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12q14.2CNV Type: Deletion-Duplication


Largest CNV size: 993000 bp

Statistics Box:
Number of Reports: 7


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
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Duplication
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
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 annunziata_21_ASD_discovery_cases
  NA NA
 Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
 209
 Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
 Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
 80.86% Male
 470507
 0
 1
 1
 cucinotta_23_ASD_discovery_cases
  NA NA
 Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
 329
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 NA
 84.19% Male
 360815
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 876074
 0
 3
 3
 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)
 429565
 0
 2
 2
 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
 11007
 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
 208320
 8
 22
 30
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 993000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_20_ASD_discovery_controls
  NA NA
 Anonymized DNA samples from Italian individuals with no psychiatric disorders
 365
 Control
 N/A
 54.52% Male
 37869
 1
 0
 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
 109781
 1
 0
 1
 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
 129735
 0
 1
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 12998
 1
 0
 1
 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)
 11007
 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.
 
 216683
 6
 9
 15

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 annunziata_21_ASD_discovery_cases
  Italy
 aCGH
  BlueGnome ISCA180K (Agilent)
 
 BlueGnome Bluefuse
 qPCR, FISH
 cucinotta_23_ASD_discovery_cases
  Italy
 aCGH
  Agilent SurePrint 4180K
 ADM-2
 Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 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
 
 
 shen_10_ASD_discovery_cases
 
 aCGH, array SNP
  Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
 BRLMM, CNAT4, Partek Genomic Suite
 CGH Analytics, DNA Analytics software
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  bacchelli_20_ASD_discovery_controls
  Italian
  Solid phase hybridization
  Illumina Infinium PsychArray
  PennCNV, QuantiSNP, CNVPartition
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  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
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  annunziata_21_ASD_discovery_cases-caseIB253
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD; no additional clinical information available.
 Cognitive profile NA
 63124706
 63595212
  470507
 GRCh38
 Duplication
 Yes
  cucinotta_23_ASD_discovery_cases-case373
  NA NA
 NA
 NA
 ASD
 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
 
 63134554
 63495368
  360815
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3126_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63440335
 63538099
  97765
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4176_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 63441455
 63513112
  71658
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4296_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62940462
 63816536
  876075
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case03HI2580A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
 
 63560510
 63990074
  429565
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1144B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
 
 64497966
 64729059
  231094
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case107778
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 62638591
 62649597
  11007
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11039.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29
 63545960
 63735328
  189369
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11160.p1
 6.9
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
 63545960
 63735328
  189369
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11208.p1
 14.4
 F
 Autism
 NA
 Full-scale IQ, 141; non-verbal IQ, 128; verbal IQ, 149
 63538099
 63735328
  197230
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11255.p1
 12.7
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 108; verbal IQ 130
 63545960
 63725405
  179446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11264.p1
 10.7
 F
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 88; verbal IQ 80
 63538099
 63725405
  187307
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11410.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40
 63538099
 63735328
  197230
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11412.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 119; verbal IQ, 85
 63553914
 63735328
  181415
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11437.p1
 16.6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
 64478928
 64498356
  19429
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11441.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 119; verbal IQ, 126
 63568073
 63735328
  167256
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11811.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
 63545960
 63725405
  179446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11995.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
 63538099
 63725405
  187307
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12215.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 113; verbal IQ, 96
 63545960
 63725405
  179446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12238.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ, 84
 63545960
 63725405
  179446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12345.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
 63957126
 63968939
  11814
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12350.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
 63545960
 63725405
  179446
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12368.p1
 10.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 50; verbal IQ, 40
 63545960
 63725405
  179446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12383.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 88; verbal IQ, 90
 64506333
 64512488
  6156
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12454.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
 63663484
 63725405
  61922
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12454.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
 63545960
 63625572
  79613
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12465.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
 63422613
 63501542
  78930
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12481.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
 63545960
 63725405
  179446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12518.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 83
 63549216
 63725405
  176190
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12521.p1
 7.2
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
 63545960
 63725405
  179446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12587.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
 63545960
 63725405
  179446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12594.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 63545960
 63725405
  179446
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12598.p1
 17.4
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
 63538099
 63725405
  187307
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12964.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
 63538099
 63746419
  208321
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13095.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
 63545960
 63725405
  179446
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13144.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 119; verbal IQ, 95
 63545960
 63725405
  179446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 63545960
 63725405
  179446
 GRCh38
 Duplication
 No
  shen_10_ASD_discovery_cases-ASD-09-053
 NA
 M
 ASD
 NA
 NA
 63134614
 64127609
  992996
 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
  bacchelli_20_ASD_discovery_controls-control20110
  N/A
  M
  Control
  Control
 
  63147420
  63185288
  37869
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902862_902862
  N/A
  N/A
  Control
  No previous psychiatric history
 
  63319341
  63429122
  109782
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split2109
  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
 
  63979105
  64108839
  129735
  Unknown
  Duplication
  No
  nord_11_ASD_discovery_controls-04C27014
 
 
  Control
 
 
  62636990
  62649987
  12998
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11057.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  63538099
  63735328
  197230
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11091.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  63545960
  63735328
  189369
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11479.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  63545960
  63735328
  189369
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11523.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  63545960
  63762643
  216684
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12041.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  63538099
  63725405
  187307
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12073.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  63538099
  63725405
  187307
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12130.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  63549216
  63725405
  176190
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12238.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  63666250
  63725405
  59156
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12238.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  63545960
  63625572
  79613
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12345.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  63957126
  63968939
  11814
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12368.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  63545960
  63725405
  179446
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12383.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  64506333
  64512488
  6156
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12661.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  64005951
  64013671
  7721
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12964.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  63545960
  63725405
  179446
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13144.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  63545960
  63746419
  200460
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 annunziata_21_ASD_discovery_cases-caseIB253
 qPCR, FISH
 
 Unknown
 
 
 AVPR1A,DPY19L2,HNRNPA1P69
 
 cucinotta_23_ASD_discovery_cases-case373
 
 
 Maternal
 
 
 AVPR1A,HNRNPA1P69
 
 engchuan_15_ASD_discovery_cases-case3126_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4176_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4296_1
 
 
 Unknown
 
 
 RPL14P1,LDHAL6CP,RSL24D1P5,HNRNPA1P69,AVPR1A,RXYLT1,RXYLT1-AS1,DPY19L2
 
 poultney_13_ASD_discovery_cases-case03HI2580A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PABPC1P4,RPL36AP41,RXYLT1,RXYLT1-AS1,DPY19L2,SRGAP1
 
 poultney_13_ASD_discovery_cases-case99HI1144B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 MIR548C,MIR548Z,TBK1,RASSF3,GNS
 
 prasad_12_ASD_discovery_cases-case107778
 
 
 Unknown
 Unknown
 Unknown
 SRGAP1
 
 sanders_11_ASD_discovery_cases-11039.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DPY19L2
 
 sanders_11_ASD_discovery_cases-11160.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-11208.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-11255.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DPY19L2
 
 sanders_11_ASD_discovery_cases-11264.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 DPY19L2
 
 sanders_11_ASD_discovery_cases-11410.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-11412.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-11437.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 TBK1
 
 sanders_11_ASD_discovery_cases-11441.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-11811.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DPY19L2
 
 sanders_11_ASD_discovery_cases-11995.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12215.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12238.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12345.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SRGAP1
 
 sanders_11_ASD_discovery_cases-12350.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12368.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12383.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RASSF3
 
 sanders_11_ASD_discovery_cases-12454.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12454.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12465.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12481.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12518.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12521.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12587.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12594.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12598.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-12964.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-13095.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 DPY19L2
 
 sanders_11_ASD_discovery_cases-13144.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DPY19L2
 
 shen_10_ASD_discovery_cases-ASD-09-053
 
 
 Paternal
 NA
 NA
 HNRNPA1P69,PABPC1P4,RPL36AP41,AVPR1A,RXYLT1,RXYLT1-AS1,DPY19L2,SRGAP1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20110
 
 
  Unknown
 
 
  AVPR1A
 
engchuan_15_ASD_discovery_controls-controlHABC_902862_902862
 
 
  Unknown
 
 
 
 
kanduri_15_ASD_discovery_controls-control_split2109
 
 
  Unknown
 
 
  DPY19L2
 
nord_11_ASD_discovery_controls-04C27014
 
 
 
 
 
  SRGAP1
 
sanders_11_ASD_discovery_controls-11057.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DPY19L2
 
sanders_11_ASD_discovery_controls-11091.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DPY19L2
 
sanders_11_ASD_discovery_controls-11479.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DPY19L2
 
sanders_11_ASD_discovery_controls-11523.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DPY19L2
 
sanders_11_ASD_discovery_controls-12041.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DPY19L2
 
sanders_11_ASD_discovery_controls-12073.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DPY19L2
 
sanders_11_ASD_discovery_controls-12130.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DPY19L2
 
sanders_11_ASD_discovery_controls-12238.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DPY19L2
 
sanders_11_ASD_discovery_controls-12238.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DPY19L2
 
sanders_11_ASD_discovery_controls-12345.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SRGAP1
 
sanders_11_ASD_discovery_controls-12368.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DPY19L2
 
sanders_11_ASD_discovery_controls-12383.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RASSF3
 
sanders_11_ASD_discovery_controls-12661.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SRGAP1
 
sanders_11_ASD_discovery_controls-12964.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DPY19L2
 
sanders_11_ASD_discovery_controls-13144.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DPY19L2
 

No Animal Model Data Available
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