15q23CNV Type: Deletion-Duplication
Largest CNV size: 5000000 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Protein interactome reveals converging molecular pathways among autism disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
10429
2
0
2
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
1098
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
85000
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
40956
0
1
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
4569999
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
4320969
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
528705
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
7695
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
170000
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
207429
0
1
1
sakai_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). Probands with CNVs were also identified in Levy et al. 2011 CNV report.
288
High-functioning probands (average IQ, 80.94) diagnosed with idiopathic ASD and with no signs of syndromic disorders on physcial examination or brain imaging.
5000000
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
61258
12
2
14
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
56106
1
1
2
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
204117
1
1
2
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
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
176348
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
5015
1
0
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)
207429
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.
153851
9
3
12
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
56106
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
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
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
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)
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sakai_11_ASD_discovery_cases
aCGH
Agilent 4x44K
aCGH (CMA BAC V8.1, Baylor MGL)
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
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
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
brandler_18_ASD_replication_cases-case2-1328-003
N/A
F
ASD
Case from MSSNG cohort
72051453
72061881
10429
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case3-0482-000
N/A
M
ASD
Case from MSSNG cohort
71904018
71909714
5697
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11076
NA
M
ASD
NA
NA
70671032
70672130
1099
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299913
N/A
F
Developmental delay/intellectual disability
68900555
68985427
84873
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14287_1410
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71419847
71460803
40957
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261319
N/A
F
Dysmorphic features
Patent ductus arteriosus; Feeding difficulties in infancy; Plagiocephaly; Asymmetry of the ears; Single transverse palmar crease; Gingival overgrowth; Skin dimples
67336745
71906741
4569997
GRCh38
Deletion
No
guo_17_ASD_discovery_cases-caseM16229
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
67962203
72283168
4320966
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004175
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
71216221
71387268
171048
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005283
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
69765212
70293917
528706
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13863.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
68361589
68369284
7696
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown42
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
70051756
70221652
169897
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case123422L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
69017605
69225033
207429
Unknown
Duplication
No
sakai_11_ASD_discovery_cases-11233.p1
NA
F
Autism
No history of seizures. Proband also used in Levy et al. 2011 CNV report (levy_11_ASD_discovery_cases-11233.p1).
IQ, 57; verbal IQ, 65; non-verbal IQ, 60
68851855
73853751
5001897
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11285.p1
15.3
M
Autism
NA
Full-scale IQ, 13; non-verbal IQ, 20; verbal IQ, 5
72039917
72042669
2753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11446.p1
8.3
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
72039917
72042669
2753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11601.p1
6.3
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
72039917
72042669
2753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
68750160
68760288
10129
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
72039917
72042669
2753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
68460626
68464362
3737
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11892.p1
6.9
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 70
68745625
68760288
14664
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11905.p1
11.2
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
72039917
72042669
2753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11933.p1
8.7
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
72039917
72042669
2753
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
72039917
72042669
2753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12523.p1
6.1
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 95
68460626
68464362
3737
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
69310385
69371643
61259
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
70194233
70195383
1151
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13304.p1
6.9
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
72039917
72042669
2753
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case480
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
70644099
70700204
56106
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case481
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
71376776
71380414
3639
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-controlB783745_1007872647
N/A
N/A
Control
No previous psychiatric history
67239678
67283207
43530
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900259_900259
N/A
N/A
Control
No previous psychiatric history
70939166
71143283
204118
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1532
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
71172698
71349045
176348
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control11377.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
67395290
67400305
5016
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11148.s1
12.2
F
Control (matched sibling)
NA
NA
72039917
72044469
4553
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11284.s1
7.1
F
Control (matched sibling)
NA
NA
72039917
72042669
2753
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11307.s1
13.1
M
Control (matched sibling)
NA
NA
68460626
68464362
3737
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11644.s1
14.2
F
Control (matched sibling)
NA
NA
68750160
68760288
10129
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11731.s1
5.3
F
Control (matched sibling)
NA
NA
71325395
71342857
17463
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11753.s1
15.1
F
Control (matched sibling)
NA
NA
68460626
68464362
3737
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12337.s1
13.3
M
Control (matched sibling)
NA
NA
68750160
68760288
10129
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
72039917
72042669
2753
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12437.s1
14.1
M
Control (matched sibling)
NA
NA
68750160
68760288
10129
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12676.s1
9.2
M
Control (matched sibling)
NA
NA
71219976
71373827
153852
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
68363697
68365242
1546
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
68805610
68829122
23513
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case2-1328-003
No validation step reported
Maternal
MYO9A
brandler_18_ASD_replication_cases-case3-0482-000
No validation step reported
Paternal
MYO9A
celestino-soper_11_ASD_discovery_cases-11076
Unknown
Simplex
NA
UACA
digregorio_17_DD/ID_discovery_cases-DECIPHER_299913
Maternal
SPESP1,NOX5
engchuan_15_ASD_discovery_cases-case14287_1410
Unknown
THSD4
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261319
De novo
Unknown
Unknown
C15orf61,HNRNPA1P5,RNU6-1,CALML4,HMGN2P40,CARSP1,MIR4312,RPLP1,MIR629,RNU6-745P,LINC02205,SALRNA3,SALRNA2,RPL29P30,KRT8P9,THAP10,RPL5P3,CT62,HMGB1P6,RNA5SP399,SKOR1,CLN6,KIF23,TLE3,LINC02204,UACA,LARP6,NR2E3,IQCH,IQCH-AS1,MAP2K5,FEM1B,ITGA11,CORO2B,ANP32A,SPESP1,NOX5,EWSAT1,PAQR5,DRAIC,LRRC49,THSD4-AS1,MYO9A,PIAS1,GLCE,THSD4
guo_17_ASD_discovery_cases-caseM16229
qPCR
De novo
CALML4,HMGN2P40,CARSP1,MIR4312,RPLP1,MIR629,RNU6-745P,LINC02205,SALRNA3,SALRNA2,RPL29P30,KRT8P9,THAP10,RPL5P3,CT62,HMGB1P6,RNA5SP399,EIF5A2P1,RNU2-65P,CLN6,KIF23,TLE3,LINC02204,UACA,LARP6,NR2E3,SENP8,GRAMD2A,PARP6,FEM1B,ITGA11,CORO2B,ANP32A,SPESP1,NOX5,EWSAT1,PAQR5,DRAIC,LRRC49,THSD4-AS1,MYO9A,PKM,PIAS1,GLCE,THSD4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004175
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
THSD4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005283
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR629,RNU6-745P,TLE3,DRAIC
krumm_15_ASD_discovery_cases-case13863.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
ITGA11
maini_18_ASD/DD/ID_discovery_cases-case_unknown42
Maternal
Unknown
Unknown
MIR629,RNU6-745P,TLE3
prasad_12_ASD_discovery_cases-case123422L
Unknown
Unknown
Unknown
LRRC49,THSD4,CT62
sakai_11_ASD_discovery_cases-11233.p1
aCGH (CMA BAC V8.1, Baylor MGL)
De novo
Simplex
NA
RPLP1,MIR629,RNU6-745P,LINC02205,SALRNA3,SALRNA2,RPL29P30,KRT8P9,THAP10,RPL5P3,CT62,HMGB1P6,RNA5SP399,EIF5A2P1,RNU2-65P,HEXA-AS1,RPL12P35,PHBP20,MIR630,RN7SL853P,NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,KIF23,TLE3,LINC02204,UACA,LARP6,NR2E3,SENP8,GRAMD2A,PARP6,CELF6,TMEM202,TMEM202-AS1,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,SPESP1,NOX5,EWSAT1,PAQR5,DRAIC,LRRC49,THSD4-AS1,MYO9A,PKM,ARIH1,LINC02259,NEO1,REC114,GLCE,THSD4,HEXA
sanders_11_ASD_discovery_cases-11285.p1
Maternal
Simplex (quad-proband matched)
Not segregated
EIF5A2P1,MYO9A
sanders_11_ASD_discovery_cases-11446.p1
Maternal
Simplex (quad-proband matched)
Not segregated
EIF5A2P1,MYO9A
sanders_11_ASD_discovery_cases-11601.p1
Maternal
Simplex (quad-proband matched)
Not segregated
EIF5A2P1,MYO9A
sanders_11_ASD_discovery_cases-11680.p1
Maternal
Simplex (trio)
NA
CARSP1
sanders_11_ASD_discovery_cases-11691.p1
Paternal
Simplex (quad-proband matched)
Not segregated
EIF5A2P1,MYO9A
sanders_11_ASD_discovery_cases-11753.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11892.p1
Paternal
Simplex (quad-proband matched)
Segregated
CARSP1
sanders_11_ASD_discovery_cases-11905.p1
Maternal
Simplex (quad-proband matched)
Not segregated
EIF5A2P1,MYO9A
sanders_11_ASD_discovery_cases-11933.p1
Paternal
Simplex (quad-proband matched)
Not segregated
EIF5A2P1,MYO9A
sanders_11_ASD_discovery_cases-12341.p1
Paternal
Simplex (quad-proband matched)
Not segregated
EIF5A2P1,MYO9A
sanders_11_ASD_discovery_cases-12523.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13097.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PAQR5
sanders_11_ASD_discovery_cases-13251.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13304.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
EIF5A2P1,MYO9A
yin_16_ASD_discovery_cases-case480
Unknown
Unknown
Unknown
UACA
yin_16_ASD_discovery_cases-case481
Unknown
Unknown
Unknown
THSD4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB783745_1007872647
Unknown
AAGAB,IQCH
engchuan_15_ASD_discovery_controls-controlHABC_900259_900259
Unknown
RPL5P3,CT62,LRRC49,THSD4
kanduri_15_ASD_discovery_controls-control_split1532
Unknown
LRRC49,THAP10
krumm_15_ASD_discovery_controls-control11377.s1
Illumina 1M
Maternal
IQCH
sanders_11_ASD_discovery_controls-11148.s1
Maternal
Simplex (quad)
NA
EIF5A2P1,MYO9A
sanders_11_ASD_discovery_controls-11284.s1
Maternal
Simplex (quad)
NA
EIF5A2P1,MYO9A
sanders_11_ASD_discovery_controls-11307.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11644.s1
Both parents
Simplex (quad)
NA
CARSP1
sanders_11_ASD_discovery_controls-11731.s1
Maternal
Simplex (quad)
NA
THSD4
sanders_11_ASD_discovery_controls-11753.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12337.s1
Paternal
Simplex (quad)
NA
CARSP1
sanders_11_ASD_discovery_controls-12341.s1
Paternal
Simplex (quad)
NA
EIF5A2P1,MYO9A
sanders_11_ASD_discovery_controls-12437.s1
Paternal
Simplex (quad)
NA
CARSP1
sanders_11_ASD_discovery_controls-12676.s1
Paternal
Simplex (quad)
NA
THSD4
sanders_11_ASD_discovery_controls-12701.s1
Unknown
Simplex (quad)
NA
ITGA11
sanders_11_ASD_discovery_controls-13233.s1
Unknown
Simplex (quad)
NA
ANP32A,SPESP1
No Animal Model Data Available