10p15.1CNV Type: Deletion-Duplication
Largest CNV size: 318000 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
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.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-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.
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
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
318
0
1
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
52037
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
131268
1
1
2
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
161687
1
0
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
395000
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
391288
0
1
1
jacob_09_Rett_discovery_cases
3 yr old female diagnosed with a variant form of Rett syndrome
1
Rett syndrome
3
Female
318000
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
57339
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
214890
2
1
3
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
148472
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
26560
1
2
3
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
42316
0
1
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
162116
10
2
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
100575
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
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
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
8402
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
26560
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.
587197
8
3
11
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
100575
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
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
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
jacob_09_Rett_discovery_cases
aCGH
105K CMA OLIGO V7.2
FISH
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
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
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
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
celestino-soper_11_ASD_discovery_cases-11030
NA
M
ASD
NA
NA
5720724
5721042
319
GRCh38
Duplication
No
davis_09_ASD_discovery_cases-AU000803
NA
NA
Non-syndromic ASD
Diagnosis: broad spectrum autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
5685953
5737990
52037
Unknown
Duplication
No
engchuan_15_ASD_discovery_cases-case17007_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4960956
5092224
131269
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5349_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6045831
6088114
42284
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1390302
Autism
5149883
5311569
161687
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-12766.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
6028031
6418032
390002
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case16D0998
5 yrs. 9 mos.
M
Developmental delay/Intellectual disability
5200121
5591408
391288
GRCh38
Duplication
No
jacob_09_Rett_discovery_cases-case1
3
F
Rett syndrome
Diagnosed with variant Rett syndrome. Psychomotor retardation, seizures, no postnatal growth retardation; normal brain MRI, microcephaly; hypotonia, no scoliosis; no postnatal regression; stereotypic facial and limb movements; weight 25th centile, height 50th tile; low ears, mild synophrys, depressed nasal bridge & bulbous nasal tip, thin lips, pointed chin, protruding tongue; gastroesphageal felux, bruxism, scialorrhea.
Mental retardation
5080373
5398534
318000
Unknown
Deletion
Yes
krumm_13_ASD_discovery_cases-case13162.p1
N/A
M
ASD
ASD proband from SSC quad family 13162. SRS score of 90.
Full-scale IQ (FSIQ) score of 74.
5161421
5218760
57340
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11855.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
5878129
5884077
5949
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12766.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6018052
6232942
214891
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13162.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
5161421
5218760
57340
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-MM0225-004
NA
M
ASD
NA
NA
4943848
5092319
148472
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case146442L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
6252047
6267540
15494
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case50681L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
5025973
5052532
26560
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case58769L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
5372914
5384440
11527
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-135
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
5612204
5654519
42316
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
5976917
5978228
1312
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
4993054
4994249
1196
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
5977052
5977992
941
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
5977052
5978138
1087
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
5953495
5956322
2828
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
5873662
5884968
11307
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
3972899
3983933
11035
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12600.p1
7.9
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
4802870
4813046
10177
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12740.p1
4.3
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 113; verbal IQ, 131
5977052
5978228
1177
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
6171844
6183037
11194
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13162.p1
9.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
5117261
5279606
162346
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
3814101
3825610
11510
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case378
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
4920379
5020953
100575
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case379
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
5694456
5785111
90656
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
krumm_15_ASD_discovery_controls-control14242.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
5640702
5649104
8403
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11048.s1
8.1
M
Control (matched sibling)
NA
NA
4407554
4427686
20133
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11054.s1
10.5
M
Control (matched sibling)
NA
NA
5810209
5841345
31137
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
5977052
5977992
941
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11494.s1
19.3
M
Control (matched sibling)
NA
NA
4993054
4994249
1196
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
4993054
4994249
1196
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12175.s1
6.7
F
Control (matched sibling)
NA
NA
5597944
5623811
25868
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12321.s1
9.8
F
Control (matched sibling)
NA
NA
3864719
4451916
587198
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12337.s1
13.3
M
Control (matched sibling)
NA
NA
3972899
3983933
11035
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12661.s1
11.2
F
Control (matched sibling)
NA
NA
5953495
5959053
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12957.s1
13.3
F
Control (matched sibling)
NA
NA
6612823
6614117
1295
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
3815554
3825610
10057
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11030
Unknown
Simplex
NA
FAM208B
davis_09_ASD_discovery_cases-AU000803
Unknown
Unknown
Unknown
ASB13
engchuan_15_ASD_discovery_cases-case17007_1
Unknown
AKR1C2,AKR1C3,AKR1C1
engchuan_15_ASD_discovery_cases-case5349_3
Unknown
RPL32P23,IL2RA
gai_11_ASD_discovery_cases-AU1390302
Inherited
AKR1CL1, AKR1C4
girirajan_13a_ASD_discovery_cases-12766.p1
Unknown
Simplex
Unknown
RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,RBM17,IL2RA,PFKFB3
han_22_ASD/DD/ID_discovery_cases-case16D0998
Unknown
AKR1C4,CALML3,CALML5,TUBAL3,UCN3,AKR1C7P,RPL26P28,CALML3-AS1,ARL4AP3,LINC02561,NET1
jacob_09_Rett_discovery_cases-case1
FISH
Paternal
NA
NA
AKR1C3, AKR1CL1, AKR1C4, UCN3
krumm_13_ASD_discovery_cases-case13162.p1
Maternal
Simplex
Segregated
ARL4AP3,AKR1C8P,AKR1C4
krumm_15_ASD_discovery_cases-case11855.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ANKRD16
krumm_15_ASD_discovery_cases-case12766.p1
1M-Duov3
Paternal
Simplex
Segregated
RPL32P23,RN7SKP78,MIR3155A,MIR3155B,RBM17,IL2RA,PFKFB3
krumm_15_ASD_discovery_cases-case13162.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ARL4AP3,AKR1C8P,AKR1C4
marshall_08_ASD_discovery_cases-MM0225-004
qPCR, qmPCR
Unknown
NA
NA
AKR1C2,AKR1C3,AKR1C1
prasad_12_ASD_discovery_cases-case146442L
Unknown
Unknown
Unknown
PFKFB3
prasad_12_ASD_discovery_cases-case50681L
Unknown
Unknown
Unknown
AKR1C2
prasad_12_ASD_discovery_cases-case58769L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-135
Not tested by qPCR
Unknown
Unknown
Unknown
RN7SL445P,ASB13
sanders_11_ASD_discovery_cases-11439.p1
Both parents
Simplex (quad-proband matched)
Segregated
IL15RA
sanders_11_ASD_discovery_cases-11453.p1
Paternal
Simplex (quad-proband matched)
Segregated
AKR1C2
sanders_11_ASD_discovery_cases-11491.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IL15RA
sanders_11_ASD_discovery_cases-11622.p1
Both parents
Simplex (quad-proband matched)
Not segregated
IL15RA
sanders_11_ASD_discovery_cases-11818.p1
Paternal
Simplex (quad-proband matched)
Segregated
IL15RA
sanders_11_ASD_discovery_cases-11855.p1
Maternal
Simplex (quad-proband matched)
Segregated
ANKRD16
sanders_11_ASD_discovery_cases-12337.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12600.p1
Maternal
Simplex (trio)
NA
AKR1E2
sanders_11_ASD_discovery_cases-12740.p1
Maternal
Simplex (trio)
NA
IL15RA
sanders_11_ASD_discovery_cases-13039.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PFKFB3
sanders_11_ASD_discovery_cases-13162.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ARL4AP3,LINC02561,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P
sanders_11_ASD_discovery_cases-13183.p1
Paternal
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case378
Unknown
Unknown
Unknown
AKR1C2,AKR1C1
yin_16_ASD_discovery_cases-case379
Unknown
Unknown
Unknown
NRBF2P5,FAM208B,GDI2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control14242.s1
Omni2.5-4v1
Paternal
ASB13
sanders_11_ASD_discovery_controls-11048.s1
Unknown
Simplex (quad)
NA
LINC00703
sanders_11_ASD_discovery_controls-11054.s1
Unknown
Simplex (quad)
NA
GDI2
sanders_11_ASD_discovery_controls-11472.s1
Both parents
Simplex (quad)
NA
IL15RA
sanders_11_ASD_discovery_controls-11494.s1
Both parents
Simplex (quad)
NA
AKR1C2
sanders_11_ASD_discovery_controls-12033.s1
Paternal
Simplex (quad)
NA
AKR1C2
sanders_11_ASD_discovery_controls-12175.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12321.s1
Maternal
Simplex (quad)
NA
MIR6078,LINC00702,LINC00703
sanders_11_ASD_discovery_controls-12337.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12661.s1
Paternal
Simplex (quad)
NA
IL15RA
sanders_11_ASD_discovery_controls-12957.s1
Paternal
Simplex (quad)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_controls-13183.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available