13q32.1CNV Type: Deletion-Duplication
Largest CNV size: 996000 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
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.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
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.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al_shehhi_18_ASD/DD/ID_discovery_cases
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
34
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Range, 1 month-24 years
61.76% Male
1188508
0
1
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
151633
1
6
7
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
84917
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
366781
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
1647614
0
2
2
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
7557
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
996000
1
1
2
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
190000
1
0
1
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
101698
0
2
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
992910
6
6
12
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
117982
1
3
4
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
93145
0
6
6
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
19600
0
1
1
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
7557
1
0
1
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
500000
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
46238
5
4
9
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
117982
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al_shehhi_18_ASD/DD/ID_discovery_cases
Ireland
aCGH
Platform N/A
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
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)
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
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
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
al_shehhi_18_ASD/DD/ID_discovery_cases-case32
7 yrs. 10 mos.
M
ASD and developmental delay
ASD, speech and language delay
Learning disability
94797855
95986362
1188508
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case13094_1113
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
94358771
94496124
137354
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1391_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
95288212
95389909
101698
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14173_2800
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
95109329
95260962
151634
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1946_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
95284895
95383629
98735
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5223_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
95294386
95378040
83655
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5352_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
95284895
95378040
93146
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6331_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96675806
96770216
94411
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1496302
Autism
94740493
94825409
84917
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU070008
Autism
95304665
95671445
366781
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001704
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96265059
96974769
709711
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005306
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
95781492
97429106
1647615
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11412.p1
N/A
M
ASD
ASD proband from SSC quad family 11412. SRS score of 70.
Full-scale IQ (FSIQ) score of 107.
95856157
95863714
7558
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11217.p1
NA
M
ASD
NA
NA
95273114
95500647
227534
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11977.p1
NA
M
ASD
NA
NA
96014677
97010676
996000
GRCh38
Deletion
No
napoli_17_ASD_discovery_cases-case17
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
96530430
96720678
190249
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case1391_302
NA
F
ASD
NA
NA
95288212
95389909
101698
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5223_3
NA
F
ASD
NA
NA
95294386
95378040
83655
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11056.p1
6.4
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 90; verbal IQ, 62
95337886
95344415
6530
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11436.p1
4.8
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
95337886
95344415
6530
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11498.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
95337886
95344415
6530
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
95347485
95378040
30556
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11601.p1
6.3
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
95283335
95331133
47799
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
95337886
95344415
6530
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11828.p1
5.5
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 89; verbal IQ, 56
95302822
95331133
28312
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11828.p1
5.5
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 89; verbal IQ, 56
95347485
95378040
30556
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11897.p1
5.9
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
95347485
95378040
30556
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11897.p1
5.9
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
95294386
95331133
36748
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11977.p1
10.2
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
96017217
97010127
992911
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12902.p1
14.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 114; verbal IQ, 123
95336936
95344415
7480
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case452
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
94735027
94853008
117982
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case453
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
94860752
94913738
52987
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case454
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
95268204
95274177
5974
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case455
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
95268204
95274177
5974
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-controlB326251_0067942627
N/A
N/A
Control
No previous psychiatric history
95288212
95378040
89829
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB489094_1007876037
N/A
N/A
Control
No previous psychiatric history
95284895
95378040
93146
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB746728_1007875969
N/A
N/A
Control
No previous psychiatric history
95288212
95378040
89829
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900428_900428
N/A
N/A
Control
No previous psychiatric history
96661576
96720847
59272
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901069_901069
N/A
N/A
Control
No previous psychiatric history
95296667
95378040
81374
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902533_902533
N/A
N/A
Control
No previous psychiatric history
95284895
95378040
93146
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1501
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
95963788
95983387
19600
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control11412.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11412. SRS score of 41.
95856157
95863714
7558
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_controls-AU3899301
N/A
F
Control
Unaffected sibling
95832746
96378746
546001
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11056.s1
10.6
F
Control (matched sibling)
NA
NA
95337886
95344415
6530
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
95337886
95344415
6530
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11498.s1
5.9
M
Control (matched sibling)
NA
NA
95337886
95344415
6530
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11601.s1
9.3
F
Control (matched sibling)
NA
NA
95347485
95378040
30556
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11601.s1
9.3
F
Control (matched sibling)
NA
NA
95284895
95331133
46239
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11828.s1
5.5
F
Control (matched sibling)
NA
NA
95347485
95378040
30556
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11828.s1
5.5
F
Control (matched sibling)
NA
NA
95296667
95331133
34467
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
94869112
94881811
12700
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12902.s1
14.3
M
Control (matched sibling)
NA
NA
95336936
95344415
7480
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al_shehhi_18_ASD/DD/ID_discovery_cases-case32
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
LINC00557,RNU6-62P,RNY3P8,RNY4P27,MEMO1P5,MTND5P2,MTND6P18,MTCYBP3,HMGN1P24,CLDN10-AS1,DZIP1,DNAJC3-DT,ABCC4,CLDN10,DNAJC3,UGGT2
engchuan_15_ASD_discovery_cases-case13094_1113
Unknown
DCT,GPC6
engchuan_15_ASD_discovery_cases-case1391_302
Unknown
RNY3P8,RNY4P27,ABCC4
engchuan_15_ASD_discovery_cases-case14173_2800
Unknown
ABCC4
engchuan_15_ASD_discovery_cases-case1946_301
Unknown
RNY3P8,RNY4P27,ABCC4
engchuan_15_ASD_discovery_cases-case5223_3
Unknown
RNY3P8,RNY4P27,ABCC4
engchuan_15_ASD_discovery_cases-case5352_3
Unknown
RNY3P8,RNY4P27,ABCC4
engchuan_15_ASD_discovery_cases-case6331_3
Unknown
HS6ST3
gai_11_ASD_discovery_cases-AU1496302
Inherited
ABCC4
gai_11_ASD_replication_cases-AU070008
Inherited
UGGT2, HS6ST3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001704
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4501,AMMECR1LP1,HSP90AB6P,RN7SKP7,TULP3P1,HS6ST3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005306
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HMGN1P24,RN7SL164P,MIR4501,AMMECR1LP1,HSP90AB6P,RN7SKP7,RNA5SP37,TULP3P1,LINC00456,DNAJC3,UGGT2,OXGR1,MBNL2,HS6ST3
krumm_13_ASD_discovery_cases-case11412.p1
aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Not segregated
UGGT2
levy_11_ASD_discovery_cases-11217.p1
Paternal
Simplex
Segregated
RNY3P8,RNY4P27,MEMO1P5,CLDN10-AS1,ABCC4,CLDN10
levy_11_ASD_discovery_cases-11977.p1
Maternal
Simplex
Segregated
RN7SL164P,MIR4501,AMMECR1LP1,HSP90AB6P,RN7SKP7,TULP3P1,UGGT2,OXGR1,HS6ST3
napoli_17_ASD_discovery_cases-case17
RT-PCR
Maternal
AMMECR1LP1,HS6ST3
pinto_10_ASD_discovery_cases-case1391_302
Illumina550;Affy5.0
maternal
NA
NA
RNY3P8,RNY4P27,ABCC4
pinto_10_ASD_discovery_cases-case5223_3
Agilent1M
maternal
NA
NA
RNY3P8,RNY4P27,ABCC4
sanders_11_ASD_discovery_cases-11056.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11436.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11498.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11601.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11601.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNY3P8,ABCC4
sanders_11_ASD_discovery_cases-11696.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11828.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNY3P8
sanders_11_ASD_discovery_cases-11828.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11897.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11897.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNY3P8,ABCC4
sanders_11_ASD_discovery_cases-11977.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SL164P,MIR4501,AMMECR1LP1,HSP90AB6P,RN7SKP7,TULP3P1,UGGT2,OXGR1,HS6ST3
sanders_11_ASD_discovery_cases-12902.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case452
Unknown
Unknown
Unknown
BRD7P5,RPL21P112
yin_16_ASD_discovery_cases-case453
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case454
Unknown
Unknown
Unknown
ABCC4
yin_16_ASD_discovery_cases-case455
Unknown
Unknown
Unknown
ABCC4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB326251_0067942627
Unknown
RNY3P8,RNY4P27,ABCC4
engchuan_15_ASD_discovery_controls-controlB489094_1007876037
Unknown
RNY3P8,RNY4P27,ABCC4
engchuan_15_ASD_discovery_controls-controlB746728_1007875969
Unknown
RNY3P8,RNY4P27,ABCC4
engchuan_15_ASD_discovery_controls-controlHABC_900428_900428
Unknown
HS6ST3
engchuan_15_ASD_discovery_controls-controlHABC_901069_901069
Unknown
RNY3P8,RNY4P27,ABCC4
engchuan_15_ASD_discovery_controls-controlHABC_902533_902533
Unknown
RNY3P8,RNY4P27,ABCC4
kanduri_15_ASD_discovery_controls-control_split1501
Unknown
Intergenic CNV: nearest genes, ABCC4(dist=10101),CLDN10(dist=102466)
krumm_13_ASD_discovery_controls-control11412.s1
aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
UGGT2
leppa_16_ASD_discovery_controls-AU3899301
Paternal
Simplex
RN7SL164P,UGGT2,HS6ST3
sanders_11_ASD_discovery_controls-11056.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11436.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11498.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11601.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11601.s1
Paternal
Simplex (quad)
NA
RNY3P8,ABCC4
sanders_11_ASD_discovery_controls-11828.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11828.s1
Paternal
Simplex (quad)
NA
RNY3P8,ABCC4
sanders_11_ASD_discovery_controls-12117.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12902.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available