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13q33.1CNV Type: Deletion-Duplication


Largest CNV size: 259990 bp

Statistics Box:
Number of Reports: 8



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
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
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 deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 
 
 259990
 1
 2
 3
 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
 16017
 6
 3
 9
 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
 1116289
 1
 2
 3
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 10860
 0
 1
 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
 1429367
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 244048
 1
 1
 2
 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
 956066
 2
 3
 5
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 3316
 0
 3
 3

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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.
 
 15331
 1
 0
 1
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 38025
 6
 1
 7
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 43196
 1
 0
 1
 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
 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
 1429367
 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)
 244048
 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)
 78107
 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
 622262
 1
 2
 3
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 462854
 2
 0
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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), and/or array SNP (Affy 500K)
 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 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, and/or solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, and/or Agilent 1M
 
 
 None
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip or 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
  aCGH (Agilent 244K)
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip or 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH (PDx controls)
  Agilent 1M (PDx controls)
  PDx controls: ADM-2, DNAcopy (R Bioconductor)
  PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  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
  pinto_10_ASD_discovery_cases-case5115_3
 NA
 M
 ASD
 NA
 NA
 102589961
 102665105
  75145
 
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5115_3
 NA
 M
 ASD
 NA
 NA
 102227481
 102487470
  259990
 
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5419_3
 NA
 M
 Autism
 No epilepsy; long, wide palpebral fissures, wide mouth, protruding ears, no other dysmorphic features
 Unknown
 101522771
 101598235
  75465
 
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11063.p1
 9
 M
 Aspergers
 NA
 Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
 102487470
 102497214
  9744
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11080.p1
 5
 F
 ASD
 NA
 Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
 102732075
 102735921
  3846
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11707.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
 102487470
 102496631
  9161
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11969.p1
 14
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
 101915197
 101921393
  6196
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11989.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
 102483067
 102497214
  14147
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12033.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
 103075180
 103076281
  1101
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12395.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
 101967357
 101982789
  15432
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12961.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
 103114292
 103130309
  16017
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13337.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
 101915197
 101921393
  6196
 hg18
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002720
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 100838094
 101086542
  248448
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002069
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 101966982
 102312359
  345377
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002508
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 102272432
 103388721
  1116289
 NCBI36
 Duplication
 Yes
  vaags_11_ASD_discovery_cases-probandF1-003
 16 yrs. 7 mos.
 M
 Asperger syndrome
 Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
 Leiter-R IQ: 119 (92nd %ile)
 102690014
 102700873
  10860
 hg18
 Duplication
 No
  griswold_12_ASD_discovery_cases-case3524
 NA
 NA
 ASD/autism
 NA
 NA
 103545187
 104974554
  1429367
 hg18
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case96280L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 101524562
 101598773
  74212
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-caseMM0234-5
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 102224958
 102469005
  244048
 
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14145_2430
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 103312824
 103416945
  104121
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4193_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101982640
 102938706
  956066
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5115_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 102227481
 102487470
  259989
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5115_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 102589961
 102665105
  75144
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5419_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101522771
 101598235
  75464
 hg18
 Deletion
 No
  krumm_15_ASD_discovery_cases-case11989.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 103698482
 103701796
  3314
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13058.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 103698482
 103701798
  3316
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13888.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 103698482
 103701798
  3316
 hg19
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  nord_11_ASD_discovery_controls-04C27862
 
 
  Control
 
 
  102824568
  102839898
  15331
 
  Deletion
 
  sanders_11_ASD_discovery_controls-11472.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  101036745
  101074770
  38025
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11484.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  101915197
  101923583
  8386
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11969.s1
  17
  M
  Control (matched sibling)
  NA
  NA
  101915197
  101921393
  6196
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11989.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  102483067
  102497214
  14147
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12083.s1
  5
  F
  Control (matched sibling)
  NA
  NA
  103114292
  103130309
  16017
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12372.s1
  13
  F
  Control (matched sibling)
  NA
  NA
  103114292
  103134928
  20636
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12657.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  103114292
  103130309
  16017
  hg18
  Deletion
  No
  levy_11_ASD_discovery_controls-11472.s1
  NA
  F
  Control
  NA
  NA
  101034390
  101077585
  43196
  hg18
  Deletion
  Yes
  poultney_13_ASD_discovery_controls-control04C29638A
  N/A
  M
  Control
  NIMH Control (NIMH ID 45390)
 
  103268744
  103346850
  78107
  hg19
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB823925_0067942577
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101210075
  101279382
  69307
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB566863_1007875835
  N/A
  N/A
  Control
  No previous psychiatric history
 
  102725899
  103348161
  622262
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036014751_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  103054061
  103381476
  327415
  hg18
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1883
  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
 
  103347428
  103354056
  6629
  N/A
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split860
  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
 
  103400083
  103862936
  462854
  N/A
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 pinto_10_ASD_discovery_cases-case5115_3
 Agilent1M
 
 paternal
 NA
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case5115_3
 Agilent1M
 
 paternal
 NA
 NA
 BIVM,KDELC1,SLC10A2,ERCC5,C13orf27
 
 pinto_10_ASD_discovery_cases-case5419_3
 Agilent1M-Paternal
 
 paternal
 Simplex
 NA
 FGF14
 
 sanders_11_ASD_discovery_cases-11063.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 SLC10A2
 
 sanders_11_ASD_discovery_cases-11080.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11707.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 SLC10A2
 
 sanders_11_ASD_discovery_cases-11969.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11989.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC10A2
 
 sanders_11_ASD_discovery_cases-12033.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12395.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12961.p1
 
 
 Unknown
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-13337.p1
 
 
 Unknown
 Simplex (trio)
 NA
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002720
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 NALCN,ITGBL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002069
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 TPP2,METTL21C,CCDC168,TEX30,KDELC1,BIVM,BIVM-ERCC5,ERCC5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002508
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 BIVM,BIVM-ERCC5,ERCC5,SLC10A2
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 griswold_12_ASD_discovery_cases-case3524
 qPCR
 
 Paternal
 Multiplex
 Not segregated
 DAOA
 
 prasad_12_ASD_discovery_cases-case96280L
 
 
 Unknown
 Unknown
 Unknown
 FGF14
 
 prasad_12_ASD_discovery_cases-caseMM0234-5
 
 
 Unknown
 Unknown
 Unknown
 KDELC1,BIVM,ERCC5,LOC121952,BIVM-ERCC5
 
 engchuan_15_ASD_discovery_cases-case14145_2430
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case4193_1
 
 
 Unknown
 
 
 BIVM;BIVM-ERCC5;C13orf27;C13orf40;ERCC5;KDELC1;LOC121952;METTL21C;SLC10A2;TPP2
 
 engchuan_15_ASD_discovery_cases-case5115_3
 
 
 Unknown
 
 
 BIVM;BIVM-ERCC5;ERCC5;KDELC1;LOC121952
 
 engchuan_15_ASD_discovery_cases-case5115_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case5419_3
 
 
 Unknown
 
 
 FGF14
 
 krumm_15_ASD_discovery_cases-case11989.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SLC10A2,Exon (6/6),Intron (5/5),Exon (5/6)
 
 krumm_15_ASD_discovery_cases-case13058.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SLC10A2,Exon (6/6),Intron (5/5),Exon (5/6)
 
 krumm_15_ASD_discovery_cases-case13888.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SLC10A2,Exon (6/6),Intron (5/5),Exon (5/6)
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_controls-04C27862
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11472.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ITGBL1
 
sanders_11_ASD_discovery_controls-11484.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11969.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11989.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC10A2
 
sanders_11_ASD_discovery_controls-12083.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12372.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12657.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
levy_11_ASD_discovery_controls-11472.s1
  aCGH (Agilent 244K)
 
  De novo
  Simplex
  NA
  ITGBL1
 
poultney_13_ASD_discovery_controls-control04C29638A
 
 
  Unknown
 
 
  TPP2,METTL21C
 
engchuan_15_ASD_discovery_controls-controlB823925_0067942577
 
 
  Unknown
 
 
  FGF14
 
engchuan_15_ASD_discovery_controls-controlB566863_1007875835
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-control110036014751_
 
 
  Unknown
 
 
  0 genes
 
kanduri_15_ASD_discovery_controls-control_split1883
 
 
  Unknown
 
 
  METTL21C (upstream of gene)
 
kanduri_15_ASD_discovery_controls-control_split860
 
 
  Unknown
 
 
  BIVM,BIVM-ERCC5,CCDC168,ERCC5,KDELC1,SLC10A2,TEX30
 

No Animal Model Data Available
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