1q25.1CNV Type: Deletion-Duplication
Largest CNV size: 330138 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
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
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
83773
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
341975
1
5
6
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
214228
2
0
2
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.
336513
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
328000
0
6
6
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
330138
0
2
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
34280
1
0
1
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
328736
0
1
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
168876
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)
64886
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
458581
1
1
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
328468
1
3
4
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
690
4
0
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
326387
3
2
5
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.
336513
0
0
0
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
59622
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
76072
1
0
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
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.
129586
2
0
2
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
690
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
aCGH (NimbleGen 135K array)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
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
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_13a_ASD_discovery_controls1
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
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
cucinotta_23_ASD_discovery_cases-case439
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
175905621
175989393
83773
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14039_680
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
174366163
174708138
341976
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3225_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
174224115
174521145
297031
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4150_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
175461719
175788106
326388
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4266_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
175461719
175790187
328469
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4285_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
175461719
175800123
338405
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6340_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
173906263
174075138
168876
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU0616301
Autism
172729672
172943899
214228
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0616302
Autism
172729672
172943899
214228
Unknown
Deletion
No
girirajan_11_ASD_discovery_cases-Si170
18
M
Autism
ADOS score: NA. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 128; Non-verbal IQ, 97.
175409089
175745602
336514
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11469.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
175464241
175794241
330001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13676.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
175464241
175794241
330001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14019.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
174577929
174693466
115538
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14066.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
175464241
175794241
330001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14155.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
175464241
175794241
330001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14175.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
175464241
175794241
330001
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11176.p1
NA
M
ASD
NA
NA
175062832
175144203
81372
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11469.p1
NA
M
ASD
NA
NA
175462308
175792445
330138
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-256-1
ASD
173375860
173410139
34280
Unknown
Deletion
No
o'roak_12_ASD_discovery_cases-case11469.p1
NA
M
ASD/Autism
No additional clinical info available.
High IQ. Non verbal IQ, 97
175461719
175790455
328737
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case6340_3
NA
M
Autism
No language delay, chronic otitis, normal physical exam, no epilepsy, brain MRI: Arnold Chiari type I
Mild MR
173906263
174075138
168876
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case03HI2596A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0616302; NDAR ID NDAR_INVUD580RFU)
174637373
174702258
64886
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1477-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
174181712
174277574
95863
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1639-0
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
174954209
175412790
458582
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11176.p1
12.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
175062850
175143982
81133
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11294.p1
6.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
174686005
174888844
202840
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11469.p1
15.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 97; verbal IQ, 128
175461719
175790187
328469
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
173782395
173863668
81274
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case39
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
174833002
174833691
690
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case40
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
174833002
174833691
690
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case41
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
174833002
174833691
690
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case42
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
174833002
174833691
690
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-controlB621185_1007852924
N/A
N/A
Control
No previous psychiatric history
175461719
175788106
326388
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB928566_1007844750
N/A
N/A
Control
No previous psychiatric history
173068862
173162769
93908
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900148_900148
N/A
N/A
Control
No previous psychiatric history
174401104
174679861
278758
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900605_900605
N/A
N/A
Control
No previous psychiatric history
174296153
174367978
71826
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900810_900810
N/A
N/A
Control
No previous psychiatric history
174232346
174377138
144793
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13035.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
174219157
174278779
59623
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C26363
Control
172464690
172540761
76072
Unknown
Deletion
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
173747787
173823968
76182
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13035.s1
12.8
F
Control (matched sibling)
NA
NA
174149900
174279486
129587
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cucinotta_23_ASD_discovery_cases-case439
Maternal
COP1,SCARNA3,RPS29P5,LINC02803
engchuan_15_ASD_discovery_cases-case14039_680
Unknown
GPR52,RABGAP1L
engchuan_15_ASD_discovery_cases-case3225_3
Unknown
GPR52,RABGAP1L
engchuan_15_ASD_discovery_cases-case4150_1
Unknown
TNR-IT1,TNR
engchuan_15_ASD_discovery_cases-case4266_1
Unknown
TNR-IT1,TNR
engchuan_15_ASD_discovery_cases-case4285_1
Unknown
TNR-IT1,TNR
engchuan_15_ASD_discovery_cases-case6340_3
Unknown
RNA5SP67,RNA5SP68,SERPINC1,RC3H1-IT1,RC3H1
gai_11_ASD_replication_cases-AU0616301
Inherited
RABGAP1L
gai_11_ASD_replication_cases-AU0616302
Inherited
RABGAP1L
girirajan_11_ASD_discovery_cases-Si170
Unknown
Simplex
TNR-IT1,TNR
girirajan_13a_ASD_discovery_cases-11469.p1
Unknown
Simplex
Unknown
TNR-IT1,TNR
girirajan_13a_ASD_discovery_cases-13676.p1
Unknown
Simplex
Unknown
TNR-IT1,TNR
girirajan_13a_ASD_discovery_cases-14019.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RABGAP1L
girirajan_13a_ASD_discovery_cases-14066.p1
Unknown
Simplex
Unknown
TNR-IT1,TNR
girirajan_13a_ASD_discovery_cases-14155.p1
Unknown
Simplex
Unknown
TNR-IT1,TNR
girirajan_13a_ASD_discovery_cases-14175.p1
Unknown
Simplex
Unknown
TNR-IT1,TNR
levy_11_ASD_discovery_cases-11176.p1
Maternal
Simplex
Segregated
TNN
levy_11_ASD_discovery_cases-11469.p1
Paternal
Simplex
Segregated
TNR-IT1,TNR
nord_11_ASD_discovery_cases-256-1
Maternal
KIAA0040,TNN
o'roak_12_ASD_discovery_cases-case11469.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
TNR-IT1,TNR
pinto_10_ASD_discovery_cases-case6340_3
qPCR-Paternal
paternal
NA
NA
RNA5SP67,RNA5SP68,SERPINC1,RC3H1-IT1,RC3H1
poultney_13_ASD_discovery_cases-case03HI2596A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RABGAP1L
sajan_13_ACC/CBLH/PMG_discovery_cases-case1477-0
Not tested by qPCR
Unknown
Unknown
Unknown
RABGAP1L
sajan_13_ACC/CBLH/PMG_discovery_cases-case1639-0
qPCR
Maternal
Unknown
Unknown
RNU6-307P,CACYBP,SDCCAG3P2,RPS29P4,MRPS14,KIAA0040,RABGAP1L,TNR,TNN
sanders_11_ASD_discovery_cases-11176.p1
Maternal
Simplex (quad-proband matched)
Segregated
TNN
sanders_11_ASD_discovery_cases-11294.p1
Maternal
Simplex (trio)
NA
BANF1P4,RABGAP1L,NDUFAF4P4
sanders_11_ASD_discovery_cases-11469.p1
Paternal
Simplex (quad-proband matched)
Segregated
TNR-IT1,TNR
sanders_11_ASD_discovery_cases-12424.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RN7SKP160,GAS5-AS1,KLHL20,DARS2,CENPL
yin_16_ASD_discovery_cases-case39
Unknown
Unknown
Unknown
RABGAP1L
yin_16_ASD_discovery_cases-case40
Unknown
Unknown
Unknown
RABGAP1L
yin_16_ASD_discovery_cases-case41
Unknown
Unknown
Unknown
RABGAP1L
yin_16_ASD_discovery_cases-case42
Unknown
Unknown
Unknown
RABGAP1L
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB621185_1007852924
Unknown
TNR-IT1,TNR
engchuan_15_ASD_discovery_controls-controlB928566_1007844750
Unknown
GOT2P2
engchuan_15_ASD_discovery_controls-controlHABC_900148_900148
Unknown
GPR52,RABGAP1L
engchuan_15_ASD_discovery_controls-controlHABC_900605_900605
Unknown
RABGAP1L
engchuan_15_ASD_discovery_controls-controlHABC_900810_900810
Unknown
RABGAP1L
krumm_15_ASD_discovery_controls-control13035.s1
Illumina 1MDuo
Paternal
RABGAP1L
nord_11_ASD_discovery_controls-04C26363
RABGAP1L
sanders_11_ASD_discovery_controls-11918.s1
Unknown
Simplex (quad)
NA
RN7SKP160,KLHL20,CENPL
sanders_11_ASD_discovery_controls-13035.s1
Paternal
Simplex (quad)
NA
RABGAP1L
No Animal Model Data Available