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3p25.3CNV Type: Deletion-Duplication


Largest CNV size: 753586 bp

Statistics Box:
Number of Reports: 19



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 2748
 2
 0
 2
 brand_15_ASD_discovery_cases
 ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
 259
 Diagnosis of ASD
 N/A
 N/A
 36906
 0
 8
 8
 coe_14_ASD/DD/ID_discovery_cases
 Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 29085
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 1500000
 0
 10
 10
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 14578
 1
 0
 1
 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
 171991
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 274000
 0
 1
 1
 gregory_09_ASD_discovery_cases
 Probands from multiplex autism families
 119
 Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
 
 78.15% Male
 753586
 1
 0
 1
 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
 119762
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 574390
 2
 1
 3
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 7446
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 128231
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 272239
 0
 1
 1
 pfundt_16_nonNDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1430
 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
 N/A
 N/A
 966134
 1
 0
 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
 24043
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 6321
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 264762
 5
 21
 26
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 159000
 1
 0
 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)
 
 1900000
 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
 50656
 0
 2
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 coe_14_ASD/DD/ID_discovery_controls
 Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 19584
 Control
 N/A
 N/A
 1500000
 0
 0
 0
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 177050
 1
 3
 4
 gregory_09_ASD_discovery_controls
 Samples from 27 sex-mismatched hybridizations
 54
 Controls
 
 50% Male
 753586
 0
 0
 0
 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
 119762
 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
 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
 3596
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 13139
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 0
 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.
 
 32222
 4
 14
 18
 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
 50656
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 brand_15_ASD_discovery_cases
  N/A
 Long-insert WGS
  Long-insert whole genome sequencing
 LUMPY, cn.MOPS, SV classifier
 
 None
 coe_14_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  N/A
 
 
 None
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 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
 None
 gregory_09_ASD_discovery_cases
 
 aCGH
  BACs aCGH
 BioDiscovery RSA
 Bluefuse, Nexus
 qPCR, microsatellite analysis
 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
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 No
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 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
 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
  coe_14_ASD/DD/ID_discovery_controls
  N/A
  aCGH, solid phase hybridization
  Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
 
 
  None
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  gregory_09_ASD_discovery_controls
 
  aCGH
  BACs aCGH
  BioDiscovery RSA
  Bluefuse, Nexus
 
  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
 
  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
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_replication_cases-case7-0197-003
 N/A
 F
 ASD
 Case from MSSNG cohort
 
 9180773
 9183520
  2748
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseAU4444304
 N/A
 F
 ASD
 Case from MSSNG cohort
 
 9180773
 9183520
  2748
 GRCh38
 Deletion
 No
  brand_15_ASD_discovery_cases-case10
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication previously observed by aCGH (chr3:8825741-8857963; hg19).
 
 8781964
 8818870
  36907
 GRCh38
 Duplication
 No
  brand_15_ASD_discovery_cases-case10
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication not previously observed by aCGH.
 
 8779294
 8779905
  612
 GRCh38
 Duplication
 No
  brand_15_ASD_discovery_cases-case11
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication previously observed by aCGH (chr3:8826396-8857963; hg19).
 
 8781964
 8818870
  36907
 GRCh38
 Duplication
 No
  brand_15_ASD_discovery_cases-case11
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication not previously observed by aCGH.
 
 8779294
 8779905
  612
 GRCh38
 Duplication
 No
  brand_15_ASD_discovery_cases-case12
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication previously observed by aCGH (chr3:8825741-8857963; hg19).
 
 8781964
 8818870
  36907
 GRCh38
 Duplication
 No
  brand_15_ASD_discovery_cases-case12
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication not previously observed by aCGH.
 
 8779294
 8779905
  612
 GRCh38
 Duplication
 No
  brand_15_ASD_discovery_cases-case9
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication previously observed by aCGH (chr3:8825741-8857963; hg19).
 
 8781964
 8818870
  36907
 GRCh38
 Duplication
 No
  brand_15_ASD_discovery_cases-case9
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 3 in this case. Duplication not previously observed by aCGH.
 
 8779294
 8779905
  612
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case600
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 9483316
 10983314
  1499999
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case601
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 9483316
 10983314
  1499999
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case602
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 9483316
 10983314
  1499999
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case603
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 9483316
 10983314
  1499999
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case604
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 9483316
 10983314
  1499999
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case605
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 9483316
 10983314
  1499999
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case606
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 9483316
 10983314
  1499999
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case607
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 9483316
 10983314
  1499999
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case608
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 9483316
 10983314
  1499999
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case609
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 9483316
 10983314
  1499999
 GRCh38
 Duplication
 No
  egger_14_ASD_discovery_cases-caseA116
 N/A
 N/A
 ASD
 CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
 
 11435254
 11449831
  14578
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000031
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S37
 N/A
 9683008
 9854999
  171992
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-11415.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
 11193314
 11473526
  280213
 GRCh38
 Duplication
 No
  gregory_09_ASD_discovery_cases-200309436
 NA
 
 ASD
 NA
 NA
 8215240
 8968829
  753590
 GRCh38
 Deletion
 Yes
  griswold_12_ASD_discovery_cases-case7804
 NA
 NA
 ASD/autism
 NA
 NA
 10806725
 10926486
  119762
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000858
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 9221810
 9727021
  505212
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002439
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 9393349
 9956171
  562823
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003903
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 9654297
 10228687
  574391
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case12851.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12851. SRS score of 90.
 Full-scale IQ (FSIQ) score of 37.
 9825799
 9833245
  7447
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11415.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 11298695
 11426926
  128232
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12851.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 9825799
 9829395
  3597
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11415.p1
 NA
 M
 ASD
 NA
 NA
 11200186
 11472636
  272451
 GRCh38
 Duplication
 No
  pfundt_16_nonNDD_discovery_cases-case84
 N/A
 N/A
 Non-NDD
 Disease cohort: deafness. Description: VHL deletion (ACGM)
 
 9952321
 10918454
  966134
 GRCh38
 Deletion
 No
  pinto_14_ASD_discovery_cases2-case3616_3
 N/A
 M
 ASD
 Autism (autism on both ADI-R and ADOS), language delay (first words 24 mo), verbal. Born at term after normal pregnancy and delivery; no feeding or sleep problems; body length and head circumference during the first year of life were consistently between 0 to 1 SD; walked at 15 months; normal vision and hearing; had sensory-integration training because of over and undersensitivity; asthma and hay fever, no other medical issues, no seizures. Concerns about ADHD-like behavior in childhood, but did not fulfill criteria for ADHD and there are no concerns about hyperactivity at present. At 16 y, normal height and weight (50%ile), no obvious dysmorphic features (in particular, no ptosis, normal ears, no depressed nasal bridge, no long or prominent philtrum, no thin upper lip vermillion), normal fingers and toes. Family history: both parents unaffected; one non-ASD younger brother (not tested).
 Borderline IQ (WISC-III: VIQ 64, PIQ 82, FSIQ 70)
 9457636
 9481678
  24043
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case98HI0240A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU008904; NDAR ID NDAR_INVHG335TK5)
 
 11358416
 11364736
  6321
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11045.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
 8784055
 8816277
  32223
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11073.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 8784055
 8816277
  32223
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11128.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
 8784337
 8816277
  31941
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11262.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 89
 8784055
 8812681
  28627
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11296.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 71
 8784710
 8816277
  31568
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11343.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
 9321588
 9325236
  3649
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11398.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 106; verbal IQ, 77
 8784055
 8816277
  32223
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11415.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
 11203220
 11468194
  264975
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11485.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
 8784055
 8816277
  32223
 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
 10607783
 10624387
  16605
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11550.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 99
 9878722
 9887498
  8777
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11604.p1
 17.2
 F
 Autism
 NA
 Full-scale IQ, 18; non-verbal IQ, 23; verbal IQ 13
 8784055
 8816277
  32223
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11610.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
 8784055
 8812681
  28627
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11676.p1
 7.1
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 8784055
 8829531
  45477
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11909.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
 8784055
 8812681
  28627
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11939.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
 9879932
 9887498
  7567
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12198.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
 10192381
 10197477
  5097
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12335.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
 8784055
 8816277
  32223
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12460.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
 8784055
 8812029
  27975
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12485.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
 8792192
 8816277
  24086
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12575.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 98; verbal IQ, 109
 8784055
 8812029
  27975
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12598.p1
 17.4
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
 8784055
 8812681
  28627
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12618.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 102
 8784055
 8812029
  27975
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12836.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
 8784055
 8812681
  28627
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12955.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 66; verbal IQ, 67
 8792192
 8812681
  20490
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13193.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 8784055
 8816277
  32223
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case25
 11 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies
 
 10109188
 10267893
  158706
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case11
 
 F
 Epilepsy
 Microcephaly, microretrognathia, high frontal and nuchal hairline, triangular face, seizures, retinal dystrophy, hypothyroidism, short stature, behavioral problems
 
 9483188
 11389832
  1906645
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case96
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 10079739
 10100768
  21030
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case97
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 10290380
 10341035
  50656
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB778845_1007854001
  N/A
  N/A
  Control
  No previous psychiatric history
 
  10140878
  10201027
  60150
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900152_900152
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8732443
  8909495
  177053
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900517_900517
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11394939
  11437486
  42548
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901063_901063
  N/A
  N/A
  Control
  No previous psychiatric history
 
  10140878
  10201027
  60150
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control12851.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12851. SRS score of 41.
 
  9825799
  9829395
  3597
  GRCh38
  Duplication
  No (False Positive)
  krumm_15_ASD_discovery_controls-control12901.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  10085811
  10098950
  13140
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11262.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  8784055
  8816277
  32223
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11296.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  8784055
  8816277
  32223
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11348.s1
  9.2
  F
  Control (matched sibling)
  NA
  NA
  8788186
  8816277
  28092
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11378.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  9878722
  9887498
  8777
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11485.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  8784055
  8816277
  32223
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11499.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  10607783
  10618126
  10344
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11550.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  9875970
  9887498
  11529
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11610.s1
  9.4
  M
  Control (matched sibling)
  NA
  NA
  8784055
  8812029
  27975
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11667.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  8784055
  8816277
  32223
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11909.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  8788186
  8816277
  28092
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  10132058
  10133045
  988
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12173.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  8788186
  8816277
  28092
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12335.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  8784055
  8812681
  28627
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12380.s1
  17
  F
  Control (matched sibling)
  NA
  NA
  8784055
  8812029
  27975
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12460.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  8784055
  8812681
  28627
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12575.s1
  18.6
  M
  Control (matched sibling)
  NA
  NA
  8784055
  8812681
  28627
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12618.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  8784055
  8812681
  28627
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12901.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  10084628
  10102086
  17459
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-case7-0197-003
 No validation step reported
 
 Maternal
 
 
 SRGAP3
 
 brandler_18_ASD_replication_cases-caseAU4444304
 No validation step reported
 
 Maternal
 
 
 SRGAP3
 
 brand_15_ASD_discovery_cases-case10
 
 
 Paternal
 Simplex
 Unknown
 CAV3,RAD18
 
 brand_15_ASD_discovery_cases-case10
 
 
 Paternal
 Simplex
 Unknown
 CAV3,RAD18
 
 brand_15_ASD_discovery_cases-case11
 
 
 Paternal
 Simplex
 Unknown
 CAV3,RAD18
 
 brand_15_ASD_discovery_cases-case11
 
 
 Paternal
 Simplex
 Unknown
 CAV3,RAD18
 
 brand_15_ASD_discovery_cases-case12
 
 
 Maternal
 Simplex
 Unknown
 CAV3,RAD18
 
 brand_15_ASD_discovery_cases-case12
 
 
 Maternal
 Simplex
 Unknown
 CAV3,RAD18
 
 brand_15_ASD_discovery_cases-case9
 
 
 Maternal
 Simplex
 Unknown
 CAV3,RAD18
 
 brand_15_ASD_discovery_cases-case9
 
 
 Maternal
 Simplex
 Unknown
 CAV3,RAD18
 
 coe_14_ASD/DD/ID_discovery_cases-case600
 
 
 De novo
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
 
 coe_14_ASD/DD/ID_discovery_cases-case601
 
 
 Inherited
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
 
 coe_14_ASD/DD/ID_discovery_cases-case602
 
 
 Inherited
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
 
 coe_14_ASD/DD/ID_discovery_cases-case603
 
 
 Inherited
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
 
 coe_14_ASD/DD/ID_discovery_cases-case604
 
 
 Unknown
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
 
 coe_14_ASD/DD/ID_discovery_cases-case605
 
 
 Unknown
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
 
 coe_14_ASD/DD/ID_discovery_cases-case606
 
 
 Unknown
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
 
 coe_14_ASD/DD/ID_discovery_cases-case607
 
 
 Unknown
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
 
 coe_14_ASD/DD/ID_discovery_cases-case608
 
 
 Unknown
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
 
 coe_14_ASD/DD/ID_discovery_cases-case609
 
 
 Unknown
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
 
 egger_14_ASD_discovery_cases-caseA116
 
 
 Unknown
 
 Unknown
 ATG7
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000031
 
 
 De novo
 Unknown
 Unknown
 RPUSD3,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,MTMR14,ARPC4-TTLL3,TTLL3
 
 girirajan_13a_ASD_discovery_cases-11415.p1
 
 
 Unknown
 Simplex
 Unknown
 CHCHD4P4,HRH1,ATG7
 
 gregory_09_ASD_discovery_cases-200309436
 qPCR, microsatellite
 
 Maternal
 Multiplex
 Not segregated
 RNU4ATAC17P,OR7E122P,OXTR,LMCD1,SSUH2,CAV3,RAD18,LMCD1-AS1
 
 griswold_12_ASD_discovery_cases-case7804
 qPCR
 
 Paternal
 Multiplex
 Segregated
 SLC6A11
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000858
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PGAM1P4,SRGAP3-AS4,THUMPD3-AS1,THUMPD3,LHFPL4,DUSP5P2,CPNE9,SRGAP3,MTMR14,SETD5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002439
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,THUMPD3-AS1,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,MTMR14,ARPC4-TTLL3,TTLL3,SETD5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003903
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2
 
 krumm_13_ASD_discovery_cases-case12851.p1
 
 
 Maternal
 Simplex
 Not segregated
 ARPC4-TTLL3,TTLL3
 
 krumm_15_ASD_discovery_cases-case11415.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 ATG7
 
 krumm_15_ASD_discovery_cases-case12851.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ARPC4-TTLL3,TTLL3
 
 levy_11_ASD_discovery_cases-11415.p1
 
 
 Paternal
 Simplex
 Segregated
 CHCHD4P4,HRH1,ATG7
 
 pfundt_16_nonNDD_discovery_cases-case84
 
 
 
 
 
 PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,FANCD2,FANCD2OS,IRAK2,SLC6A11,ATP2B2
 
 pinto_14_ASD_discovery_cases2-case3616_3
 qPCR
 
 De novo
 Unknown
 Likely segregated (1 non-ASD brother, not tested)
 SETD5
 
 poultney_13_ASD_discovery_cases-case98HI0240A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ATG7
 
 sanders_11_ASD_discovery_cases-11045.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-11073.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-11128.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-11262.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-11296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-11343.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SRGAP3
 
 sanders_11_ASD_discovery_cases-11398.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-11415.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CHCHD4P4,HRH1,ATG7
 
 sanders_11_ASD_discovery_cases-11485.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ATP2B2
 
 sanders_11_ASD_discovery_cases-11550.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 CIDEC
 
 sanders_11_ASD_discovery_cases-11604.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-11610.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-11676.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-11909.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-11939.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 CIDEC
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 IRAK2
 
 sanders_11_ASD_discovery_cases-12335.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-12460.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-12485.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-12575.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-12598.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-12618.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-12836.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-12955.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sanders_11_ASD_discovery_cases-13193.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CAV3,RAD18
 
 sansovic_17_DD/ID/ASD_discovery_cases-case25
 
 
 Unknown
 
 
 BRK1,VHL,TATDN2,IRAK2
 
 tzetis_12_DD/ID_discovery_cases-case11
 
 
 De novo
 Unknown
 
 RPUSD3,JAGN1,RNU6-882P,PRRT3,PRRT3-AS1,CYCSP10,RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,CHCHD4P4,LHFPL4,DUSP5P2,CPNE9,BRPF1,OGG1,CAMK1,TADA3,ARPC4,CIDEC,IL17RE,IL17RC,CRELD1,EMC3,EMC3-AS1,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,MTMR14,ARPC4-TTLL3,TTLL3,FANCD2,FANCD2OS,IRAK2,SLC6A11,SLC6A1,SLC6A1-AS1,HRH1,ATP2B2,ATG7
 
 yin_16_ASD_discovery_cases-case96
 
 
 Unknown
 Unknown
 Unknown
 FANCD2,FANCD2OS
 
 yin_16_ASD_discovery_cases-case97
 
 
 Unknown
 Unknown
 Unknown
 MIR378B,GHRL,GHRLOS,SEC13,ATP2B2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB778845_1007854001
 
 
  Unknown
 
 
  VHL,IRAK2
 
engchuan_15_ASD_discovery_controls-controlHABC_900152_900152
 
 
  Unknown
 
 
  OXTR,SSUH2,CAV3,RAD18
 
engchuan_15_ASD_discovery_controls-controlHABC_900517_900517
 
 
  Unknown
 
 
  ATG7
 
engchuan_15_ASD_discovery_controls-controlHABC_901063_901063
 
 
  Unknown
 
 
  VHL,IRAK2
 
krumm_13_ASD_discovery_controls-control12851.s1
  Solid phase hybridization (Illumina 1M) (not tested by aCGH)
 
  Maternal
  Simplex
 
  ARPC4-TTLL3,TTLL3
 
krumm_15_ASD_discovery_controls-control12901.s1
  Illumina 1MDuo
 
  Maternal
 
 
  FANCD2,FANCD2OS
 
sanders_11_ASD_discovery_controls-11262.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-11296.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-11348.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-11378.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CIDEC
 
sanders_11_ASD_discovery_controls-11485.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-11499.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ATP2B2
 
sanders_11_ASD_discovery_controls-11550.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CIDEC
 
sanders_11_ASD_discovery_controls-11610.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-11667.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-11909.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12173.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-12335.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-12380.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-12460.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-12575.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-12618.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CAV3,RAD18
 
sanders_11_ASD_discovery_controls-12901.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FANCD2,FANCD2OS
 

No Animal Model Data Available
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