HELP     Sign In

1q22CNV Type: Deletion-Duplication


Largest CNV size: 107915 bp

Statistics Box:
Number of Reports: 11



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion
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-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
NA
Duplication

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
 18138
 2
 0
 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
 140233
 1
 2
 3
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 75382
 0
 1
 1
 han_22_ASD/DD/ID_discovery_cases
  NA NA
 Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
 410
 151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
 Mean age, 2 yrs. 11 mos.
 68.78% Male
 204565
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 602286
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 78595
 2
 0
 2
 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
 137171
 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
 16947
 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
 107915
 5
 9
 14
 sheth_23_ASD_discovery_cases
 Population-based cohort of patient-parent trios with ASD from India.
 101
 Cases diagnosed with ASD based on DSM-5 criteria.
 Average age at diagnosis: 5 +/- 3 yrs.
 71.29% Male
 525130
 0
 1
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 35572
 1
 0
 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
 38454
 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
 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
 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)
 16947
 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.
 
 23544
 2
 7
 9

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
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 han_22_ASD/DD/ID_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix SNP 6.0, Affymetrix CytoScan HD
 
 
 
 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_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 
 sheth_23_ASD_discovery_cases
  India
 CMA
  Affymetrix CytoScan Optima/GeneChip 3000
 NA
 Thermo Fisher ChAS
 qPCR, WES
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

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-caseREACH000589
 N/A
 M
 ASD
 Case from REACH cohort
 
 155818301
 155836439
  18139
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseREACH000592
 N/A
 F
 Anxiety
 Case from REACH cohort
 
 155818301
 155836439
  18139
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case4158_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 155188080
 155261107
  73028
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4549_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 155502655
 155606351
  103697
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6336_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 155616266
 155756499
  140234
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case578-3
 N/A
 F
 ASD
 ASD; no other clinical information provided
 N/A
 155957606
 156032988
  75383
 GRCh38
 Duplication
 No
  han_22_ASD/DD/ID_discovery_cases-case15D3844
  NA NA
 2 yrs. 3 mos.
 M
 Developmental delay
 
 
 155454273
 155658837
  204565
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001111
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155182457
 155787428
  604972
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12194.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 155659656
 155738251
  78596
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14187.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 156369249
 156378399
  9151
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case6336_4
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 155619329
 155756499
  137171
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case71182
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 153735961
 153752907
  16947
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11098.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
 155216160
 155234219
  18060
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11124.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
 155225189
 155233269
  8081
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11158.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
 155216160
 155234219
  18060
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11164.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 107; verbal IQ, 89
 155225189
 155233269
  8081
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11220.p1
 12.1
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
 155578329
 155588874
  10546
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11505.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
 155216160
 155236376
  20217
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 155216160
 155234219
  18060
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11568.p1
 13.5
 F
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
 155216160
 155234219
  18060
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12050.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
 155216160
 155234219
  18060
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12189.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
 155216160
 155234219
  18060
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12194.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
 155635944
 155743859
  107916
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 155216160
 155233269
  17110
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12565.p1
 10.6
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 155216160
 155236550
  20391
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13304.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
 155899193
 155905567
  6375
 GRCh38
 Deletion
 No
  sheth_23_ASD_discovery_cases-caseASD-050
 3 yrs.
 M
 ASD, developmental delay, and intellectual disability
 Case diagnosed with ASD based on DSM-5 criteria (severe severity classification for both social communication, moderate severity for restrictive and repetitive behavior). Additional clinical information: developmental delay, speech delay, developmental regression, subtle dysmorphic facial features (flat occiput, round nasal tip, bulging forehead, broad nasal bridge), abnormal gait (broad-based gait), repetitive movements, self-injurious behavior, echolalia.
 Intellectual disability
 155476840
 156001969
  525130
 GRCh38
 Duplication
 Yes
  yuen_17_ASD_discovery_cases-caseAU4398301
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 155460210
 155495782
  35573
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlHABC_900571_900571
  N/A
  N/A
  Control
  No previous psychiatric history
 
  155195765
  155234219
  38455
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11038.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  155225189
  155233269
  8081
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  155216160
  155234219
  18060
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11164.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  155225189
  155234219
  9031
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  155225189
  155234219
  9031
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11421.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  155216160
  155234219
  18060
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11505.s1
  9.9
  F
  Control (matched sibling)
  NA
  NA
  155210675
  155234219
  23545
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  155216160
  155234219
  18060
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12041.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  155216160
  155234219
  18060
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12565.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  155216160
  155233269
  17110
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseREACH000589
 PCR or SNP data validation
 
 Maternal
 
 
 GON4L
 
 brandler_18_ASD_discovery_cases-caseREACH000592
 PCR or SNP data validation
 
 Maternal
 
 
 GON4L
 
 engchuan_15_ASD_discovery_cases-case4158_1
 
 
 Unknown
 
 
 MIR92B,MTX1,MTX1P1,SCAMP3,THBS3,GBAP1,GBA,FAM189B,MUC1
 
 engchuan_15_ASD_discovery_cases-case4549_1
 
 
 Unknown
 
 
 ASH1L-AS1,DAP3P1,ASH1L
 
 engchuan_15_ASD_discovery_cases-case6336_4
 
 
 Unknown
 
 
 YY1AP1,MSTO2P,DAP3,GON4L
 
 gazzellone_14_ASD_discovery_cases-case578-3
 
 
 Unknown
 Unknown
 Unknown
 SSR2,ARHGEF2
 
 han_22_ASD/DD/ID_discovery_cases-case15D3844
 
 
 Unknown
 
 
 MSTO1,ASH1L,DAP3P1,ASH1L-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001111
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 TRIM46,MIR92B,MTX1,MTX1P1,SCAMP3,PKLR,RUSC1,MIR555,RNU6-106P,ASH1L-IT1,RNU6-1297P,POU5F1P4,ASH1L-AS1,MSTO1,THBS3,GBAP1,GBA,FAM189B,CLK2,HCN3,DAP3P1,YY1AP1,MSTO2P,FDPS,RUSC1-AS1,ASH1L,DAP3,GON4L,MUC1
 
 krumm_15_ASD_discovery_cases-case12194.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 YY1AP1,DAP3
 
 krumm_15_ASD_discovery_cases-case14187.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 RHBG
 
 pinto_14_ASD_discovery_cases2-case6336_4
 qPCR
 
 Maternal
 Simplex
 Unknown (1 healthy sister, no DNA)
 YY1AP1,MSTO2P,DAP3,GON4L
 
 prasad_12_ASD_discovery_cases-case71182
 
 
 Unknown
 Unknown
 Unknown
 ASH1L
 
 sanders_11_ASD_discovery_cases-11098.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTX1P1,GBAP1
 
 sanders_11_ASD_discovery_cases-11124.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 MTX1P1,GBAP1
 
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTX1P1,GBAP1
 
 sanders_11_ASD_discovery_cases-11164.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTX1P1,GBAP1
 
 sanders_11_ASD_discovery_cases-11220.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DAP3P1
 
 sanders_11_ASD_discovery_cases-11505.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTX1P1,GBAP1,GBA
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 MTX1P1,GBAP1
 
 sanders_11_ASD_discovery_cases-11568.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTX1P1,GBAP1
 
 sanders_11_ASD_discovery_cases-12050.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MTX1P1,GBAP1
 
 sanders_11_ASD_discovery_cases-12189.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTX1P1,GBAP1
 
 sanders_11_ASD_discovery_cases-12194.p1
 
 
 Maternal
 Simplex (trio)
 NA
 YY1AP1,DAP3
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MTX1P1,GBAP1
 
 sanders_11_ASD_discovery_cases-12565.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MTX1P1,GBAP1,GBA
 
 sanders_11_ASD_discovery_cases-13304.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 RIT1
 
 sheth_23_ASD_discovery_cases-caseASD-050
 qPCR, WES
 
 De novo
 Simplex
 Segregated
 YY1AP1,GON4L,MSTO1,ASH1L,RXFP4,DAP3P1,ASH1L-AS1,SNORA80E,SCARNA4,MSTO2P,RIT1,MIR6738,ARHGEF2-AS1,ARHGEF2-AS2,DAP3,ARHGEF2,KHDC4,SYT11
 
 yuen_17_ASD_discovery_cases-caseAU4398301
 Not available
 
 Unknown
 Simplex
 Unknown
 ASH1L
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900571_900571
 
 
  Unknown
 
 
  MTX1,MTX1P1,THBS3,GBAP1
 
sanders_11_ASD_discovery_controls-11038.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTX1P1,GBAP1
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTX1P1,GBAP1
 
sanders_11_ASD_discovery_controls-11164.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTX1P1,GBAP1
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTX1P1,GBAP1
 
sanders_11_ASD_discovery_controls-11421.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTX1P1,GBAP1
 
sanders_11_ASD_discovery_controls-11505.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTX1,MTX1P1,GBAP1
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTX1P1,GBAP1
 
sanders_11_ASD_discovery_controls-12041.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MTX1P1,GBAP1
 
sanders_11_ASD_discovery_controls-12565.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTX1P1,GBAP1
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.