14q24.3CNV Type: Deletion-Duplication
Largest CNV size: 916558 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
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
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
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.
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.
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
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
14705
1
0
1
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
55467
8
0
8
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
206000
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
89611
3
1
4
fan_18_DD/ID_discovery_cases
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
3
All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
Range, 4-9 yrs.
33.33% Male
50078
1
0
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
291269
0
4
4
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
4164990
1
1
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
19434
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
25791
2
1
3
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
31281
0
1
1
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
916558
0
1
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
25316
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
58092
1
0
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
825548
6
4
10
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
31279
10
1
11
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
21109
0
1
1
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
30324
0
1
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
63000
1
0
1
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
64096
1
3
4
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
467976
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
225611
2
1
3
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
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
19434
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
65250
2
2
4
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
31281
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
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)
22516
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
825548
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.
31279
11
1
12
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
64096
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent SurePrint G3, Agilent 4x180K, Agilent 8x60K)
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_18_DD/ID_discovery_cases
Chinese
Array SNP, solid phase hybridization
Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
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
None
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
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
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
qPCR
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
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
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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-case1-0388-003
N/A
M
ASD
Case from MSSNG cohort
78558760
78573464
14705
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11152
NA
M
ASD
NA
NA
73528018
73582354
54337
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11156
NA
M
ASD
NA
NA
73528018
73582354
54337
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11168
NA
M
ASD
NA
NA
73537173
73575045
37873
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11197
NA
M
ASD
NA
NA
73528018
73583485
55468
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11353
NA
F
ASD
NA
NA
73528018
73582354
54337
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
73528468
73582354
53887
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11443
NA
M
ASD
NA
NA
73528018
73583485
55468
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11479
NA
M
ASD
NA
NA
73528018
73582354
54337
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300101
N/A
M
Cognitive impairment
Lissencephaly
Cognitive impairment
76603216
76809660
206445
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case3511_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
75631922
75721533
89612
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5398_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73523413
73592548
69136
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5545_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78400183
78458274
58092
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8685_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73532272
73579080
46809
GRCh38
Deletion
No
fan_18_DD/ID_discovery_cases-subject1
4 yrs.
M
Developmental delay/intellectual disability and autistic features
Developmental milestones: moderately delayed gross motor skill development, severely delayed fine motor skill development, extremely severe delays in language development and social communication development, severe delays in adaptivity. Language and communication evaluation: absent speech (language ability equivalent to 6 months). Behavioral/psychiatric evaluation: autistic behaviors. Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, high anterior hairline, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: height normal, weight 90th-97th %ile, head circumference +1 SD ~ +2 SD.
Severe intellectual disability
75246380
75296458
50079
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU075503
Autism
76387066
76562644
175579
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU075503
Autism
77189631
77478622
288992
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU075505
Autism
76387066
76576958
189893
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU075505
Autism
77189631
77480899
291269
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001639
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
73877072
78042422
4165351
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002061
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
75489052
75967965
478914
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12697.p1
N/A
M
ASD
ASD proband from SSC quad family 12697. SRS score of 80.
Full-scale IQ (FSIQ) score of 85.
77907802
77925961
18160
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13533.p1
N/A
M
ASD
ASD proband from SSC quad family 13533. SRS score of 71.
Full-scale IQ (FSIQ) score of 47.
74055583
74075017
19435
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11578.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
73944334
73970125
25792
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13499.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
76762821
76771246
8426
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13533.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
74055583
74075017
19435
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11578.p1
NA
M
ASD
NA
NA
73942810
73974090
31281
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0121-003
NA
M
ASD
NA
NA
76471746
77388304
916559
GRCh38
Duplication
Yes
o'roak_12_ASD_discovery_cases-case13533.p1
NA
M
ASD/Autism
Case also identified with de novo SLCO1C1 missense mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 55
74049701
74075017
25317
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5545_3
NA
M
ASD
NA
NA
78400183
78458274
58092
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case102350
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
78094937
78108997
14061
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case133399
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
73165662
73171458
5797
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47010
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
73530202
73538569
8368
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case53601
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
74176253
74186478
10226
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64122L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
77711322
77728497
17176
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case73891
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
74176253
74186478
10226
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case83554L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
72995001
73092312
97312
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case86312
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
77935309
77995326
60018
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case91085L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
76106627
76932174
825548
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseMM0105-4
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
75758059
76010019
251961
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11255.p1
12.7
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 108; verbal IQ 130
74641587
74644643
3057
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11321.p1
17.7
M
Autism
NA
Full-scale IQ, 12; non-verbal IQ, 17; verbal IQ, 7
77231229
77243660
12432
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11578.p1
5.1
M
ASD
NA
Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
73943702
73974981
31280
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11609.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
78694603
78699265
4663
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11720.p1
8
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 82; verbal IQ, 51
78694603
78699265
4663
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11859.p1
4.5
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
78694603
78699265
4663
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12161.p1
6.3
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 95; verbal IQ, 122
78030244
78033970
3727
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
78423496
78428705
5210
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12429.p1
4.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
73774985
73778904
3920
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12624.p1
7.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 47; verbal IQ, 27
74215670
74224280
8611
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
78423496
78440533
17038
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
73534747
73555855
21109
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
73534747
73565070
30324
GRCh38
Duplication
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21) and some autistic behaviors, but given overall diagnosis of non-ASD (sister has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
78397720
78460659
62940
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case466
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
73564015
73610275
46261
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case467
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
74778123
74824230
46108
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case468
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
77925041
77985771
60731
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case469
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
78167419
78231514
64096
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3935301
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
78570853
79038829
467977
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU4093301
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
78761658
79051345
289688
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU4093302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
78761919
79051345
289427
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU4093304
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
78761919
79051345
289427
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-control110036021632_
N/A
N/A
Control
No previous psychiatric history
75709204
75782761
73558
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB910960_1007873735
N/A
N/A
Control
No previous psychiatric history
75017109
75065046
47938
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
N/A
N/A
Control
No previous psychiatric history
75474167
75700138
225972
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control13533.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13533. SRS score of 38.
74055583
74075017
19435
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11578.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
73944334
73974985
30652
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13123.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
77673811
77739061
65251
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13499.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
76762821
76771246
8426
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13533.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
74055583
74075017
19435
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11578.s1
NA
M
Control
NA
NA
73942810
73974090
31281
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41452A
N/A
M
Control
NIMH Control (NIMH ID 70653)
73874021
73896536
22516
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11032.s1
3.7
M
Control (matched sibling)
NA
NA
73505682
73506660
979
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11148.s1
12.2
F
Control (matched sibling)
NA
NA
78694603
78699265
4663
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
73820516
73829131
8616
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
73943702
73974981
31280
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11720.s1
11.6
F
Control (matched sibling)
NA
NA
78694603
78699265
4663
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12057.s1
14.3
F
Control (matched sibling)
NA
NA
78694603
78699265
4663
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
78694603
78699265
4663
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12456.s1
12
M
Control (matched sibling)
NA
NA
73774985
73778904
3920
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12624.s1
4.1
F
Control (matched sibling)
NA
NA
74215670
74224280
8611
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12879.s1
6.3
M
Control (matched sibling)
NA
NA
73774985
73778904
3920
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13097.s1
12.4
F
Control (matched sibling)
NA
NA
78423496
78440533
17038
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13120.s1
6.2
M
Control (matched sibling)
NA
NA
73774985
73778904
3920
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case1-0388-003
No validation step reported
Maternal
NRXN3
celestino-soper_11_ASD_discovery_cases-11152
aCGH (Agilent 4x180K or 8x60K)
Unknown
Simplex
NA
ACOT1,NT5CP2,ACOT2,NT5CP1,HEATR4
celestino-soper_11_ASD_discovery_cases-11156
aCGH (Agilent 4x180K or 8x60K)
Unknown
Simplex
NA
ACOT1,NT5CP2,ACOT2,NT5CP1,HEATR4
celestino-soper_11_ASD_discovery_cases-11168
Solid phase hybridization (Illumina 1M SNP)
Maternal
Simplex
NA
ACOT1,NT5CP2,ACOT2,NT5CP1,HEATR4
celestino-soper_11_ASD_discovery_cases-11197
aCGH (Agilent 4x180K or 8x60K)
Unknown
Simplex
NA
ACOT1,NT5CP2,ACOT2,NT5CP1,HEATR4
celestino-soper_11_ASD_discovery_cases-11353
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent 4x180K or 8x60K)
Unknown
Simplex
NA
ACOT1,NT5CP2,ACOT2,NT5CP1,HEATR4
celestino-soper_11_ASD_discovery_cases-11399
aCGH (Agilent SurePrint G3), aCGH (Agilent 4x180K or 8x60K)
Unknown
Simplex
NA
ACOT1,NT5CP2,ACOT2,NT5CP1,HEATR4
celestino-soper_11_ASD_discovery_cases-11443
aCGH (Agilent 4x180K or 8x60K)
Unknown
Simplex
NA
ACOT1,NT5CP2,ACOT2,NT5CP1,HEATR4
celestino-soper_11_ASD_discovery_cases-11479
aCGH (Agilent 4x180K or 8x60K)
Unknown
Simplex
NA
ACOT1,NT5CP2,ACOT2,NT5CP1,HEATR4
digregorio_17_DD/ID_discovery_cases-DECIPHER_300101
qPCR
Paternal
CYCSP1,RPSAP3,VASH1-AS1,VASH1,ANGEL1
engchuan_15_ASD_discovery_cases-case3511_3
Unknown
ERG28,FLVCR2,TTLL5
engchuan_15_ASD_discovery_cases-case5398_3
Unknown
ACOT1,NT5CP2,ACOT2,NT5CP1,ACOT4,HEATR4
engchuan_15_ASD_discovery_cases-case5545_3
Unknown
NRXN3
engchuan_15_ASD_discovery_cases-case8685_201
Unknown
ACOT1,NT5CP2,ACOT2,NT5CP1,HEATR4
fan_18_DD/ID_discovery_cases-subject1
Unknown
Unknown
FOS,DPPA5P4,LINC01220
gai_11_ASD_replication_cases-AU075503
Inherited
C14orf166B, C14orf4
gai_11_ASD_replication_cases-AU075503
Inherited
ALKBH1, C14orf156, SNW1, C14orf178, ADCK1
gai_11_ASD_replication_cases-AU075505
Inherited
C14orf166B, C14orf4
gai_11_ASD_replication_cases-AU075505
Inherited
ALKBH1, C14orf156, SNW1, C14orf178, ADCK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001639
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL530P,SUB1P2,RPS2P2,MIR4709,RAP1AP,ISCA2,PGF,RNU6-689P,HIF1AP1,RNU4ATAC14P,FOS,DPPA5P4,LINC01220,RNA5SP387,ERG28,TGFB3-AS1,CYCSP1,RPSAP3,VASH1-AS1,RPL22P2,RN7SKP17,LINC01629,RN7SL356P,IRF2BPL,FAM204DP,MIR1260A,GSTZ1,RN7SL587P,COX6CP11,RPL21P10,ZMYND19P1,C14orf178,PTGR2,FAM161B,COQ6,ENTPD5,ALDH6A1,VSX2,ABCD4,SYNDIG1L,NPC2,FCF1,PROX2,DLST,RPS6KL1,EIF2B2,MLH3,ACYP1,ZC2HC1C,TMED10,JDP2,BATF,TGFB3,VASH1,LRRC74A,LINC02288,CIPC,ZDHHC22,NGB,POMT2,TMED8,SAMD15,NOXRED1,VIPAS39,ISM2,ALKBH1,ZNF410,BBOF1,LIN52,VRTN,LTBP2,AREL1,YLPM1,NEK9,FLVCR2,TTLL5,IFT43,GPATCH2L,ESRRB,ANGEL1,LINC02289,TMEM63C,AHSA1,SLIRP,SNW1,ADCK1,SPTLC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002061
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNA5SP387,ERG28,BATF,TGFB3,FLVCR2,TTLL5,IFT43
krumm_13_ASD_discovery_cases-case12697.p1
Maternal
Simplex
Segregated
ADCK1
krumm_13_ASD_discovery_cases-case13533.p1
Paternal
Simplex
Not segregated
ALDH6A1,BBOF1
krumm_15_ASD_discovery_cases-case11578.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
FAM161B,COQ6,ENTPD5
krumm_15_ASD_discovery_cases-case13499.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
VASH1
krumm_15_ASD_discovery_cases-case13533.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ALDH6A1,BBOF1
levy_11_ASD_discovery_cases-11578.p1
Paternal
Simplex
Not segregated
FAM161B,COQ6,ENTPD5
marshall_08_ASD_discovery_cases-SK0121-003
qPCR, qmPCR
Unknown
NA
NA
CYCSP1,RPSAP3,VASH1-AS1,RPL22P2,RN7SKP17,LINC01629,RN7SL356P,IRF2BPL,FAM204DP,MIR1260A,GSTZ1,VASH1,LRRC74A,LINC02288,CIPC,ZDHHC22,NGB,POMT2,TMED8,SAMD15,ESRRB,ANGEL1,LINC02289,TMEM63C
o'roak_12_ASD_discovery_cases-case13533.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
ALDH6A1,BBOF1
pinto_10_ASD_discovery_cases-case5545_3
Agilent1M
maternal
NA
NA
NRXN3
prasad_12_ASD_discovery_cases-case102350
qPCR
Maternal
Unknown
Unknown
NRXN3
prasad_12_ASD_discovery_cases-case133399
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case47010
Unknown
Unknown
Unknown
ENTPD5
prasad_12_ASD_discovery_cases-case53601
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case64122L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case73891
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case83554L
Unknown
Unknown
Unknown
HEATR4,C14orf169,NUMB,ACOT1
prasad_12_ASD_discovery_cases-case86312
Unknown
Unknown
Unknown
NRXN3
prasad_12_ASD_discovery_cases-case91085L
Unknown
Unknown
Unknown
MIR1260,TMEM63C,SAMD15,NGB,VASH1,KIAA1737,GSTZ1,IRF2BPL,TMED8,C14orf148,C14orf166B,ZDHHC22,POMT2,ANGEL1
prasad_12_ASD_discovery_cases-caseMM0105-4
Unknown
Unknown
Unknown
ESRRB
sanders_11_ASD_discovery_cases-11255.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11321.p1
Paternal
Simplex (quad-proband matched)
Segregated
TMEM63C
sanders_11_ASD_discovery_cases-11578.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FAM161B,COQ6,ENTPD5
sanders_11_ASD_discovery_cases-11609.p1
Maternal
Simplex (trio)
NA
NRXN3
sanders_11_ASD_discovery_cases-11720.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NRXN3
sanders_11_ASD_discovery_cases-11859.p1
Maternal
Simplex (trio)
NA
NRXN3
sanders_11_ASD_discovery_cases-12161.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12260.p1
Unknown
Simplex (trio)
NA
NRXN3
sanders_11_ASD_discovery_cases-12429.p1
Paternal
Simplex (trio)
NA
ELMSAN1
sanders_11_ASD_discovery_cases-12624.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13097.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NRXN3
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
ACOT1,NT5CP2,HEATR4
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
ACOT1,NT5CP2,HEATR4
vaags_11_ASD_discovery_cases-probandF1-003
qPCR
Maternal
Simplex
Not segregated
NRXN3
yin_16_ASD_discovery_cases-case466
Unknown
Unknown
Unknown
ACOT2,NT5CP1,ACOT4
yin_16_ASD_discovery_cases-case467
Unknown
Unknown
Unknown
YLPM1
yin_16_ASD_discovery_cases-case468
Unknown
Unknown
Unknown
ADCK1
yin_16_ASD_discovery_cases-case469
Unknown
Unknown
Unknown
RNA5SP388,RPS26P48,NRXN3
yuen_17_ASD_discovery_cases-caseAU3935301
Not available
Unknown
Simplex
Unknown
NRXN3
yuen_17_ASD_discovery_cases-caseAU4093301
Not available
Paternal
Multiplex
Possibly segregated
NRXN3
yuen_17_ASD_discovery_cases-caseAU4093302
Not available
Paternal
Multiplex
Possibly segregated
NRXN3
yuen_17_ASD_discovery_cases-caseAU4093304
Not available
Paternal
Multiplex
Possibly segregated
NRXN3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036021632_
Unknown
TTLL5
engchuan_15_ASD_discovery_controls-controlB910960_1007873735
Unknown
RNU6-689P,MLH3,ACYP1,ZC2HC1C
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
Unknown
RNA5SP387,ERG28,BATF,FLVCR2,TTLL5
krumm_13_ASD_discovery_controls-control13533.s1
Paternal
Simplex
ALDH6A1,BBOF1
krumm_15_ASD_discovery_controls-control11578.s1
Illumina 1M
Paternal
FAM161B,COQ6,ENTPD5
krumm_15_ASD_discovery_controls-control13123.s1
1M-Duov3
Paternal
RPL21P10,ZMYND19P1,ALKBH1,SLIRP,SNW1
krumm_15_ASD_discovery_controls-control13499.s1
1M-Duov3
Paternal
VASH1
krumm_15_ASD_discovery_controls-control13533.s1
1M-Duov3
Paternal
ALDH6A1,BBOF1
levy_11_ASD_discovery_controls-11578.s1
Paternal
Simplex
NA
FAM161B,COQ6,ENTPD5
poultney_13_ASD_discovery_controls-control05C41452A
Unknown
PTGR2,ZNF410
sanders_11_ASD_discovery_controls-11032.s1
Maternal
Simplex (quad)
NA
HEATR4
sanders_11_ASD_discovery_controls-11148.s1
Both parents
Simplex (quad)
NA
NRXN3
sanders_11_ASD_discovery_controls-11399.s1
Paternal
Simplex (quad)
NA
LINC02274
sanders_11_ASD_discovery_controls-11578.s1
Paternal
Simplex (quad)
NA
FAM161B,COQ6,ENTPD5
sanders_11_ASD_discovery_controls-11720.s1
Maternal
Simplex (quad)
NA
NRXN3
sanders_11_ASD_discovery_controls-12057.s1
Paternal
Simplex (quad)
NA
NRXN3
sanders_11_ASD_discovery_controls-12235.s1
Maternal
Simplex (quad)
NA
NRXN3
sanders_11_ASD_discovery_controls-12456.s1
Paternal
Simplex (quad)
NA
ELMSAN1
sanders_11_ASD_discovery_controls-12624.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12879.s1
Maternal
Simplex (quad)
NA
ELMSAN1
sanders_11_ASD_discovery_controls-13097.s1
Unknown
Simplex (quad)
NA
NRXN3
sanders_11_ASD_discovery_controls-13120.s1
Maternal
Simplex (quad)
NA
ELMSAN1
No Animal Model Data Available