13q33.1CNV Type: Deletion-Duplication
Largest CNV size: 259990 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
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 deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-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
956066
2
3
5
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
1429367
1
0
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
1116289
1
2
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
3316
0
3
3
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
259990
1
2
3
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
244048
1
1
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
16017
6
3
9
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
10860
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
622262
1
2
3
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
1429367
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
462854
2
0
2
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
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
43196
1
0
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.
15331
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)
78107
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)
244048
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.
38025
6
1
7
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
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_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
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
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
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
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-case14145_2430
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
103862473
103966594
104122
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4193_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
102532289
103488355
956067
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5115_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
102777130
103037119
259990
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5115_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
103139610
103214754
75145
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5419_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
102072420
102147884
75465
GRCh38
Deletion
No
griswold_12_ASD_discovery_cases-case3524
NA
NA
ASD/autism
NA
NA
104094836
105524204
1429369
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002069
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
102516631
102862008
345378
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002508
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
102822081
103938370
1116290
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002720
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
101387742
101636191
248450
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11989.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
103046132
103049446
3315
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13058.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
103046132
103049448
3317
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13888.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
103046132
103049448
3317
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5115_3
NA
M
ASD
NA
NA
102777130
103037119
259990
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5115_3
NA
M
ASD
NA
NA
103139610
103214754
75145
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5419_3
NA
M
Autism
No epilepsy; long, wide palpebral fissures, wide mouth, protruding ears, no other dysmorphic features
Unknown
102072420
102147884
75465
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case96280L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
101524562
101598773
74212
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseMM0234-5
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
102224958
102469005
244048
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11063.p1
9.3
M
Aspergers
NA
Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
103037119
103046863
9745
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
103281724
103285570
3847
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11707.p1
13.5
M
Autism
NA
Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
103037119
103046280
9162
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11969.p1
14.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
102464846
102471042
6197
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
103032716
103046863
14148
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
103624829
103625930
1102
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12395.p1
5.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
102517006
102532438
15433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12961.p1
4.4
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
103663941
103679958
16018
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
102464846
102471042
6197
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
103239663
103250522
10860
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036014751_
N/A
N/A
Control
No previous psychiatric history
103603710
103931125
327416
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB566863_1007875835
N/A
N/A
Control
No previous psychiatric history
103275548
103897810
622263
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB823925_0067942577
N/A
N/A
Control
No previous psychiatric history
101759724
101829031
69308
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1883
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
103347428
103354056
6629
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split860
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
103400083
103862936
462854
Unknown
Deletion
No
levy_11_ASD_discovery_controls-11472.s1
NA
F
Control
NA
NA
101584039
101627234
43196
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27862
Control
102824568
102839898
15331
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C29638A
N/A
M
Control
NIMH Control (NIMH ID 45390)
102616394
102694500
78107
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
101586394
101624419
38026
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11484.s1
14.4
M
Control (matched sibling)
NA
NA
102464846
102473232
8387
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11969.s1
17.5
M
Control (matched sibling)
NA
NA
102464846
102471042
6197
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11989.s1
8.1
F
Control (matched sibling)
NA
NA
103032716
103046863
14148
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
103663941
103679958
16018
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12372.s1
13.5
F
Control (matched sibling)
NA
NA
103663941
103684577
20637
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12657.s1
10.8
F
Control (matched sibling)
NA
NA
103663941
103679958
16018
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-case14145_2430
Unknown
engchuan_15_ASD_discovery_cases-case4193_1
Unknown
LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,TPP2,METTL21EP
engchuan_15_ASD_discovery_cases-case5115_3
Unknown
KDELC1,BIVM,BIVM-ERCC5,ERCC5,METTL21EP
engchuan_15_ASD_discovery_cases-case5115_3
Unknown
engchuan_15_ASD_discovery_cases-case5419_3
Unknown
FGF14
griswold_12_ASD_discovery_cases-case3524
qPCR
Paternal
Multiplex
Not segregated
RPL7P45,DAOA-AS1,DAOA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002069
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
LINC00555,METTL21C,TEX30,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,TPP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002508
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01309,ATP6V1G1P7,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,METTL21EP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002720
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NALCN,ITGBL1
krumm_15_ASD_discovery_cases-case11989.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SLC10A2
krumm_15_ASD_discovery_cases-case13058.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
SLC10A2
krumm_15_ASD_discovery_cases-case13888.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
SLC10A2
pinto_10_ASD_discovery_cases-case5115_3
Agilent1M
paternal
NA
NA
KDELC1,BIVM,BIVM-ERCC5,ERCC5,METTL21EP
pinto_10_ASD_discovery_cases-case5115_3
Agilent1M
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5419_3
Agilent1M-Paternal
paternal
Simplex
NA
FGF14
prasad_12_ASD_discovery_cases-case96280L
Unknown
Unknown
Unknown
FGF14
prasad_12_ASD_discovery_cases-caseMM0234-5
Unknown
Unknown
Unknown
KDELC1,BIVM,ERCC5,LOC121952,BIVM-ERCC5
sanders_11_ASD_discovery_cases-11063.p1
Maternal
Simplex (quad-proband matched)
Segregated
SLC10A2
sanders_11_ASD_discovery_cases-11080.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11707.p1
Paternal
Simplex (quad-proband matched)
Segregated
SLC10A2
sanders_11_ASD_discovery_cases-11969.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11989.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC10A2
sanders_11_ASD_discovery_cases-12033.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12395.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12961.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13337.p1
Unknown
Simplex (trio)
NA
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036014751_
Unknown
engchuan_15_ASD_discovery_controls-controlB566863_1007875835
Unknown
LINC01309,ATP6V1G1P7
engchuan_15_ASD_discovery_controls-controlB823925_0067942577
Unknown
RNU1-24P,HMGB3P7,FGF14
kanduri_15_ASD_discovery_controls-control_split1883
Unknown
METTL21C (upstream of gene)
kanduri_15_ASD_discovery_controls-control_split860
Unknown
BIVM,BIVM-ERCC5,CCDC168,ERCC5,KDELC1,SLC10A2,TEX30
levy_11_ASD_discovery_controls-11472.s1
aCGH (Agilent 244K)
De novo
Simplex
NA
ITGBL1
nord_11_ASD_discovery_controls-04C27862
0 genes
poultney_13_ASD_discovery_controls-control04C29638A
Unknown
METTL21C,TPP2
sanders_11_ASD_discovery_controls-11472.s1
Unknown
Simplex (quad)
NA
ITGBL1
sanders_11_ASD_discovery_controls-11484.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11969.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11989.s1
Maternal
Simplex (quad)
NA
SLC10A2
sanders_11_ASD_discovery_controls-12083.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12372.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12657.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available