOL2,MIR6819,APOL1,MYH9
sanders_11_ASD_discovery_cases-12613.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12810.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C22orf42,IGLCOR22-1,CPSF1P1,RFPL2,SLC5A4-AS1,SLC5A4
sanders_11_ASD_discovery_cases-13013.p1
Paternal
Simplex (trio)
NA
LARGE1
sanders_11_ASD_discovery_cases-13018.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01643
sanders_11_ASD_discovery_cases-13296.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DEPDC5
sherman_21_ASD_discovery_cases-SPARK_SP0035008
CSF2RB,FOXRED2,APOL4,APOL3,TEX33,NCF4,MYH9,MPST,RPS15AP38,MTND1P10,PVALB,MIR6819,TST,MTCO3P20,MTATP6P20,MTCO2P20,MTCO1P20,NCF4-AS1,MTCYBP34,EIF3D,APOL1,CACNG2,IFT27,APOL2,TXN2,CSF2RBP1
tzetis_12_DD/ID_discovery_cases-case52
Unknown
Unknown
MTCO1P20,MTCO2P20,MTATP6P20,MTCO3P20,MTND1P10,APOL2,MIR6819,CSF2RBP1,LL22NC01-81G9.3,RN7SKP214,LGALS2,RN7SL385P,LGALS1,H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,SLC16A8,APOL3,APOL4,APOL1,RPS15AP38,TXN2,FOXRED2,EIF3D,IFT27,PVALB,NCF4-AS1,NCF4,CSF2RB,TEX33,TST,MPST,KCTD17,IL2RB,C1QTNF6,SSTR3,RAC2,CYTH4,MFNG,CARD10,CDC42EP1,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,PICK1,BAIAP2L2,MTCYBP34,MYH9,TMPRSS6,ELFN2,GGA1,EIF3L,POLR2F,PLA2G6,CACNG2,TRIOBP
van_der_zwaag_09_ASD_discovery_cases-subject138-003
qPCR
Paternal
NA
NA
SYN3, LARGE
yin_16_ASD_discovery_cases-case626
Unknown
Unknown
Unknown
MIR4764,LARGE1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10219
Unknown
SYN3
engchuan_15_ASD_discovery_controls-controlB401883_1007874319
Unknown
MIR4764,LARGE1
engchuan_15_ASD_discovery_controls-controlB428806_1007853319
Unknown
APOL2,MIR6819,APOL1,MYH9
engchuan_15_ASD_discovery_controls-controlB546105_1007840953
Unknown
LINC02558,RN7SL305P,SLC5A1
engchuan_15_ASD_discovery_controls-controlB920164_1007874672
Unknown
LARGE1
engchuan_15_ASD_discovery_controls-controlB929802_1007851308
Unknown
MIR3909,MIR6069,TOM1,HMGXB4
engchuan_15_ASD_discovery_controls-controlB994781_1007855007
Unknown
LINC01643,LARGE1
engchuan_15_ASD_discovery_controls-controlHABC_900285_900285
Unknown
LINC01643
engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
Unknown
RNA5SP497,SYN3
kanduri_15_ASD_discovery_controls-control_split1532
Unknown
Intergenic CNV: nearest genes, SLC5A4(dist=86864),RFPL3(dist=4956)
krumm_13_ASD_discovery_controls-control11364.s1
Maternal
Simplex
MIR3909,MIR6069,TOM1
krumm_13_ASD_discovery_controls-control14011.s1
Paternal
Simplex
RTCB
krumm_15_ASD_discovery_controls-control11364.s1
Illumina 1M
Maternal
MIR3909,MIR6069,TOM1
krumm_15_ASD_discovery_controls-control12091.s1
Illumina 1MDuo
Maternal
SLC5A1
krumm_15_ASD_discovery_controls-control14011.s1
Omni2.5-4v1
Paternal
RTCB
krumm_15_ASD_discovery_controls-control14128.s1
Omni2.5-4v1
Paternal
C22orf42,IGLCOR22-1,CPSF1P1,IGLCOR22-2,RFPL2,RFPL3,SLC5A4-AS1,SLC5A4
levy_11_ASD_discovery_controls-11568.s1
Paternal
Simplex
NA
RBFOX2
sanders_11_ASD_discovery_controls-11074.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11158.s1
Both parents
Simplex (quad)
NA
MTCO3P20,MTND1P10,MTCYBP34
sanders_11_ASD_discovery_controls-11291.s1
Paternal
Simplex (quad)
NA
LARGE1
sanders_11_ASD_discovery_controls-11299.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11364.s1
Maternal
Simplex (quad)
NA
MIR3909,MIR6069,TOM1
sanders_11_ASD_discovery_controls-11568.s1
Paternal
Simplex (quad)
NA
RBFOX2
sanders_11_ASD_discovery_controls-12056.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12060.s1
Maternal
Simplex (quad)
NA
LINC01643
sanders_11_ASD_discovery_controls-12235.s1
Unknown
Simplex (quad)
NA
DEPDC5
sanders_11_ASD_discovery_controls-13018.s1
Maternal
Simplex (quad)
NA
LINC01643
sanders_11_ASD_discovery_controls-13226.s1
Maternal
Simplex (quad)
NA
PVALB,NCF4-AS1
sanders_11_ASD_discovery_controls-13296.s1
Paternal
Simplex (quad)
NA
DEPDC5
No Animal Model Data Available