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10p12.33CNV Type: Deletion-Duplication


Largest CNV size: 141291 bp

Statistics Box:
Number of Reports: 9



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
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
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
 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
 37355
 0
 1
 1
 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
 73250
 1
 0
 1
 guo_17_ASD_discovery_cases
 ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
 546
 Diagnosis of ASD based on DSM-IV-TR criteria
 Mean, 5.065 years
 N/A
 1103746
 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
 15880
 0
 1
 1
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 156336
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 141291
 0
 1
 1
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 116708
 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
 40291
 2
 0
 2
 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
 139202
 10
 3
 13

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
 419135
 3
 2
 5
 guo_17_ASD_discovery_controls
 Control subjects screened for rare, large (>1 Mb) CNVs
 988
 No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 Mean, 34.3 years
 N/A
 0
 0
 0
 0
 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
 42167
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 55355
 0
 1
 1
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 156336
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 141291
 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.
 
 68323
 1
 1
 2
 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)
 40291
 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.
 
 417614
 5
 1
 6

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
 
 qPCR, Taqman assay
 guo_17_ASD_discovery_cases
  Chinese Han
 Solid phase hybridization
  Illumina 370K or 660K BeadChip
 PennCNV
 
 qPCR
 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
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 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
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  guo_17_ASD_discovery_controls
  Chinese Han
  Solid phase hybridization
  Illumina 610K BeadChip
  PennCNV
 
 
  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
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  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
  engchuan_15_ASD_discovery_cases-case8709_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18999153
 19036508
  37356
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case686-3
 6 yrs.
 M
 ASD
 ASD; no other clinical information provided
 N/A
 17951663
 18024913
  73251
 GRCh38
 Deletion
 Yes
  guo_17_ASD_discovery_cases-caseM12457
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
 
 17477719
 18334534
  856816
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12317.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12317. SRS score of 53.
 Full-scale IQ (FSIQ) score of 91.
 17987478
 18003358
  15881
 GRCh38
 Duplication
 No (not tested)
  larson_17_ASD_discovery_cases-case74
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 18037327
 18193663
  156336
 GRCh37
 Duplication
 No
  larson_17_ASD_discovery_cases-case75
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 18037327
 18193663
  156336
 GRCh37
 Duplication
 No
  levy_11_ASD_discovery_cases-12317.p1
 NA
 M
 ASD
 NA
 NA
 17986086
 18127376
  141291
 GRCh38
 Duplication
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband3
 15 yrs.
 M
 ASD and ID
 Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
 Intellectual disability
 17839748
 17934423
  94676
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case146440L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 17337168
 17377458
  40291
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60973L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 19359732
 19383153
  23422
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11053.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 77
 19210835
 19247391
  36557
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11266.p1
 4.3
 F
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
 19230761
 19235562
  4802
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11371.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
 19031864
 19068602
  36739
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11412.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 119; verbal IQ, 85
 18552866
 18583943
  31078
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11659.p1
 6.4
 F
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
 18649305
 18651228
  1924
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11824.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
 19225707
 19231821
  6115
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12020.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
 17782963
 17795524
  12562
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12070.p1
 14.4
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 77; verbal IQ, 82
 17495367
 17498371
  3005
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12071.p1
 11.7
 F
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
 19145912
 19222180
  76269
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12279.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
 17240449
 17250513
  10065
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12317.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 92; verbal IQ, 95
 17987832
 18127034
  139203
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12343.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
 19534259
 19536147
  1889
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12691.p1
 10.9
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
 17241951
 17250513
  8563
 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-control110036022481_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19126731
  19545866
  419136
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB306817_1007874015
  N/A
  N/A
  Control
  No previous psychiatric history
 
  18999153
  19036508
  37356
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB373760_1007843552
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19154516
  19200712
  46197
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB598149_1007874481
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19255056
  19361791
  106736
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB937715_1007844782
  N/A
  N/A
  Control
  No previous psychiatric history
 
  18059668
  18096255
  36588
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12317.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12317. SRS score of 46.
 
  18000666
  18042833
  42168
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12317.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  17987478
  18042833
  55356
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-12317.s1
  NA
  F
  Control
  NA
  NA
  17986086
  18127376
  141291
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C28333
 
 
  Control
 
 
  19354887
  19384823
  29937
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C28333
 
 
  Control
 
 
  19424644
  19492966
  68323
  Unknown
  Duplication
 
  sanders_11_ASD_discovery_controls-11040.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  19128252
  19545866
  417615
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11053.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  19210835
  19247391
  36557
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12317.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  17987832
  18127034
  139203
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12691.s1
  23.8
  M
  Control (matched sibling)
  NA
  NA
  17241951
  17250513
  8563
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12977.s1
  5.3
  M
  Control (matched sibling)
  NA
  NA
  19465412
  19470169
  4758
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13175.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  17240449
  17250513
  10065
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case8709_201
 
 
 Unknown
 
 
 
 
 gazzellone_14_ASD_discovery_cases-case686-3
 qPCR or Taqman assay
 
 Paternal
 Unknown
 Unknown
 SLC39A12-AS1,SLC39A12
 
 guo_17_ASD_discovery_cases-caseM12457
 qPCR
 
 Unknown
 
 
 PRPF38AP2,STAM-AS1,MIR511,HACD1,TMEM236,SLC39A12-AS1,STAM,SLC39A12,CACNB2,MRC1
 
 krumm_13_ASD_discovery_cases-case12317.p1
 
 
 Paternal
 Simplex
 Not segregated
 SLC39A12-AS1,SLC39A12
 
 larson_17_ASD_discovery_cases-case74
 
 
 Unknown
 
 Unknown
 MRC1, TMEM236, MIR511-1, MIR511-2, MRC1
 
 larson_17_ASD_discovery_cases-case75
 
 
 Unknown
 
 Unknown
 MRC1, TMEM236, MIR511-1, MIR511-2, MRC1
 
 levy_11_ASD_discovery_cases-12317.p1
 
 
 Paternal
 Simplex
 Not segregated
 SLC39A12-AS1,SLC39A12
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband3
 
 
 Unknown
 Simplex
 Unknown
 MIR511,MRC1
 
 prasad_12_ASD_discovery_cases-case146440L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case60973L
 
 
 Unknown
 Multiplex
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11053.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MALRD1
 
 sanders_11_ASD_discovery_cases-11266.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MALRD1
 
 sanders_11_ASD_discovery_cases-11371.p1
 
 
 Maternal
 Simplex (trio)
 NA
 UBE2V2P1,MALRD1
 
 sanders_11_ASD_discovery_cases-11412.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 NSUN6
 
 sanders_11_ASD_discovery_cases-11659.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NSUN6
 
 sanders_11_ASD_discovery_cases-11824.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 MALRD1
 
 sanders_11_ASD_discovery_cases-12020.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TMEM236
 
 sanders_11_ASD_discovery_cases-12070.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12071.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MALRD1
 
 sanders_11_ASD_discovery_cases-12279.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12317.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC39A12-AS1,SLC39A12
 
 sanders_11_ASD_discovery_cases-12343.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MALRD1
 
 sanders_11_ASD_discovery_cases-12691.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036022481_
 
 
  Unknown
 
 
  HMGN1P20,MALRD1
 
engchuan_15_ASD_discovery_controls-controlB306817_1007874015
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB373760_1007843552
 
 
  Unknown
 
 
  MALRD1
 
engchuan_15_ASD_discovery_controls-controlB598149_1007874481
 
 
  Unknown
 
 
  MALRD1
 
engchuan_15_ASD_discovery_controls-controlB937715_1007844782
 
 
  Unknown
 
 
 
 
krumm_13_ASD_discovery_controls-control12317.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  SLC39A12-AS1,SLC39A12
 
krumm_15_ASD_discovery_controls-control12317.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SLC39A12-AS1,SLC39A12
 
levy_11_ASD_discovery_controls-12317.s1
 
 
  Paternal
  Simplex
  NA
  SLC39A12-AS1,SLC39A12
 
nord_11_ASD_discovery_controls-04C28333
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28333
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11040.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HMGN1P20,MALRD1
 
sanders_11_ASD_discovery_controls-11053.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MALRD1
 
sanders_11_ASD_discovery_controls-12317.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC39A12-AS1,SLC39A12
 
sanders_11_ASD_discovery_controls-12691.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12977.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MALRD1
 
sanders_11_ASD_discovery_controls-13175.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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