11q12.1CNV Type: Deletion-Duplication
Largest CNV size: 108622 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
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.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
2998
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
89578
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
563940
0
1
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
28876
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
71517
1
2
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
95938
3
1
4
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
107691
0
2
2
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
3390519
1
0
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)
387818
0
2
2
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
59460
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
108622
8
1
9
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
141243
1
3
4
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
0
0
0
0
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
3084
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
95938
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
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)
115201
0
2
2
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
59460
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.
1051
4
0
4
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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
brandler_18_ASD_discovery_cases-caseSSC12971
N/A
M
ASD
Case from SSC_phase1 cohort
57324077
57327075
2999
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case3419_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
58990125
59079703
89579
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004792
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
57372226
57936167
563942
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1901
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
58834900
58863775
28876
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case11219.p1
N/A
M
ASD
ASD proband from SSC quad family 11219. SRS score of 51.
Full-scale IQ (FSIQ) score of 99.
57488915
57560432
71518
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12303.p1
N/A
M
ASD
ASD proband from SSC quad family 12303. SRS score of 90.
Full-scale IQ (FSIQ) score of 79.
59477429
59515857
38429
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12836.p1
N/A
M
ASD
ASD proband from SSC quad family 12836. SRS score of 65.
Full-scale IQ (FSIQ) score of 127.
59853202
59854835
1634
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11219.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
57488915
57560432
71518
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12197.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
57376849
57380708
3860
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13252.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55935455
55994625
59171
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13709.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55935455
56031393
95939
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11184.p1
NA
M
ASD
NA
NA
59030925
59108305
77381
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11219.p1
NA
M
ASD
NA
NA
57487841
57595531
107691
GRCh38
Duplication
No
o'roak_12_ASD_discovery_cases-case13726.p1
NA
M
ASD/Autism
Case also identified with de novo TREH missense mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 59
57075797
60466318
3390522
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1663A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU056708; NDAR ID NDAR_INVAC801FDF)
59364457
59576721
212265
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case00HI1663A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU056708; NDAR ID NDAR_INVAC801FDF)
56030417
56418234
387818
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case115737L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
58495480
58554939
59460
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case66559
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
57944567
57968817
24251
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
60079245
60124500
45256
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11164.p1
7.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 107; verbal IQ, 89
58864895
58865946
1052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11219.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 98
57488286
57596908
108623
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11327.p1
11.3
M
ASD
NA
Full-scale IQ, 84; non-verbal IQ, 86; verbal IQ, 83
58864895
58865946
1052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11497.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
58864895
58865946
1052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
58864895
58865946
1052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12197.p1
5.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
57375294
57382754
7461
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12623.p1
6.7
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 95
57600379
57605053
4675
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12998.p1
4.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
60078356
60124500
46145
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-control110036023075_
N/A
N/A
Control
No previous psychiatric history
58768358
58909601
141244
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB968409_1007873505
N/A
N/A
Control
No previous psychiatric history
58783228
58904422
121195
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902547_902547
N/A
N/A
Control
No previous psychiatric history
59554388
59600291
45904
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902730_902730
N/A
N/A
Control
No previous psychiatric history
57949958
57989096
39139
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12836.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12836. SRS score of 56.
59852974
59856058
3085
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13709.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55935455
56031393
95939
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C36728A
N/A
F
Control
NIMH Control (NIMH ID 72366)
58724414
58839614
115201
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C38664A
N/A
M
Control
NIMH Control (NIMH ID 97677)
58834427
58839614
5188
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
58864895
58865946
1052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11219.s1
7
F
Control (matched sibling)
NA
NA
58864895
58865946
1052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11316.s1
13.3
F
Control (matched sibling)
NA
NA
58864895
58865946
1052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11575.s1
15.1
F
Control (matched sibling)
NA
NA
58864895
58865946
1052
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC12971
PCR or SNP data validation
Maternal
TNKS1BP1,SSRP1
engchuan_15_ASD_discovery_cases-case3419_3
Unknown
GLYATL1P4,GLYATL1,GLYATL1P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004792
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRG3,PRG2,RNA5SP341,RN7SKP259,RN7SL605P,TIMM10,SMTNL1,RPS4XP13,MIR130A,YPEL4,PPIAP42,SELENOH,BTBD18,RTN4RL2,SLC43A1,UBE2L6,SERPING1,CLP1,MED19,TMX2,TMX2-CTNND1,OR5BA1P,OR5AZ1P,SLC43A3,CTNND1,ZDHHC5
kanduri_15_ASD_discovery_cases-case1901
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, LOC283194(dist=8975),FAM111B(dist=10883)
krumm_13_ASD_discovery_cases-case11219.p1
Paternal
Simplex
Segregated
RN7SL605P,TIMM10,SMTNL1,SLC43A1,UBE2L6
krumm_13_ASD_discovery_cases-case12303.p1
Maternal
Simplex
Segregated
OR4D8P,OR4D11,OR4D9,OR4D10
krumm_13_ASD_discovery_cases-case12836.p1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Not segregated
TCN1
krumm_15_ASD_discovery_cases-case11219.p1
Illumina 1M
Paternal
Simplex
Segregated
RN7SL605P,TIMM10,SMTNL1,SLC43A1,UBE2L6
krumm_15_ASD_discovery_cases-case12197.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PRG3
krumm_15_ASD_discovery_cases-case13252.p1
1M-Duov3
Paternal
Simplex
Segregated
OR5I1,OR10AF1P,OR10AK1P,OR7E5P,OR5F1,OR10AG1
krumm_15_ASD_discovery_cases-case13709.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR5I1,OR10AF1P,OR10AK1P,OR7E5P,OR5F1,OR5F2P,OR5AS1,OR10AG1
levy_11_ASD_discovery_cases-11184.p1
Maternal
Simplex
Segregated
GLYATL1B,GLYATL1P4,GLYATL1,FAM111B
levy_11_ASD_discovery_cases-11219.p1
Paternal
Simplex
Segregated
RN7SL605P,TIMM10,SMTNL1,RPS4XP13,SLC43A1,UBE2L6
o'roak_12_ASD_discovery_cases-case13726.p1
aCGH, Sanger sequencing
De novo
Simplex (quad)
Segregated
LRRC55,APLNR,PRG3,PRG2,RNA5SP341,RN7SKP259,RN7SL605P,TIMM10,SMTNL1,RPS4XP13,MIR130A,YPEL4,PPIAP42,SELENOH,BTBD18,OR5BD1P,CYCSP26,RNU6-899P,OR6Q1,VN2R9P,OR9L1P,OR9I3P,OR9I1,OR9I2P,OR5BL1P,OR9Q2,OR1S2,OR1S1,EIF4A2P3,OR10W1,OR10Q2P,OR5BC1P,OR5B19P,OR5B10P,OR5B17,OR5B1P,OR5B15P,OR5B3,CNTF,TMA16P1,GLYATL1B,FAM111A-DT,RN7SL42P,WARSP1,SLC25A47P1,RN7SL435P,OR5BR1P,OR4D8P,OR4D11,OR4D9,OR4D7P,MIR3162,RN7SKP192,OR10V1,OR10Y1P,OR10V3P,OR10V2P,FABP5P7,MRPL16,TCN1,SRD5A3P1,MIR6503,TNKS1BP1,SSRP1,P2RX3,RTN4RL2,SLC43A1,UBE2L6,SERPING1,CLP1,MED19,TMX2,TMX2-CTNND1,OR5BA1P,OR5AZ1P,OR10Q1,OR5B2,OR5B12,OR5B21,LPXN,GLYATL1P2,GLYATL1P4,FAM111A,DTX4,MPEG1,OR5AN2P,OR5AN1,OR5BB1P,OR5A2,OR5A1,OR4D6,OR4D10,OSBP,OOSP3,OOSP1,OOSP4A,OOSP2,MS4A3,MS4A2,MS4A6A,MS4A4E,MS4A6E,MS4A7,MS4A14,MS4A5,MS4A1,SLC43A3,CTNND1,OR9Q1,ZFP91,ZFP91-CNTF,GLYATL2,GLYATL1,GLYATL1P1,FAM111B,PATL1,OOSP4B,MS4A4A,ZDHHC5,STX3,GLYAT
poultney_13_ASD_discovery_cases-case00HI1663A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
OR4D8P,OR4D11,OR4D9,OR4D7P,OR5AN1,OR5BB1P,OR5A2,OR5A1,OR4D6,OR4D10,OSBP
poultney_13_ASD_discovery_cases-case00HI1663A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
OR5AQ1P,OR5J1P,OR5BE1P,OR8I2,OR8I4P,OR8H2,OR5BN2P,OR8H3,OR5BN1P,OR8J3,OR8K4P,OR8K5,OR5J7P,OR5J2,OR8V1P,OR5T2,OR5T3,OR5T1,OR8H1,OR8I1P,OR8K3,FAM8A2P,OR8K2P,OR8K1,RPL5P29,OR8U1,OR8L1P,OR5AL2P,OR5AL1,OR5R1,OR5AS1,OR8J2,OR8J1
prasad_12_ASD_discovery_cases-case115737L
Unknown
Unknown
Unknown
LOC283194
prasad_12_ASD_discovery_cases-case66559
Unknown
Unknown
Unknown
OR5B2,OR5B12
sanders_11_ASD_discovery_cases-11001.p1
Unknown
Simplex (trio)
NA
MS4A2
sanders_11_ASD_discovery_cases-11164.p1
Paternal
Simplex (quad-proband matched)
Segregated
GLYATL2
sanders_11_ASD_discovery_cases-11219.p1
Paternal
Simplex (quad-proband matched)
Segregated
RN7SL605P,TIMM10,SMTNL1,RPS4XP13,SLC43A1,UBE2L6
sanders_11_ASD_discovery_cases-11327.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GLYATL2
sanders_11_ASD_discovery_cases-11497.p1
Both parents
Simplex (quad-proband matched)
Segregated
GLYATL2
sanders_11_ASD_discovery_cases-11696.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GLYATL2
sanders_11_ASD_discovery_cases-12197.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PRG3
sanders_11_ASD_discovery_cases-12623.p1
Unknown
Simplex (quad-proband matched)
Segregated
SERPING1
sanders_11_ASD_discovery_cases-12998.p1
Unknown
Simplex (trio)
NA
MS4A2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023075_
Unknown
TMA16P1,GLYATL1P2,GLYATL2,GLYATL1
engchuan_15_ASD_discovery_controls-controlB968409_1007873505
Unknown
TMA16P1,GLYATL1P2,GLYATL2
engchuan_15_ASD_discovery_controls-controlHABC_902547_902547
Unknown
MIR3162,OSBP
engchuan_15_ASD_discovery_controls-controlHABC_902730_902730
Unknown
krumm_13_ASD_discovery_controls-control12836.s1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
TCN1
krumm_15_ASD_discovery_controls-control13709.s1
Omni2.5-4v1
Paternal
OR5I1,OR10AF1P,OR10AK1P,OR7E5P,OR5F1,OR5F2P,OR5AS1,OR10AG1
poultney_13_ASD_discovery_controls-control04C36728A
Unknown
TMA16P1,GLYATL2,GLYAT
poultney_13_ASD_discovery_controls-control05C38664A
Unknown
GLYATL2
sanders_11_ASD_discovery_controls-11106.s1
Maternal
Simplex (quad)
NA
GLYATL2
sanders_11_ASD_discovery_controls-11219.s1
Maternal
Simplex (quad)
NA
GLYATL2
sanders_11_ASD_discovery_controls-11316.s1
Maternal
Simplex (quad)
NA
GLYATL2
sanders_11_ASD_discovery_controls-11575.s1
Both parents
Simplex (quad)
NA
GLYATL2
No Animal Model Data Available