17p13.2CNV Type: Deletion-Duplication
Largest CNV size: 3000000 bp
Statistics Box:
Number of Reports: 20
Number of Reports: 20
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
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bowling_17_DD/ID_discovery_cases
Individuals affected by developmental delay and/or intellectual disability and enrolled at North Alabama Children's Specialists (Huntsville, Alabama, USA)
371
Developmental delay (DD) and/or intellectual disability (ID); seizures in 45.3% of cases, ASD in 25.6% of cases
Average age of 10.56 yrs. (range: 2-54 yrs.)
57.7% Male
337021
0
1
1
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
3000000
1
0
1
curry_13_DD/ID/ASD_discovery_cases
Individuals from 21 families containing 17p13.3 duplications with primary clinical diagnosis (out of 34 individuals), ascertained personally or by query of Signature Genomics, GeneDX, and DECIPHER databases
30
Common diagnoses/phenotypic feaures included developmental delay/intellectual disability, ASD, MCA, and dysmorphic features
Age range, fetus-adult
19 Male, 10 Female, 1 N/A
454000
0
3
3
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
171000
1
1
2
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
428021
3
2
5
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
699886
0
3
3
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
103659
2
1
3
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
42839
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
410997
10
1
11
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
289361
1
2
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
162276
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
54000
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
168931
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
422188
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
170502
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
10965
1
1
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
174711
4
1
5
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
170501
14
3
17
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
7993
1
0
1
yuan_15_DD_discovery_cases
Subjects with genomic rearrangements that simultaneously duplicate PMP22 and RAI1 from an initial cohort of 127 subjects with proximal 17p duplications encompassing RAI1
23
Clinical records of 17/23 subjects were available for review; most consistently reported clinical features were feeding difficulties, global developmental delay, behavioral difficulties, and language delay.
N/A
N/A
320703
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
654
1
0
1
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
38147
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
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
0
0
0
0
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
42839
2
0
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
508552
7
2
9
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
212518
0
2
2
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
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.
17722
1
1
2
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)
47620
1
0
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)
174711
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.
115991
10
2
12
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bowling_17_DD/ID_discovery_cases
N/A
CMA, WGS
Microarray platform N/A, WGS platform Illumina HiSeq Xs
None
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
curry_13_DD/ID/ASD_discovery_cases
80% Caucasian
aCGH
Agilent SignatureChip OS (105K or 135K), 244K, 660K-Quad, or 105K; Oxford Gene Technology (OGT) 105K; Genome Dx 105K; Signature Genomics Laboratories BAC; Genzyme Clarisure; UNC SGLSelect 105K
None
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
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
yuan_15_DD_discovery_cases
N/A
aCGH
Agilent 4x180K, 8x60K arrays
FISH, long-range PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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
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
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
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
bowling_17_DD/ID_discovery_cases-case00330-C
N/A
N/A
ASD and developmental delay
Developmental delay (mild); Autism spectrum disorder; Speech delay; Memory and attention issues; Very low processing speed; Deficits in fine motor skills; Anxiety; Tantrums; Joint laxity; Multicystic left kidney; Cardiology evaluation: normal
4420143
4757163
337021
GRCh38
Duplication
No
bremer_11_ASD_discovery_cases-case17
19
M
ASD
Syndromic ASD, sporadic case
MR (IQ<70)
4649956
7655957
3006002
GRCh38
Deletion
Yes
curry_13_DD/ID/ASD_discovery_cases-patient19
6 yrs.
M
ADHD and learning disabilities
Presentation: failure-to-thrive, gastroesophageal reflux. Developmental and neurological features: ADHD, behavior problems, hypotonia. Brain imaging abnormalities: none reported. Rare phenotypes and other health problems: failure-to-thrive, gastroesophageal reflux, gastrostomy tube, pneumonia, recurrent bilateral otitis media. Dysmorphic facial features: malar hypoplasia. Growth parameters: birth weight 25th %ile; weight 25th %ile, height 25th %ile, OFC 50th %ile. Ethnicity: Caucasian.
Learning disabilties
4163960
4618030
454071
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient21a1
Fetus
N/A
MCA
Presentation: prenatal diagnosis by ventriculomegaly, endocardial fibroelastosis, choroid plexus cyst. Rare phenotypes and other health problems: endocardial fibroelastosis. Ethnicity: Caucasian. Fetus terminated. 17p13.3 and 17p13.2 duplications inherited from mother with dysmorphic facial features (curry_13_DD/ID/ASD_discovery_cases-patient21a2).
4178155
4586283
408129
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient21a2
27 yrs.
F
Dysmorphic features
Presentation: normal. Developmental and neurological features: none reported. Brain imaging abnormalities: none reported. Rare phenotypes and other health problems: none reported. Dysmorphic facial features: facial gestalt, long face, prominent jaw, pointed chin, small mouth. Ethnicity: Caucasian. 17p13.3 and 17p13.2 duplications inherited from phenotypically normal mother.
Normal
4178155
4586283
408129
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300073
N/A
F
Developmental delay/intellectual disability
5485414
5656690
171277
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300149
N/A
F
Cognitive impairment
Cognitive impairment
5332120
5461149
129030
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14200_3240
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6194574
6227773
33200
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14235_2490
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6194574
6227773
33200
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20149_1623021
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4190646
4413183
222538
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4242_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5821793
6249814
428022
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5356_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6729145
6899646
170502
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002003
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4201600
4574195
372596
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002718
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4141725
4472701
330977
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004823
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4141725
4841701
699977
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1970
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
4329942
4433600
103659
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case2953
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
3505233
3528614
23382
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case2954
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
3508880
3528614
19735
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case11532.p1
N/A
M
ASD
ASD proband from SSC quad family 11532. SRS score of 77.
Full-scale IQ (FSIQ) score of 59.
3615336
3658175
42840
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case13271.p1
N/A
M
ASD
ASD proband from SSC quad family 13271. SRS score of 90.
Full-scale IQ (FSIQ) score of 60.
3647443
3648931
1489
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11347.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3621236
3655101
33866
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11532.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3610559
3658175
47617
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11707.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
4102316
4513312
410997
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12729.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3577125
3580527
3403
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13067.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
3615336
3658175
42840
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13604.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3610559
3658175
47617
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13799.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3494349
3524363
30015
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13844.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
4433967
4453205
19239
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13931.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
4551879
4560521
8643
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14093.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3621236
3660369
39134
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14432.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3610559
3658175
47617
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11211.p1
NA
M
ASD
NA
NA
4366269
4655629
289361
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11489.p1
NA
M
ASD
NA
NA
6726291
6901499
175209
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11707.p1
NA
M
ASD
NA
NA
4097305
4302102
204798
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0085-004
NA
M
ASD
NA
NA
3986549
4148824
162276
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam1174Proband10800
N/A
M
ASD
Additional clinical profile info N/A
ID
4422180
4476283
54104
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250378
N/A
M
Autism and DD/ID
Database: DECIPHER. Indication for study: Autism, cranium, hyptonia, low-set ears, intellectual disability/developmental delay, tall stature
Developmental delay/intellectual disability
6052389
6221320
168932
GRCh38
Duplication
N/A
o'roak_12_ASD_discovery_cases-case11707.p1
NA
M
ASD/Autism
Case also identified with de novo PDCD1 frameshift mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 23
4096608
4518795
422188
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5356_3
NA
F
ASD
NA
NA
6729145
6899646
170502
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI3174A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
5130366
5138275
7910
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0200A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU026503; NDAR ID NDAR_INVHM087LHU)
3483497
3494461
10965
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case161582L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
6673056
6695979
22924
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case44644
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
4617476
4629828
12353
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64374L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
4617476
4629828
12353
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64714L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
4617476
4629828
12353
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case90188
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
6571130
6745840
174711
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11069.p1
9.5
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
4315049
4345104
30056
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11069.p1
9.5
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
5515479
5559485
44007
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11424.p1
6.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 97; verbal IQ, 90
6393400
6408236
14837
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11489.p1
10.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
6729145
6899646
170502
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11707.p1
13.5
M
Autism
NA
Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
4402804
4518795
115992
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11781.p1
7
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
4419999
4423065
3067
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
6194574
6227773
33200
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11857.p1
6.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 101; verbal IQ, 96
6396375
6408236
11862
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12301.p1
13.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12301.p1
13.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
6057529
6058325
797
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12587.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13218.p1
6.9
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
5422468
5430922
8455
GRCh38
Deletion
No
woodbury-smith_14_ASD_discovery_cases-case15
N/A
M
ASD
Family history: broad autism phenotype (BAP)-defined father.
3798089
3806081
7993
GRCh38
Deletion
No
yuan_15_DD_discovery_cases-caseBAB2337
11 mos.
M
Developmental delay
Infancy: failure to thrive, infantile hypotonia; feeding difficulties not reported. Development: developmental delay; age at walking, behavioral difficulties, and language delay not reported. Clinical neuropathy/exercise intolerance not reported. Sleep disturbance not reported. Physical features: bilateral talipes equinovarus; facial dysmorphism, unusual gait/dropped foot, distal extremity weakness/atrophy, sensory loss, and reduced/absent ankle deep tendon reflexes not reported. Studies and imaging: bicuspid aortic valve; MRI brain abnormalities, syringomyelia, renal abnormalities, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.Case CNV pattern: complex genomic rearrangment (deletion1-normal-copy segment-duplication1-normal-copy segment-deletion2-normal-copy segment-duplication2-triplication1-duplication2-triplication2-duplication2).
6097761
6418463
320703
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC05257
N/A
F
Control
Control from SSC cohort
4531158
4531812
655
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB133359_1007842669
N/A
N/A
Control
No previous psychiatric history
6194574
6227773
33200
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB701059_1007854369
N/A
N/A
Control
No previous psychiatric history
6194574
6232721
38148
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900122_900122
N/A
N/A
Control
No previous psychiatric history
6386299
6416464
30166
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11285.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11285. SRS score of 44.
3615336
3658175
42840
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13196.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13196. SRS score of 55.
3554731
3583430
28700
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11285.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3610559
3658175
47617
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12091.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3621236
3648931
27696
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12729.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3577125
3580527
3403
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13080.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
4102316
4174056
71741
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13196.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3566814
3588367
21554
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13799.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3494349
3524363
30015
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13931.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
4552124
4593171
41048
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14012.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
4051970
4560521
508552
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14093.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3621236
3656795
35560
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11707.s1
NA
F
Control
NA
NA
4097305
4302102
204798
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11800.s1
NA
M
Control
NA
NA
4588213
4800521
212309
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27090
Control
6671647
6689368
17722
Unknown
Duplication
nord_11_ASD_discovery_controls-04C27518
Control
4616619
4630801
14183
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C36900A
N/A
F
Control
NIMH Control (NIMH ID 50026)
3610558
3658177
47620
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11216.s1
6.4
M
Control (matched sibling)
NA
NA
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11707.s1
15.1
F
Control (matched sibling)
NA
NA
4402804
4518795
115992
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
6916430
6936297
19868
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
6194574
6227773
33200
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12301.s1
16.8
F
Control (matched sibling)
NA
NA
6203166
6227773
24608
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12301.s1
16.8
F
Control (matched sibling)
NA
NA
6057529
6058325
797
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12784.s1
8.4
M
Control (matched sibling)
NA
NA
6194574
6232520
37947
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13080.s1
6.8
F
Control (matched sibling)
NA
NA
4098618
4174190
75573
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bowling_17_DD/ID_discovery_cases-case00330-C
De novo
Likely segregated
GGT6,TXNP4,LINC01996,RNU6-955P,MED11,ZMYND15,SPNS2,MYBBP1A,ALOX15,PELP1,CXCL16,SPNS3,SMTNL2,ARRB2
bremer_11_ASD_discovery_cases-case17
MLPA, FISH
Unknown
NA
NA
MED11,ZMYND15,TM4SF5,VMO1,GLTPD2,PSMB6,ATP6V0CP1,RN7SL784P,C17orf107,GP1BA,SLC25A11,RNF167,ENO3,MIR6864,MIR6865,ZNF594,RNU6-1264P,BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,SLC35G6,TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,SAT2,PELP1,CXCL16,PLD2,CHRNE,PFN1,SPAG7,INCA1,KIF1C,SLC52A1,ZFP3,USP6,SCIMP,RPAIN,C1QBP,DHX33,DERL2,MIS12,WSCD1,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,SHBG,ATP1B2,ARRB2,MINK1,CAMTA2,ZNF232,RABEP1,NUP88,NLRP1,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,DLG4,ZBTB4,FXR2,ACAP1
curry_13_DD/ID/ASD_discovery_cases-patient19
De novo
Unknown
Possibly segregated
RYKP1,MFSD1P1,RN7SL774P,GGT6,TXNP4,LINC01996,CYB5D2,SPNS2,MYBBP1A,UBE2G1,SPNS3,SMTNL2,ANKFY1
curry_13_DD/ID/ASD_discovery_cases-patient21a1
Maternal
Unknown
Unknown
RYKP1,MFSD1P1,RN7SL774P,GGT6,TXNP4,CYB5D2,SPNS2,MYBBP1A,UBE2G1,SPNS3,SMTNL2,ANKFY1
curry_13_DD/ID/ASD_discovery_cases-patient21a2
Maternal
Unknown
Unknown
RYKP1,MFSD1P1,RN7SL774P,GGT6,TXNP4,CYB5D2,SPNS2,MYBBP1A,UBE2G1,SPNS3,SMTNL2,ANKFY1
digregorio_17_DD/ID_discovery_cases-DECIPHER_300073
Paternal
DERL2,MIS12,NLRP1
digregorio_17_DD/ID_discovery_cases-DECIPHER_300149
qPCR
Unknown
RPAIN,C1QBP,DHX33,RABEP1,NUP88
engchuan_15_ASD_discovery_cases-case14200_3240
Unknown
RNU6-1264P
engchuan_15_ASD_discovery_cases-case14235_2490
Unknown
RNU6-1264P
engchuan_15_ASD_discovery_cases-case20149_1623021
Unknown
RYKP1,MFSD1P1,RN7SL774P,UBE2G1,ANKFY1
engchuan_15_ASD_discovery_cases-case4242_1
Unknown
RNU6-1264P,WSCD1
engchuan_15_ASD_discovery_cases-case5356_3
Unknown
RPL23AP73,PRAL,XAF1,FBXO39,TEKT1,ALOX12P2,ALOX12-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002003
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RYKP1,MFSD1P1,RN7SL774P,GGT6,TXNP4,SPNS2,MYBBP1A,UBE2G1,SPNS3,ANKFY1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002718
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RYKP1,MFSD1P1,RN7SL774P,CYB5D2,ZZEF1,UBE2G1,SPNS3,ANKFY1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004823
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RYKP1,MFSD1P1,RN7SL774P,GGT6,TXNP4,LINC01996,RNU6-955P,MED11,ZMYND15,TM4SF5,VMO1,GLTPD2,PSMB6,CYB5D2,SPNS2,MYBBP1A,ALOX15,PELP1,CXCL16,PLD2,ZZEF1,UBE2G1,SPNS3,SMTNL2,ARRB2,MINK1,ANKFY1
kanduri_15_ASD_discovery_cases-case1970
De novo
Unknown
Unknown
SPNS2,SPNS3
kanduri_15_ASD_discovery_cases-case2953
De novo
Unknown
Unknown
SHPK
kanduri_15_ASD_discovery_cases-case2954
De novo
Unknown
Unknown
SHPK
krumm_13_ASD_discovery_cases-case11532.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
SHPK,CTNS
krumm_13_ASD_discovery_cases-case13271.p1
Maternal
Simplex
Not segregated
CTNS
krumm_15_ASD_discovery_cases-case11347.p1
Illumina 1M
Paternal
Simplex
Segregated
SHPK,CTNS
krumm_15_ASD_discovery_cases-case11532.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SHPK,CTNS
krumm_15_ASD_discovery_cases-case11707.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RYKP1,MFSD1P1,RN7SL774P,CYB5D2,SPNS2,ZZEF1,UBE2G1,SPNS3,ANKFY1
krumm_15_ASD_discovery_cases-case12729.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
TRPV1
krumm_15_ASD_discovery_cases-case13067.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SHPK,CTNS
krumm_15_ASD_discovery_cases-case13604.p1
1M-Duov3
Maternal
Simplex
Segregated
SHPK,CTNS
krumm_15_ASD_discovery_cases-case13799.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SPATA22,ASPA,TRPV3
krumm_15_ASD_discovery_cases-case13844.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
SPNS3
krumm_15_ASD_discovery_cases-case13931.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
GGT6,MYBBP1A
krumm_15_ASD_discovery_cases-case14093.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SHPK,CTNS
krumm_15_ASD_discovery_cases-case14432.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
SHPK,CTNS
levy_11_ASD_discovery_cases-11211.p1
Paternal
Simplex
Segregated
GGT6,TXNP4,LINC01996,RNU6-955P,SPNS2,MYBBP1A,ALOX15,UBE2G1,SPNS3,SMTNL2
levy_11_ASD_discovery_cases-11489.p1
Paternal
Simplex
Segregated
RPL23AP73,PRAL,XAF1,FBXO39,TEKT1,ALOX12P2,ALOX12-AS1
levy_11_ASD_discovery_cases-11707.p1
Paternal
Simplex
Not segregated
RYKP1,MFSD1P1,CYB5D2,ZZEF1,UBE2G1,ANKFY1
marshall_08_ASD_discovery_cases-SK0085-004
qPCR, qmPCR
Unknown
NA
NA
RNA5SP434,CYB5D2,ZZEF1
nava_13_ASD_discovery_cases-Fam1174Proband10800
Unknown
Simplex
Unknown
SPNS3
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250378
Unknown
Unknown
Unknown
RNU6-1264P,WSCD1
o'roak_12_ASD_discovery_cases-case11707.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
RYKP1,MFSD1P1,RN7SL774P,CYB5D2,SPNS2,ZZEF1,UBE2G1,SPNS3,ANKFY1
pinto_10_ASD_discovery_cases-case5356_3
Agilent1M
paternal
NA
NA
RPL23AP73,PRAL,XAF1,FBXO39,TEKT1,ALOX12P2,ALOX12-AS1
poultney_13_ASD_discovery_cases-case04HI3174A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
USP6
poultney_13_ASD_discovery_cases-case98HI0200A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SPATA22,ASPA
prasad_12_ASD_discovery_cases-case161582L
Unknown
Unknown
Unknown
TEKT1
prasad_12_ASD_discovery_cases-case44644
Unknown
Multiplex
Unknown
TM4SF5
prasad_12_ASD_discovery_cases-case64374L
Unknown
Unknown
Unknown
TM4SF5
prasad_12_ASD_discovery_cases-case64714L
Unknown
Unknown
Unknown
TM4SF5
prasad_12_ASD_discovery_cases-case90188
Unknown
Unknown
Unknown
TEKT1,ALOX12P2,XAF1,FBXO39
sanders_11_ASD_discovery_cases-11041.p1
Paternal
Simplex (quad-proband matched)
Segregated
RNU6-1264P
sanders_11_ASD_discovery_cases-11069.p1
Maternal
Simplex (quad-proband matched)
Segregated
UBE2G1
sanders_11_ASD_discovery_cases-11069.p1
Unknown
Simplex (quad-proband matched)
Segregated
NLRP1
sanders_11_ASD_discovery_cases-11129.p1
Paternal
Simplex (trio)
NA
RNU6-1264P
sanders_11_ASD_discovery_cases-11424.p1
Maternal
Simplex (quad-proband matched)
Segregated
AIPL1
sanders_11_ASD_discovery_cases-11489.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPL23AP73,PRAL,XAF1,FBXO39,TEKT1,ALOX12P2,ALOX12-AS1
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-1264P
sanders_11_ASD_discovery_cases-11707.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SPNS2,SPNS3
sanders_11_ASD_discovery_cases-11781.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11846.p1
Maternal
Simplex (trio)
NA
RNU6-1264P
sanders_11_ASD_discovery_cases-11857.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AIPL1
sanders_11_ASD_discovery_cases-12266.p1
Maternal
Simplex (trio)
NA
RNU6-1264P
sanders_11_ASD_discovery_cases-12301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-1264P
sanders_11_ASD_discovery_cases-12301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
WSCD1
sanders_11_ASD_discovery_cases-12587.p1
Paternal
Simplex (trio)
NA
RNU6-1264P
sanders_11_ASD_discovery_cases-13195.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-1264P
sanders_11_ASD_discovery_cases-13218.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
RPAIN
woodbury-smith_14_ASD_discovery_cases-case15
Paternal
Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
Unknown
NCBP3,ITGAE
yuan_15_DD_discovery_cases-caseBAB2337
FISH, Long-range PCR
De novo
RNU6-1264P,BTF3P14,WSCD1,AIPL1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC05257
PCR
Paternal
SPNS2
engchuan_15_ASD_discovery_controls-controlB133359_1007842669
Unknown
RNU6-1264P
engchuan_15_ASD_discovery_controls-controlB701059_1007854369
Unknown
RNU6-1264P
engchuan_15_ASD_discovery_controls-controlHABC_900122_900122
Unknown
AIPL1
krumm_13_ASD_discovery_controls-control11285.s1
Maternal
Simplex
SHPK,CTNS
krumm_13_ASD_discovery_controls-control13196.s1
Paternal
Simplex
TRPV1,TRPV3
krumm_15_ASD_discovery_controls-control11285.s1
Illumina 1M
Maternal
SHPK,CTNS
krumm_15_ASD_discovery_controls-control12091.s1
Illumina 1MDuo
Maternal
SHPK,CTNS
krumm_15_ASD_discovery_controls-control12729.s1
Illumina 1MDuo
Paternal
TRPV1
krumm_15_ASD_discovery_controls-control13080.s1
Illumina 1MDuo
Paternal
CYB5D2,ZZEF1,ANKFY1
krumm_15_ASD_discovery_controls-control13196.s1
Illumina 1MDuo
Paternal
TRPV1
krumm_15_ASD_discovery_controls-control13799.s1
Omni2.5-4v1
Maternal
SPATA22,ASPA,TRPV3
krumm_15_ASD_discovery_controls-control13931.s1
Omni2.5-4v1
Maternal
GGT6,TXNP4,MYBBP1A,SMTNL2
krumm_15_ASD_discovery_controls-control14012.s1
Omni2.5-4v1
Maternal
RNA5SP434,RYKP1,MFSD1P1,RN7SL774P,GGT6,CYB5D2,SPNS2,MYBBP1A,ZZEF1,UBE2G1,SPNS3,ANKFY1
krumm_15_ASD_discovery_controls-control14093.s1
Omni2.5-4v1
Maternal
SHPK,CTNS
levy_11_ASD_discovery_controls-11707.s1
Paternal
Simplex
NA
RYKP1,MFSD1P1,CYB5D2,ZZEF1,UBE2G1,ANKFY1
levy_11_ASD_discovery_controls-11800.s1
Paternal
Simplex
NA
LINC01996,RNU6-955P,MED11,ZMYND15,TM4SF5,VMO1,GLTPD2,PSMB6,ALOX15,PELP1,CXCL16,SMTNL2,ARRB2
nord_11_ASD_discovery_controls-04C27090
TEKT1
nord_11_ASD_discovery_controls-04C27518
TM4SF5
poultney_13_ASD_discovery_controls-control04C36900A
Unknown
SHPK,CTNS
sanders_11_ASD_discovery_controls-11073.s1
Paternal
Simplex (quad)
NA
RNU6-1264P
sanders_11_ASD_discovery_controls-11216.s1
Maternal
Simplex (quad)
NA
RNU6-1264P
sanders_11_ASD_discovery_controls-11564.s1
Maternal
Simplex (quad)
NA
RNU6-1264P
sanders_11_ASD_discovery_controls-11567.s1
Paternal
Simplex (quad)
NA
RNU6-1264P
sanders_11_ASD_discovery_controls-11707.s1
Paternal
Simplex (quad)
NA
SPNS2,SPNS3
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
RNU6-1264P
sanders_11_ASD_discovery_controls-12052.s1
Maternal
Simplex (quad)
NA
ALOX12P2,ALOX12-AS1
sanders_11_ASD_discovery_controls-12117.s1
Maternal
Simplex (quad)
NA
RNU6-1264P
sanders_11_ASD_discovery_controls-12301.s1
Maternal
Simplex (quad)
NA
RNU6-1264P
sanders_11_ASD_discovery_controls-12301.s1
Maternal
Simplex (quad)
NA
WSCD1
sanders_11_ASD_discovery_controls-12784.s1
Maternal
Simplex (quad)
NA
RNU6-1264P
sanders_11_ASD_discovery_controls-13080.s1
Paternal
Simplex (quad)
NA
CYB5D2,ZZEF1,ANKFY1
No Animal Model Data Available