6q23.3CNV Type: Deletion-Duplication
Largest CNV size: 80798 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
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
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.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
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
61165
0
2
2
han_22_ASD/DD/ID_discovery_cases
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
103281
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
1189780
2
2
4
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
43172
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
80798
0
1
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
75000
0
1
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
79158
0
1
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
31527
18
3
21
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
6000
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
195761
0
2
2
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
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
15200
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
43172
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
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)
33254
0
1
1
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)
79158
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.
46039
15
2
17
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-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
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
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
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
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
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
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-case20089_1391001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
137579370
137640535
61166
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3473_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
137060222
137094009
33788
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY107
8 yrs. 2 mos.
M
ASD
135422315
135525595
103281
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001841
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
135249940
136439720
1189781
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002175
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
135397890
135406717
8828
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002240
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
135522003
135710443
188441
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002402
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
136745817
136859553
113737
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11256.p1
NA
M
ASD
NA
NA
135642183
135685354
43172
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0326-003
NA
M
ASD
NA
NA
137568017
137648814
80798
GRCh38
Duplication
Yes
napoli_17_ASD_discovery_cases-case13
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
138274130
138349631
75502
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case81155
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
137941030
138020187
79158
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11247.p1
5.8
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
137069394
137100921
31528
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11393.p1
8.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
134936405
134951643
15239
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11433.p1
13.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ, 96
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11494.p1
17.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11599.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
137069394
137094009
24616
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11625.p1
11.6
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11731.p1
9.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
137069394
137094009
24616
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
134914396
134918994
4599
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11872.p1
7.8
F
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 65; verbal IQ, 67
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11917.p1
8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
134927551
134944511
16961
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11922.p1
11.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11986.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12274.p1
5.4
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 30
134925156
134951643
26488
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12581.p1
12.4
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
138069061
138072177
3117
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
135811980
135830061
18082
GRCh38
Deletion
No
zhou_19_ASD_discovery_cases-caseAU066703
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
135457444
135463356
5913
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB191955_1007874255
N/A
N/A
Control
No previous psychiatric history
135521328
135717089
195762
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902828_902828
N/A
N/A
Control
No previous psychiatric history
137060222
137094009
33788
GRCh38
Duplication
No
leblond_19_ASD_discovery_controls-siblingPN400527
N/A
M
Control
Unaffected sibling of an ASD case
136261374
136276574
15201
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11256.s1
NA
M
Control
NA
NA
135642183
135685354
43172
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C38932A
N/A
M
Control
NIMH Control (NIMH ID 51352)
135457494
135490747
33254
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
135636654
135682693
46040
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
137218368
137219508
1141
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11446.s1
11
F
Control (matched sibling)
NA
NA
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
137069394
137094009
24616
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11620.s1
15.1
F
Control (matched sibling)
NA
NA
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11622.s1
11.1
F
Control (matched sibling)
NA
NA
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11872.s1
6
F
Control (matched sibling)
NA
NA
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11917.s1
4.3
F
Control (matched sibling)
NA
NA
134925156
134944511
19356
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12157.s1
12.8
M
Control (matched sibling)
NA
NA
134925156
134956333
31178
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12229.s1
7.8
F
Control (matched sibling)
NA
NA
134936405
134951643
15239
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12274.s1
7.6
F
Control (matched sibling)
NA
NA
134925156
134951643
26488
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12359.s1
6.3
F
Control (matched sibling)
NA
NA
134927551
134944511
16961
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12481.s1
9
M
Control (matched sibling)
NA
NA
134936405
134951643
15239
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12501.s1
8.1
M
Control (matched sibling)
NA
NA
137219198
137219508
311
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12581.s1
15.7
M
Control (matched sibling)
NA
NA
138069061
138072177
3117
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12695.s1
14.1
M
Control (matched sibling)
NA
NA
134927551
134950808
23258
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-case20089_1391001
Unknown
engchuan_15_ASD_discovery_cases-case3473_3
Unknown
han_22_ASD/DD/ID_discovery_cases-caseY107
Paternal
AHI1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001841
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GAPDHP73,HMGB1P17,COX5BP2,MTFR2,BCLAF1,AHI1,LINC00271,PDE7B,MAP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002175
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
AHI1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002240
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GAPDHP73,HMGB1P17,LINC00271
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002402
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MAP3K5,PEX7
levy_11_ASD_discovery_cases-11256.p1
Maternal
Simplex
Not segregated
LINC00271
marshall_08_ASD_discovery_cases-SK0326-003
qPCR, qmPCR
Unknown
NA
NA
napoli_17_ASD_discovery_cases-case13
RT-PCR
Unknown
ARFGEF3
prasad_12_ASD_discovery_cases-case81155
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11247.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11393.p1
Unknown
Simplex (quad-proband matched)
Segregated
ALDH8A1
sanders_11_ASD_discovery_cases-11433.p1
Both parents
Simplex (quad-proband matched)
Segregated
IFNGR1
sanders_11_ASD_discovery_cases-11439.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IFNGR1
sanders_11_ASD_discovery_cases-11491.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IFNGR1
sanders_11_ASD_discovery_cases-11494.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IFNGR1
sanders_11_ASD_discovery_cases-11592.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IFNGR1
sanders_11_ASD_discovery_cases-11599.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11625.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IFNGR1
sanders_11_ASD_discovery_cases-11731.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11818.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ALDH8A1
sanders_11_ASD_discovery_cases-11872.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IFNGR1
sanders_11_ASD_discovery_cases-11917.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ALDH8A1
sanders_11_ASD_discovery_cases-11922.p1
Maternal
Simplex (quad-proband matched)
Segregated
IFNGR1
sanders_11_ASD_discovery_cases-11986.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IFNGR1
sanders_11_ASD_discovery_cases-12007.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IFNGR1
sanders_11_ASD_discovery_cases-12044.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IFNGR1
sanders_11_ASD_discovery_cases-12274.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ALDH8A1
sanders_11_ASD_discovery_cases-12424.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IFNGR1
sanders_11_ASD_discovery_cases-12581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12661.p1
Unknown
Simplex (quad-proband matched)
Not segregated
zhou_19_ASD_discovery_cases-caseAU066703
qPCR
Maternal
AHI1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB191955_1007874255
Unknown
GAPDHP73,HMGB1P17,LINC00271
engchuan_15_ASD_discovery_controls-controlHABC_902828_902828
Unknown
leblond_19_ASD_discovery_controls-siblingPN400527
Unknown
BCLAF1
levy_11_ASD_discovery_controls-11256.s1
Maternal
Simplex
NA
LINC00271
poultney_13_ASD_discovery_controls-control05C38932A
Unknown
AHI1
sanders_11_ASD_discovery_controls-11256.s1
Maternal
Simplex (quad)
NA
HMGB1P17,LINC00271
sanders_11_ASD_discovery_controls-11439.s1
Both parents
Simplex (quad)
NA
IFNGR1
sanders_11_ASD_discovery_controls-11446.s1
Both parents
Simplex (quad)
NA
IFNGR1
sanders_11_ASD_discovery_controls-11472.s1
Both parents
Simplex (quad)
NA
IFNGR1
sanders_11_ASD_discovery_controls-11564.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11620.s1
Both parents
Simplex (quad)
NA
IFNGR1
sanders_11_ASD_discovery_controls-11622.s1
Both parents
Simplex (quad)
NA
IFNGR1
sanders_11_ASD_discovery_controls-11872.s1
Both parents
Simplex (quad)
NA
IFNGR1
sanders_11_ASD_discovery_controls-11917.s1
Unknown
Simplex (quad)
NA
ALDH8A1
sanders_11_ASD_discovery_controls-12157.s1
Unknown
Simplex (quad)
NA
ALDH8A1
sanders_11_ASD_discovery_controls-12229.s1
Unknown
Simplex (quad)
NA
ALDH8A1
sanders_11_ASD_discovery_controls-12274.s1
Unknown
Simplex (quad)
NA
ALDH8A1
sanders_11_ASD_discovery_controls-12359.s1
Unknown
Simplex (quad)
NA
ALDH8A1
sanders_11_ASD_discovery_controls-12481.s1
Unknown
Simplex (quad)
NA
ALDH8A1
sanders_11_ASD_discovery_controls-12501.s1
Both parents
Simplex (quad)
NA
IFNGR1
sanders_11_ASD_discovery_controls-12581.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12695.s1
Unknown
Simplex (quad)
NA
ALDH8A1
No Animal Model Data Available