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22q12.1CNV Type: Deletion-Duplication


Largest CNV size: 45603 bp

Statistics Box:
Number of Reports: 10



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

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
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 10789
 1
 0
 1
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 437813
 3
 0
 3
 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
 1430398
 0
 1
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 3037
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 24289
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 12338
 0
 1
 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)
 7895
 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
 259303
 3
 3
 6
 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
 45603
 6
 0
 6
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 9671
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 62678
 1
 4
 5
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 437813
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 370415
 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
 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
 12748
 0
 1
 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
 3037
 1
 0
 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
 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)
 259303
 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.
 
 57496
 6
 1
 7
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 9671
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 aCGH (Agilent 244K)
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  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
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  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
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None

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_discovery_cases-caseSSC06324
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 28908661
 28919450
  10790
 GRCh38
 Deletion
 Yes
  girirajan_11_ASD_discovery_cases-Si295
 19
 F
 Autism
 ADOS score: NA. Vineland composite score: 69.
 No mental retardation/intellectual disability. Full-scale IQ, 123; Verbal IQ, 140; Non-verbal IQ, 109.
 28299129
 28602229
  303101
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si297
 7
 M
 Autism
 ADOS score: 8. Vineland composite score: 74.
 Mild mental retardation/intellectual disability. Full-scale IQ, 69; Verbal IQ, 79; Non-verbal IQ, 62.
 28299129
 28635992
  336864
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si300
 8
 M
 Autism
 ADOS score: 5. Vineland composite score: 86.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 114; Non-verbal IQ, 103.
 28198179
 28635992
  437814
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002478
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 27557778
 28988149
  1430372
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12498.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12498. SRS score of 90.
 Full-scale IQ (FSIQ) score of 65.
 28696900
 28699937
  3038
 GRCh38
 Deletion
 No (not tested)
  levy_11_ASD_discovery_cases-11723.p1
 NA
 M
 ASD
 NA
 NA
 28191077
 28215365
  24289
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5453_4
 NA
 M
 Autism
 Lowfunctioning autism, language delay, no epilepsy, no dysmorphic features
 Unable to complete IQ measure
 25718110
 25730447
  12338
 Unknown
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case05HI3871A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1335302; NDAR ID NDAR_INVPL565TZ9)
 
 26622595
 26630489
  7895
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case120040
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 27489319
 27748621
  259303
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case161584L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 24636277
 24646475
  10199
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case59269L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 26923256
 27148315
  225060
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case68388
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 26039589
 26048022
  8434
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case72816L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 24624366
 24649985
  25620
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case83989
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 25716302
 25730514
  14213
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11111.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ 100
 28197494
 28208595
  11102
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11723.p1
 6.9
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
 28197494
 28208595
  11102
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12257.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 109; non-verbal IQ, 109; verbal IQ, 106
 28357845
 28403448
  45604
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12323.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
 27514798
 27517426
  2629
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12681.p1
 6.5
 F
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 65; verbal IQ, 69
 26098548
 26109252
  10705
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13006.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 56; verbal IQ, 57
 26987177
 26994514
  7338
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case3-0208-000
 N/A
 M
 ASD
 N/A
 N/A
 29006551
 29016221
  9671
 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-control110036024719_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28323668
  28361962
  38295
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB471933_1007872688
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28662421
  28725099
  62679
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB953582_1007843997
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28286628
  28332356
  45729
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900540_900540
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28580145
  28625016
  44872
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900623_900623
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28197494
  28239685
  42192
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-38308110558
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  28299129
  28669544
  370416
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split963
  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
 
  26268463
  26281210
  12748
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control12498.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12498. SRS score of 38.
 
  28696900
  28699937
  3038
  GRCh38
  Deletion
  No (not tested)
  sanders_11_ASD_discovery_controls-11445.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  28197494
  28208595
  11102
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11711.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  28197494
  28208595
  11102
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12257.s1
  4.6
  M
  Control (matched sibling)
  NA
  NA
  28357845
  28415341
  57497
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12323.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  27514798
  27517426
  2629
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12656.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  26987177
  26994514
  7338
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12681.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  26098548
  26109252
  10705
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13120.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  28197494
  28208595
  11102
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseSSC06324
 PCR or SNP data validation
 
 Paternal
 
 
 ZNRF3
 
 girirajan_11_ASD_discovery_cases-Si295
 
 
 Unknown
 Simplex
 
 MIR5739,TTC28
 
 girirajan_11_ASD_discovery_cases-Si297
 
 
 Unknown
 Simplex
 
 MIR5739,TTC28
 
 girirajan_11_ASD_discovery_cases-Si300
 
 
 Unknown
 Simplex
 
 MIR5739,TTC28
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002478
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR3199-1,MIR3199-2,RN7SL757P,MIR5739,RN7SL162P,XBP1,TTC28-AS1,HSCB,CCDC117,MN1,PITPNB,CHEK2,ZNRF3,TTC28
 
 krumm_13_ASD_discovery_cases-case12498.p1
 
 
 Maternal
 Simplex
 Not segregated
 CHEK2
 
 levy_11_ASD_discovery_cases-11723.p1
 aCGH (Agilent 244K)
 
 De novo
 Simplex
 Segregated
 TTC28
 
 pinto_10_ASD_discovery_cases-case5453_4
 qPCR
 
 maternal
 Simplex
 NA
 0 genes
 
 poultney_13_ASD_discovery_cases-case05HI3871A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CRYBA4
 
 prasad_12_ASD_discovery_cases-case120040
 
 
 Unknown
 Unknown
 Unknown
 CCDC117,ZNRF3,XBP1
 
 prasad_12_ASD_discovery_cases-case161584L
 
 
 Unknown
 Unknown
 Unknown
 MIR1302-1,MYO18B
 
 prasad_12_ASD_discovery_cases-case59269L
 
 
 Unknown
 Unknown
 Unknown
 TTC28
 
 prasad_12_ASD_discovery_cases-case68388
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case72816L
 
 
 Unknown
 Multiplex
 Unknown
 MIR1302-1,MYO18B
 
 prasad_12_ASD_discovery_cases-case83989
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11111.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TTC28
 
 sanders_11_ASD_discovery_cases-11723.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 TTC28
 
 sanders_11_ASD_discovery_cases-12257.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TTC28
 
 sanders_11_ASD_discovery_cases-12323.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12681.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13006.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 walker_13_ASD_discovery_cases-case3-0208-000
 
 
 Unknown
 Simplex
 Unknown
 ZNRF3-IT1,ZNRF3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036024719_
 
 
  Unknown
 
 
  TTC28
 
engchuan_15_ASD_discovery_controls-controlB471933_1007872688
 
 
  Unknown
 
 
  CHEK2,TTC28
 
engchuan_15_ASD_discovery_controls-controlB953582_1007843997
 
 
  Unknown
 
 
  TTC28
 
engchuan_15_ASD_discovery_controls-controlHABC_900540_900540
 
 
  Unknown
 
 
  TTC28
 
engchuan_15_ASD_discovery_controls-controlHABC_900623_900623
 
 
  Unknown
 
 
  TTC28
 
girirajan_13b_ASD_discovery_controls-38308110558
 
 
  Unknown
 
 
  MIR5739,RN7SL162P,TTC28
 
kanduri_15_ASD_discovery_controls-control_split963
 
 
  Unknown
 
 
  MYO18B
 
krumm_13_ASD_discovery_controls-control12498.s1
 
 
  Maternal
  Simplex
 
  CHEK2
 
sanders_11_ASD_discovery_controls-11445.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TTC28
 
sanders_11_ASD_discovery_controls-11711.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TTC28
 
sanders_11_ASD_discovery_controls-12257.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TTC28
 
sanders_11_ASD_discovery_controls-12323.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12656.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12681.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13120.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TTC28
 

No Animal Model Data Available
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