17q23.3CNV Type: Deletion-Duplication
Largest CNV size: 917736 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
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
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
145
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
13908
1
0
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
197154
7
1
8
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
671901
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
941000
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
874116
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
909509
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
25997
0
1
1
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)
28116
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
917736
9
3
12
tropeano_13_DD/ASD_discovery_cases
Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
10397
Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
N/A
63.4% Male
38601
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
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
34747
12
1
13
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
671901
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
121404
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
909509
0
1
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)
1472
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
909454
8
1
9
tropeano_13_DD/ASD_discovery_controls
Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
11277
Control
N/A
N/A
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
tropeano_13_DD/ASD_discovery_cases
70% Caucasian, 15% African, 15% other/mixed ancestry
aCGH
Agilent 60K
Feature Extraction, DNA Analytics
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
tropeano_13_DD/ASD_discovery_controls
77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
Solid phase hybridization
Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11076
NA
M
ASD
NA
NA
63752781
63752926
146
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA162
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
63554732
63568639
13908
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13035_443
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14380_4930
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3160_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4517_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63269346
63466500
197155
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5220_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5259_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5373_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5509_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63872555
63906848
34294
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si87
15
M
Autism
ADOS score: 9. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 114; Non-verbal IQ, 117.
63458184
64130086
671903
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12341.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
63298907
64238908
940002
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case12341.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
63340100
64214217
874118
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12341.p1
NA
M
ASD
NA
NA
63332976
64242485
909510
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case6109_3
N/A
F
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
63973153
63999149
25997
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1739A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU066204; NDAR ID NDAR_INVPW001PZX)
64043988
64072103
28116
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI4133A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0944302; NDAR ID NDAR_INVEM945BTQ)
63917307
63918778
1472
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11038.p1
7.6
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
63872101
63906848
34748
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11064.p1
8.1
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 129; verbal IQ, 86
63872101
63906848
34748
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11172.p1
15.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
63718946
63722480
3535
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11181.p1
6.3
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 101
63872101
63906848
34748
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11365.p1
14.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
62973910
63000663
26754
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11375.p1
6.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
63872101
63906848
34748
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11399.p1
11.9
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
63872101
63906848
34748
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11571.p1
9.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
63872101
63906848
34748
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11617.p1
15.3
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 27
63872101
63906848
34748
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
63882380
63906848
24469
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12341.p1
13.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
63323448
64241185
917738
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12790.p1
7.9
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
62973910
63000663
26754
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_cases-case26
10 mos.
M
Developmental delay
Fine motor delay, motor developmental delay, spinal muscular atrophy
Developmental delay
63869778
63908379
38602
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-control110036017648_
N/A
N/A
Control
No previous psychiatric history
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB578118_1007853652
N/A
N/A
Control
No previous psychiatric history
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB582969_1007853926
N/A
N/A
Control
No previous psychiatric history
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB700840_1007874691
N/A
N/A
Control
No previous psychiatric history
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB747096_1007854180
N/A
N/A
Control
No previous psychiatric history
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB757128_1007874832
N/A
N/A
Control
No previous psychiatric history
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB980109_1007875790
N/A
N/A
Control
No previous psychiatric history
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900257_900257
N/A
N/A
Control
No previous psychiatric history
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900258_900258
N/A
N/A
Control
No previous psychiatric history
63452850
63485012
32163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901005_901005
N/A
N/A
Control
No previous psychiatric history
63872555
63906848
34294
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901077_901077
N/A
N/A
Control
No previous psychiatric history
63872555
63905962
33408
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901129_901129
N/A
N/A
Control
No previous psychiatric history
63872101
63906848
34748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902777_902777
N/A
N/A
Control
No previous psychiatric history
63872101
63906848
34748
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control13391.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
63314387
63435791
121405
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12341.s1
NA
F
Control
NA
NA
63332976
64242485
909510
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C35805A
N/A
M
Control
NIMH Control (NIMH ID 44983)
63917307
63918778
1472
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11030.s1
5.3
F
Control (matched sibling)
NA
NA
63872101
63906848
34748
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11038.s1
6.5
F
Control (matched sibling)
NA
NA
63872101
63906848
34748
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
63718946
63722480
3535
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11296.s1
14
M
Control (matched sibling)
NA
NA
63872101
63906848
34748
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
63877111
63906848
29738
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11869.s1
5.5
F
Control (matched sibling)
NA
NA
63872101
63915777
43677
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12062.s1
7.8
F
Control (matched sibling)
NA
NA
63872101
63906848
34748
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
63331730
64241185
909456
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12682.s1
8.1
M
Control (matched sibling)
NA
NA
63872101
63906848
34748
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11076
Unknown
Simplex
NA
CCDC47
egger_14_ASD_discovery_cases-caseA162
Unknown
Unknown
DCAF7
engchuan_15_ASD_discovery_cases-case13035_443
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_cases-case14380_4930
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_cases-case3160_3
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_cases-case4517_1
Unknown
TANC2,CYB561
engchuan_15_ASD_discovery_cases-case5220_3
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_cases-case5259_3
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_cases-case5373_3
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_cases-case5509_3
Unknown
CSH2,CSH1,GH2
girirajan_11_ASD_discovery_cases-Si87
Maternal
Simplex
ACE3P,RNU6-288P,EEF1DP7,FTSJ3,PSMC5,SMARCD2,TCAM1P,CSH2,CSH1,GH1,PRR29-AS1,PRR29,PPIAP55,ACE,KCNH6,TACO1,MAP3K3,CCDC47,DDX42,GH2,CSHL1,CD79B,ICAM2,DCAF7,STRADA,LIMD2,ERN1,SCN4A
girirajan_13a_ASD_discovery_cases-12341.p1
Unknown
Simplex
Unknown
ACE3P,RNU6-288P,EEF1DP7,FTSJ3,PSMC5,SMARCD2,TCAM1P,CSH2,CSH1,GH1,PRR29-AS1,PRR29,SNHG25,SNORD104,SNORA50C,PPIAP55,ACE,KCNH6,TACO1,MAP3K3,CCDC47,DDX42,GH2,CSHL1,CD79B,ICAM2,TANC2,CYB561,DCAF7,STRADA,LIMD2,ERN1,TEX2,SCN4A
krumm_15_ASD_discovery_cases-case12341.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ACE3P,RNU6-288P,EEF1DP7,FTSJ3,PSMC5,SMARCD2,TCAM1P,CSH2,CSH1,GH1,PRR29-AS1,PRR29,SNHG25,SNORD104,SNORA50C,PPIAP55,ACE,KCNH6,TACO1,MAP3K3,CCDC47,DDX42,GH2,CSHL1,CD79B,ICAM2,TANC2,CYB561,DCAF7,STRADA,LIMD2,ERN1,TEX2,SCN4A
levy_11_ASD_discovery_cases-12341.p1
Maternal
Simplex
Not segregated
ACE3P,RNU6-288P,EEF1DP7,FTSJ3,PSMC5,SMARCD2,TCAM1P,CSH2,CSH1,GH1,PRR29-AS1,PRR29,SNHG25,SNORD104,SNORA50C,PPIAP55,ACE,KCNH6,TACO1,MAP3K3,CCDC47,DDX42,GH2,CSHL1,CD79B,ICAM2,TANC2,CYB561,DCAF7,STRADA,LIMD2,ERN1,TEX2,SCN4A
pinto_14_ASD_discovery_cases2-case6109_3
qPCR
Maternal
Simplex
Segregated (no CNV in unaffected sibling)
PRR29-AS1,PRR29
poultney_13_ASD_discovery_cases-case00HI1739A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ERN1
poultney_13_ASD_discovery_cases-case05HI4133A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GH1,CSHL1
sanders_11_ASD_discovery_cases-11038.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSH2,CSH1,GH2
sanders_11_ASD_discovery_cases-11064.p1
Maternal
Simplex (quad-proband matched)
Segregated
CSH2,CSH1,GH2
sanders_11_ASD_discovery_cases-11172.p1
Paternal
Simplex (quad-proband matched)
Not segregated
STRADA
sanders_11_ASD_discovery_cases-11181.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSH2,CSH1,GH2
sanders_11_ASD_discovery_cases-11365.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11375.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSH2,CSH1,GH2
sanders_11_ASD_discovery_cases-11399.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CSH2,CSH1,GH2
sanders_11_ASD_discovery_cases-11571.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSH2,CSH1,GH2
sanders_11_ASD_discovery_cases-11617.p1
Unknown
Simplex (trio)
NA
CSH2,CSH1,GH2
sanders_11_ASD_discovery_cases-11622.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CSH1
sanders_11_ASD_discovery_cases-12341.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ACE3P,RNU6-288P,EEF1DP7,FTSJ3,PSMC5,SMARCD2,TCAM1P,CSH2,CSH1,GH1,PRR29-AS1,PRR29,SNHG25,SNORD104,SNORA50C,PPIAP55,ACE,KCNH6,TACO1,MAP3K3,CCDC47,DDX42,GH2,CSHL1,CD79B,ICAM2,TANC2,CYB561,DCAF7,STRADA,LIMD2,ERN1,TEX2,SCN4A
sanders_11_ASD_discovery_cases-12790.p1
Maternal
Simplex (quad-proband matched)
Not segregated
tropeano_13_DD/ASD_discovery_cases-case26
Maternal
CSH2,CSH1,GH2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017648_
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_controls-controlB578118_1007853652
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_controls-controlB582969_1007853926
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_controls-controlB700840_1007874691
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_controls-controlB747096_1007854180
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_controls-controlB757128_1007874832
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_controls-controlB980109_1007875790
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_controls-controlHABC_900257_900257
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_controls-controlHABC_900258_900258
Unknown
PPIAP55,ACE
engchuan_15_ASD_discovery_controls-controlHABC_901005_901005
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_controls-controlHABC_901077_901077
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_controls-controlHABC_901129_901129
Unknown
CSH2,CSH1,GH2
engchuan_15_ASD_discovery_controls-controlHABC_902777_902777
Unknown
CSH2,CSH1,GH2
krumm_15_ASD_discovery_controls-control13391.s1
1M-Duov3
Maternal
TANC2,CYB561
levy_11_ASD_discovery_controls-12341.s1
Maternal
Simplex
NA
ACE3P,RNU6-288P,EEF1DP7,FTSJ3,PSMC5,SMARCD2,TCAM1P,CSH2,CSH1,GH1,PRR29-AS1,PRR29,SNHG25,SNORD104,SNORA50C,PPIAP55,ACE,KCNH6,TACO1,MAP3K3,CCDC47,DDX42,GH2,CSHL1,CD79B,ICAM2,TANC2,CYB561,DCAF7,STRADA,LIMD2,ERN1,TEX2,SCN4A
poultney_13_ASD_discovery_controls-control04C35805A
Unknown
GH1,CSHL1
sanders_11_ASD_discovery_controls-11030.s1
Paternal
Simplex (quad)
NA
CSH2,CSH1,GH2
sanders_11_ASD_discovery_controls-11038.s1
Paternal
Simplex (quad)
NA
CSH2,CSH1,GH2
sanders_11_ASD_discovery_controls-11172.s1
Paternal
Simplex (quad)
NA
STRADA
sanders_11_ASD_discovery_controls-11296.s1
Maternal
Simplex (quad)
NA
CSH2,CSH1,GH2
sanders_11_ASD_discovery_controls-11445.s1
Maternal
Simplex (quad)
NA
CSH1,GH2
sanders_11_ASD_discovery_controls-11869.s1
Both parents
Simplex (quad)
NA
CSH2,CSH1,GH2,CSHL1
sanders_11_ASD_discovery_controls-12062.s1
Maternal
Simplex (quad)
NA
CSH2,CSH1,GH2
sanders_11_ASD_discovery_controls-12341.s1
Maternal
Simplex (quad)
NA
ACE3P,RNU6-288P,EEF1DP7,FTSJ3,PSMC5,SMARCD2,TCAM1P,CSH2,CSH1,GH1,PRR29-AS1,PRR29,SNHG25,SNORD104,SNORA50C,PPIAP55,ACE,KCNH6,TACO1,MAP3K3,CCDC47,DDX42,GH2,CSHL1,CD79B,ICAM2,TANC2,CYB561,DCAF7,STRADA,LIMD2,ERN1,TEX2,SCN4A
sanders_11_ASD_discovery_controls-12682.s1
Unknown
Simplex (quad)
NA
CSH2,CSH1,GH2
No Animal Model Data Available