Copy Number Variants / 13q34

13q34

Case population data
Control population data
Type
Deletion-Duplication
Average Length
372329
Range
-
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
19
Populations
25 (19 case / 6 control)
Individuals
161 (110 case / 51 control)
Summary

Summary statement in development

Reports related to 13q34 (19 Reports)
# Type Title Author, Year
1 Major Structural variation of chromosomes in autism spectrum disorder. Marshall CR , et al. (2008)
2 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
3 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
4 Minor Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
5 Minor Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
6 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
7 Minor Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Celestino-Soper PB , et al. (2011)
8 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
9 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
10 Minor Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
11 Major Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Nguyen LS , et al. (2013)
12 Minor Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
13 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
14 Major Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Sajan SA , et al. (2013)
15 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
16 Major A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature. Charalsawadi C , et al. (2014)
17 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
18 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
19 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
Show all Case Details Show all Cohort Details

13q34

Description:

Discovery case samples derived from AGRE set 4 (most recent patient recruitment)

Diagnosis:

Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes

Gai X , et al. (2011)
Cohort Size: 631

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 109358

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European

13q34

Description:

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.

Diagnosis:

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).

Yin CL , et al. (2016)
Cohort Size: 335

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 120940

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Genome-Wide Human SNP Array 6.0
Software: Affymetrix Genotyping Console v4.1
Algorithm: -
Geographical Ancestry: Han Chinese

13q34

Description:

Autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

ASD

Levy D , et al. (2011)
Cohort Size: 858

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 367137

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

-

Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -

13q34

Description:

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)

Diagnosis:

Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 57
Female: 43
Unknown: -
CNV Size: 89483

Deletion: 0
Duplication: 3

Total CNV: 3
Discovery Method:

WES

Validation Method:

None

Platform: 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)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A

13q34

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

Krumm N , et al. (2015)
Cohort Size: 2377

Age Min: -
Age Max: -
Average: -

Male: 60
Female: 40
Unknown: -
CNV Size: 342999

Deletion: 0
Duplication: 10

Total CNV: 10
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

13q34

Description:

Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals

Diagnosis:

ASD (ADI-R and ADOS): strict, broad, or spectrum ASD

Pinto D , et al. (2010)
Cohort Size: 996

Age Min: -
Age Max: -
Average: -

Male: 67
Female: 33
Unknown: -
CNV Size: 392072

Deletion: 0
Duplication: 3

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), and/or array SNP (Affy 500K)

Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP & iPattern
Geographical Ancestry: European

13q34

Description:

ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)

Diagnosis:

Cases classified according to ADOS and ADI-R

Pinto D , et al. (2014)
Cohort Size: 1359

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 187523

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, and/or long-range PCR

Platform: Illumina 1M v.1 and v3. arrays
Software: -
Algorithm: -
Geographical Ancestry: Predominantly European

13q34

Description:

Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS

Prasad A , et al. (2013)
Cohort Size: 676

Age Min: -
Age Max: -
Average: -

Male: 60
Female: 40
Unknown: -
CNV Size: 118303

Deletion: 2
Duplication: 3

Total CNV: 5
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada

13q34

Description:

Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.

Diagnosis:

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)

Sanders SJ , et al. (2011)
Cohort Size: 1124

Age Min: -
Age Max: -
Average: -

Male: 69
Female: 31
Unknown: -
CNV Size: 364811

Deletion: 9
Duplication: 11

Total CNV: 20
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 (n=334) or Illumina 1M v3 (n=840)
Software: -
Algorithm: PennCNV, QuantiSNP, & GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&

13q34

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Engchuan W , et al. (2015)
Cohort Size: 1892

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 392071

Deletion: 1
Duplication: 9

Total CNV: 10
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

13q34

Description:

Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites

Diagnosis:

ASD

Marshall CR , et al. (2008)
Cohort Size: 427

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 284289

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP, karotyping

Validation Method:

qPCR, qmPCR

Platform: Affy 500K
Software: -
Algorithm: dChip, CNAG, & GEMCA
Geographical Ancestry: 90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African

13q34

Description:

ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)

Diagnosis:

Cases diagnosed with ASD

Poultney CS , et al. (2013)
Cohort Size: 299

Age Min: -
Age Max: -
Average: -

Male: 43
Female: 57
Unknown: -
CNV Size: 22941

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

WES

Validation Method:

None

Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European

13q34

Description:

1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.

Diagnosis:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Girirajan S , et al. (2013)
Cohort Size: 2588

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 349000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
Software: Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: NA

13q34

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 3221006

Deletion: 2
Duplication: 6

Total CNV: 8
Discovery Method:

aCGH

Validation Method:

FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA

13q34

Description:

Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes

Diagnosis:

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

Sajan SA , et al. (2013)
Cohort Size: 487

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 135947

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian

13q34

Description:

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.

Diagnosis:

ASD

Celestino-Soper PB , et al. (2011)
Cohort Size: 99

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 99

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -

13q34

Description:

A cross-sectional, prospective cohort study of Thai ASD cases from January 2006 to December 2009

Diagnosis:

Cases met DSM-IV criteria for autistic disorder (n=161) or PDD-NOS (n=42); cases with dysmorphic features compatible with known genetic syndromes, a history of perinatal complications, low birth weight, or prematurity were excluded.

Charalsawadi C , et al. (2014)
Cohort Size: 203

Age Min: 41
Age Max: 41
Average: 41

Male: 100
Female: -
Unknown: -
CNV Size: 2110000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

G-banded karyotyping

Validation Method:

FISH, solid phase hybridization (Illumina HumanCytoSNP-12 v2.1)

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: Thai

13q34

Description:

Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.

Diagnosis:

Developmental delay with or without congenital malformations

Girirajan S , et al. (2012)
Cohort Size: 32587

Age Min: 2
Age Max: 2
Average: 2

Male: -
Female: 100
Unknown: -
CNV Size: 557543

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

Platform: BACs ACGH (SignatureChipoWG; n=9207) or oligoarray (SignatureChipOS; n=23,380)
Software: -
Algorithm: -
Geographical Ancestry: -

13q34

Description:

Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); and DECIPHER

Diagnosis:

Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD

Nguyen LS , et al. (2013)
Cohort Size: 57365

Age Min: -
Age Max: -
Average: -

Male: 18
Female: 15
Unknown: 67
CNV Size: 4213684

Deletion: 13
Duplication: 20

Total CNV: 33
Discovery Method:

aCGH (n=45,744 from Signature Genomic Labs)

Validation Method:

FISH

Platform: SignatureChip BACs aCGH or SignatureChip Oligo whole-genome microarray (n=45,744)
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Case Details Show all Cohort Details

yin_16_ASD_discovery_cases-case456

Clinical Profile:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.

Cognitive Profile:

-

Yin CL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 110717309
CNV End: 110754049
CNV Size: 36741
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

yin_16_ASD_discovery_cases-case457

Clinical Profile:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.

Cognitive Profile:

-

Yin CL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 114221971
CNV End: 114342910
CNV Size: 120940
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, CDC16, UPF3A

yin_16_ASD_discovery_cases-case458

Clinical Profile:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.

Cognitive Profile:

-

Yin CL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 114299160
CNV End: 114342910
CNV Size: 43751
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CLCP2, CHAMP1, LINC01054, UPF3A

gai_11_ASD_discovery_cases-AU1327304

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: -
CNV End: -
CNV Size: 109358
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: -
Gene Content: -

gai_11_ASD_discovery_cases-AU1327305

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: -
CNV End: -
CNV Size: 105108
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: -
Gene Content: -

levy_11_ASD_discovery_cases-12434.p1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 114147230
CNV End: 114342045
CNV Size: 367137
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, CDC16, UPF3A

pinto_10_ASD_discovery_cases-case5013_3

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 111025082
CNV End: 111098935
CNV Size: 73854
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

pinto_10_ASD_discovery_cases-case5135_3

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 392072
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: -
Gene Content: -

pinto_10_ASD_discovery_cases-case5145_4

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 113809317
CNV End: 113841915
CNV Size: 32599
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

prasad_12_ASD_discovery_cases-case79449

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: 25387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case87285

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: 9540
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_cases-11049.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 113330535
CNV End: 113347907
CNV Size: 17372
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11093.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 76

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 113842344
CNV End: 113845386
CNV Size: 3042
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6

sanders_11_ASD_discovery_cases-11114.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 111029653
CNV End: 111098935
CNV Size: 69282
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11122.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 110080755
CNV End: 110109174
CNV Size: 28419
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11196.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 12.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 114294290
CNV End: 114339545
CNV Size: 45255
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: CLCP2, CHAMP1, LINC01054, UPF3A

sanders_11_ASD_discovery_cases-11246.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 112656233
CNV End: 112671625
CNV Size: 15392
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11257.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 114241581
CNV End: 114280254
CNV Size: 38673
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CDC16

sanders_11_ASD_discovery_cases-11285.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 13; non-verbal IQ, 20; verbal IQ, 5

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 15.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 111025082
CNV End: 111047360
CNV Size: 22278
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11834.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 113810701
CNV End: 113827423
CNV Size: 16722
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

sanders_11_ASD_discovery_cases-11989.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 114334878
CNV End: 114339545
CNV Size: 4667
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12184.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 12.9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 113579480
CNV End: 113583346
CNV Size: 3866
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12424.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 4.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 113118393
CNV End: 113120154
CNV Size: 1761
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12426.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 110089850
CNV End: 110109174
CNV Size: 19324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12434.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 114147230
CNV End: 114339545
CNV Size: 364811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, CDC16, UPF3A

sanders_11_ASD_discovery_cases-12606.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 59; non-verbal IQ, 59; verbal IQ, 62

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 110089850
CNV End: 110109174
CNV Size: 19324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12623.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 95

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 112656233
CNV End: 112671625
CNV Size: 15392
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12798.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 4.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 33824
CNV End: 35632
CNV Size: 1808
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12933.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 42; non-verbal IQ, 41; verbal IQ, 44

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 111031119
CNV End: 111047360
CNV Size: 16241
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13001.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 111028033
CNV End: 111096769
CNV Size: 68736
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13063.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 113810701
CNV End: 113834827
CNV Size: 24126
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

krumm_13_ASD_discovery_cases-case11196.p1

Clinical Profile:

ASD proband from SSC quad family 11196. SRS score of 80.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 112.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 114236798
CNV End: 114326281
CNV Size: 89483
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CLCP2, CHAMP1, CDC16, UPF3A

krumm_13_ASD_discovery_cases-case11808.p1

Clinical Profile:

ASD proband from SSC quad family 11808. SRS score of 71.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 84.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 113325660
CNV End: 113326091
CNV Size: 431
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_13_ASD_discovery_cases-case13063.p1

Clinical Profile:

ASD proband from SSC quad family 13063. SRS score of 74.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 49.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 113811735
CNV End: 113832488
CNV Size: 20753
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

krumm_15_ASD_discovery_cases-case11196.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 114236644
CNV End: 114326281
CNV Size: 89637
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CLCP2, CHAMP1, CDC16, UPF3A

krumm_15_ASD_discovery_cases-case11257.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 114242120
CNV End: 114281846
CNV Size: 39726
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CDC16, UPF3A

krumm_15_ASD_discovery_cases-case11834.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 113811735
CNV End: 113834672
CNV Size: 22937
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

krumm_15_ASD_discovery_cases-case12220.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 113811735
CNV End: 113832488
CNV Size: 20753
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

krumm_15_ASD_discovery_cases-case12434.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 114147230
CNV End: 114326281
CNV Size: 342999
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CLCP2, CHAMP1, CDC16, UPF3A

krumm_15_ASD_discovery_cases-case13063.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 113811735
CNV End: 113832488
CNV Size: 20753
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

krumm_15_ASD_discovery_cases-case13106.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 113811735
CNV End: 113834672
CNV Size: 22937
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

krumm_15_ASD_discovery_cases-case13294.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 113811735
CNV End: 113834672
CNV Size: 22937
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

krumm_15_ASD_discovery_cases-case13796.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 114242120
CNV End: 114272443
CNV Size: 30323
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR548AR, CDC16

krumm_15_ASD_discovery_cases-case13987.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 110357471
CNV End: 110627547
CNV Size: 270076
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: COL4A2-AS1, COL4A2-AS2, RAB20, COL4A2, NAXD

prasad_12_ASD_discovery_cases-case122687L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: 63663
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case154267L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: -
CNV End: -
CNV Size: 118303
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case60966-L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: 17047
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

engchuan_15_ASD_discovery_cases-case2289_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 111028033
CNV End: 111098935
CNV Size: 70902
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3159_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 110895914
CNV End: 111125666
CNV Size: 229752
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, LINC00431, LINC00368, ARHGEF7-IT1, ANKRD10, ARHGEF7

engchuan_15_ASD_discovery_cases-case4463_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 111029653
CNV End: 111098935
CNV Size: 69282
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case4508_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 33824
CNV End: 123748
CNV Size: 89923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case5013_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 111025082
CNV End: 111098935
CNV Size: 73853
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case5135_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: -
CNV End: -
CNV Size: 392071
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: -
Gene Content: -

engchuan_15_ASD_discovery_cases-case5145_4

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 113809317
CNV End: 113841915
CNV Size: 32598
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

girirajan_13a_ASD_discovery_cases-12434.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 114147230
CNV End: 114336423
CNV Size: 349000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, CDC16, UPF3A

girirajan_13a_ASD_discovery_cases-13987.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 110299652
CNV End: 110589652
CNV Size: 291000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR8073, COL4A2-AS1, COL4A2-AS2, RAB20, COL4A1, COL4A2

marshall_08_ASD_discovery_cases-MM0295-003

Clinical Profile:

NA

Cognitive Profile:

NA

Marshall CR , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 113764970
CNV End: 113936974
CNV Size: 284289
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: GAS6-AS2, LINC00454, LINC00565, GAS6-AS1, GAS6, TMEM255B, LINC00452

pinto_14_ASD_discovery_cases2-case9879_202

Clinical Profile:

Clinical profile: N/A.

Cognitive Profile:

Cognitive profile: N/A.

Pinto D , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 113391958
CNV End: 113579480
CNV Size: 187523
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU1-16P, ADPRHL1, DCUN1D2, DCUN1D2-AS, TMCO3

engchuan_15_ASD_discovery_cases-case21035_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 110072363
CNV End: 110109174
CNV Size: 36811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

celestino-soper_11_ASD_discovery_cases-11399

Clinical Profile:

NA

Cognitive Profile:

NA

Celestino-Soper PB , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 111115523
CNV End: 111115622
CNV Size: 99
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ARHGEF7-AS2, ARHGEF7

charalsawadi_14_ASD/ID_discovery_cases-case1

Clinical Profile:

Initial diagnosis of PDD-NOS based on DSM-IV criteria; diagnosis of ASD confirmed using Thai version of ADOS. Birth/neonatal history: born full-term by C-section due to cephalopelvic disproportion after uneventful pregnancy; birth weight of 2600 g(10th-25th %ile), relative to Thai population; no immediate complications after birth. Developmental milestones: delayed speech; assessments of gross and fine motor developmental milestones were unremarkable. Behavioral/psychiatric evaluation: hyperactivity. Dysmorphic features: none. Growth parameters: weight of 14.5 kg (50th-75th %ile), height of 97 cm (50th-75th %ile), head circumference of 48 cm (10th-25th %ile). Additional genetic information: case with ring chromosome 13 (detected by G-banded karyotyping; observed in all 50 analyzed metaphase lymphocytes). Karyotype: 46,XY,r(13)(p11.2q34).ish del(13)(q34)(RP11-139P6-).arr[hg19] 13q34(112,996,118-115,106,996)x1 dn.

Cognitive Profile:

Mild mental impairment in areas of quantitative reasoning and visual-spatial processing; IQ of 60 using a non-verbal form of Stanford-Binet Intelligence Scale, 5th edition; mildly impaired adaptive behavior on Vineland Adaptive Behavior Scales.

Charalsawadi C , et al. (2014)
Primary Diagnosis: ASD and ID

Age: 41 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 112505944
CNV End: 114341521
CNV Size: 2110000
Validation Description: FISH, solid phase hybridization (Illumina HumanCytoSNP-12 v2.1)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, CUL4A, UPF3A

poultney_13_ASD_discovery_cases-case00HI1548A

Clinical Profile:

ASD case from AGRE (AGRE ID AU076705; NDAR ID NDAR_INVLM604GMM)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 113811734
CNV End: 113834674
CNV Size: 22941
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

poultney_13_ASD_discovery_cases-case03HI2537A

Clinical Profile:

ASD case from AGRE (AGRE ID AU0934302; NDAR ID NDAR_INVMY062BPQ)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 113811734
CNV End: 113832754
CNV Size: 21021
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

poultney_13_ASD_discovery_cases-case05HI4355A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1525302; NDAR ID NDAR_INVCB608CF5)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 113811734
CNV End: 113832754
CNV Size: 21021
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

poultney_13_ASD_discovery_cases-case98HI0631B

Clinical Profile:

ASD case from AGRE (AGRE ID AU011105; NDAR ID NDAR_INVZH522MU2)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 113811734
CNV End: 113834674
CNV Size: 22941
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

engchuan_15_ASD_discovery_cases-case14344_4580

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 111028033
CNV End: 111107171
CNV Size: 79138
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case14378_4910

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 111016325
CNV End: 111098935
CNV Size: 82610
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-248205

Clinical Profile:

Database: DECIPHER. Indication for study: intellectual disability/developmental delay, seizures, speech delay, tall stature, proportionate

Cognitive Profile:

Developmental delay/intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability and epilepsy

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 112505944
CNV End: 114319666
CNV Size: 1951298
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-248940

Clinical Profile:

Database: DECIPHER. Indication for study: intellectual disability/developmental delay.

Cognitive Profile:

Developmental delay/intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 110330081
CNV End: 114293545
CNV Size: 4076592
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-250433

Clinical Profile:

Database: DECIPHER. Indication for study: Broad base to nose, constipation, flat arches of feet, headache/migraine/body pain, hypertelorism, intellectual disability/developmental delay, palpebral fissures slant up, philtrum, skin pigment, speech delay, thick lower and upper lip, thick stiff skin, slender build, umbilical hernia

Cognitive Profile:

Developmental delay/intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 112802888
CNV End: 114344403
CNV Size: 1652676
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-260546

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 111576269
CNV End: 114293486
CNV Size: 2830345
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, LINC01070, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC16621

Clinical Profile:

Database: Signature. Indication for study: intellectual disability, Multiple Congenital Anomalies, karyotype: der(13)t(13;20) w/~12 Mb 20p dup

Cognitive Profile:

Intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Intellectual disability

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 112673540
CNV End: 114344403
CNV Size: 1842024
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC24735

Clinical Profile:

Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, karyotype: der(13)t(13;17) w/~4Mb 17q dup

Cognitive Profile:

Developmental delay

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 110303847
CNV End: 114344403
CNV Size: 4213684
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal (balanced carrier)
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC28402

Clinical Profile:

Database: Signature. Indication for study: Multiple Anomalies

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 110571106
CNV End: 114319666
CNV Size: 3861688
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36677

Clinical Profile:

Database: Signature. Indication for study: Trisomy 13

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 113050066
CNV End: 114312466
CNV Size: 1373561
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC37523

Clinical Profile:

Database: Signature. Indication for study: Dysmorphic Features, intellectual disability, karyotype: der(13)t(13;16) w/~3Mb 6q gain

Cognitive Profile:

Intellectual disability

Nguyen LS , et al. (2013)
Primary Diagnosis: Intellectual disability

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 113853734
CNV End: 114344403
CNV Size: 613171
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, GAS6, CDC16, LINC00452, RASA3, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC38199

Clinical Profile:

Database: Signature. Indication for study: Dysmorphic Features, 46,XX,add(13)(q34), karyotype: der(13)t(X;13) w/~30 Mb Xp gain

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: Dysmorphic features

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 114227954
CNV End: 114312466
CNV Size: 84512
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CLCP2, CDC16, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC44799

Clinical Profile:

Database: Signature. Indication for study: Family history of Congenital Neuropathy, R/O Digeorge, karyotype: der(13)t(7;13) w/~3Mb 7p dup

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 112505944
CNV End: 114326261
CNV Size: 2086029
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC51160

Clinical Profile:

Database: Signature. Indication for study: Multiple Congenital Anomalies, karyotype: der(13)t(13;20) w/~14 Mb 20q del

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 111166466
CNV End: 114326261
CNV Size: 3272923
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC64285

Clinical Profile:

Database: Signature. Indication for study: Developmental Delay, karyotype: der(13)t(4;13) w/~14Mb 4p dup

Cognitive Profile:

Developmental delay

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 113237590
CNV End: 114326261
CNV Size: 1199832
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, CUL4A, UPF3A

girirajan_12_ASD/DD/ID_discovery_cases-case38025

Clinical Profile:

Deceased. Dysmorphic features: low-set ears with folded helices. Congenital anomalies: severe congenital heart defects (tetralogy of Fallot, absent pulmonary valve, ventricular septal defect), butterfly vertebrae, 13 rib pairs, supernumerary nipple. Family history: non-contributory.

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: MCA

Age: 2 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 113384155
CNV End: 113671678
CNV Size: 557543
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU1-16P, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, TMCO3, TFDP1

sajan_13_ACC/CBLH/PMG_discovery_cases-case1477-0

Clinical Profile:

Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.

Cognitive Profile:

Developmental delay: yes. Intellectual disability: no.

Sajan SA , et al. (2013)
Primary Diagnosis: ACC

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 110728337
CNV End: 110864283
CNV Size: 135947
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL21P107, LINC00567, LINC00346

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000780

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 114192458
CNV End: 114293545
CNV Size: 101087
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CDC16, UPF3A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: 651619
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001770

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 113328389
CNV End: 113671476
CNV Size: 343087
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU1-16P, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, TMCO3, TFDP1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002252

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 112292922
CNV End: 113636272
CNV Size: 1343351
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, CUL4A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004064

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 113448327
CNV End: 114327314
CNV Size: 960248
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, UPF3A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004734

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 113084152
CNV End: 114327173
CNV Size: 1324283
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, CUL4A, UPF3A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004843

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 111541166
CNV End: 113671678
CNV Size: 2656887
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, LINC01070, CUL4A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005735

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 111439396
CNV End: 114327173
CNV Size: 3221006
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, LINC01070, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient159

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient160

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient161

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient162

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient163

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient164

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient165

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient166

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient167

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient168

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient169

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient170

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient171

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient172

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient173

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient174

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient175

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient176

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient177

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient178

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -
Show all Control Details Show all Cohort Details

13q34

Description:

Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan

Diagnosis:

Controls

Yin CL , et al. (2016)
Cohort Size: 1093

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 120940

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Genome-Wide Human SNP Array 6.0
Software: Affymetrix Genotyping Console v4.1
Algorithm: -
Geographical Ancestry: Han Chinese

13q34

Description:

Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

Control

Levy D , et al. (2011)
Cohort Size: 863

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 166336

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

-

Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -

13q34

Description:

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

Diagnosis:

Controls (no history of psychiatric symptoms by self-report)

Nord AS , et al. (2011)
Cohort Size: 123

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 40904

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

None

Platform: NimbleGen HD2
Software: -
Algorithm: Sliding-window algorithm, ~10 kb minumum size threshold
Geographical Ancestry: -

13q34

Description:

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)

Diagnosis:

Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 57
Female: 43
Unknown: -
CNV Size: 143809

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection

Platform: 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)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A

13q34

Description:

Unaffected siblings from quad families from the Simons Simplex Collection

Diagnosis:

Control

Krumm N , et al. (2015)
Cohort Size: 1786

Age Min: -
Age Max: -
Average: -

Male: 60
Female: 40
Unknown: -
CNV Size: 165170

Deletion: 0
Duplication: 10

Total CNV: 10
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

13q34

Description:

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.

Diagnosis:

Control

Prasad A , et al. (2013)
Cohort Size: 5139

Age Min: -
Age Max: -
Average: -

Male: 60
Female: 40
Unknown: -
CNV Size: 118303

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH (PDx controls)

Validation Method:

-

Platform: Agilent 1M (PDx controls)
Software: PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: PDx controls: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: NA

13q34

Description:

Matched siblings of autistic probands from the Simons Simplex Collection (SSC).

Diagnosis:

Controls

Sanders SJ , et al. (2011)
Cohort Size: 872

Age Min: -
Age Max: -
Average: -

Male: 69
Female: 31
Unknown: -
CNV Size: 161917

Deletion: 11
Duplication: 4

Total CNV: 15
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 or Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, & GNOSIS
Geographical Ancestry: -

13q34

Description:

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)

Diagnosis:

Controls; subjects had no previous psychiatric history

Engchuan W , et al. (2015)
Cohort Size: 2342

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 75033

Deletion: 0
Duplication: 9

Total CNV: 9
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

13q34

Description:

Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)

Diagnosis:

Control

Poultney CS , et al. (2013)
Cohort Size: 260

Age Min: -
Age Max: -
Average: -

Male: 43
Female: 57
Unknown: -
CNV Size: 22941

Deletion: 0
Duplication: 3

Total CNV: 3
Discovery Method:

WES

Validation Method:

None

Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European

13q34

Description:

German PopGen project and entries from Database of Genomic Variants

Diagnosis:

Controls

Marshall CR , et al. (2008)
Cohort Size: 500

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP, karotyping

Validation Method:

-

Platform: Affy 500K
Software: -
Algorithm: dChip, CNAG, & GEMCA
Geographical Ancestry: European

13q34

Description:

Non-disease controls from Ontario population

Diagnosis:

Controls

Marshall CR , et al. (2008)
Cohort Size: 1152

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP, karotyping

Validation Method:

-

Platform: Affy 500K
Software: -
Algorithm: dChip, CNAG, & GEMCA
Geographical Ancestry: European

13q34

Description:

Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Controls

Kaminsky EB , et al. (2011)
Cohort Size: 10118

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: NA

Deletion: NA
Duplication: NA

Total CNV: NA
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA

13q34

Description:

Persons found to have no overt neurological disorders during screening for other studies

Diagnosis:

Control

Girirajan S , et al. (2012)
Cohort Size: 8329

Age Min: 2
Age Max: 2
Average: 2

Male: -
Female: 100
Unknown: -
CNV Size: 557543

Deletion: NA
Duplication: NA

Total CNV: NA
Discovery Method:

aCGH

Validation Method:

-

Platform: BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
Software: -
Algorithm: -
Geographical Ancestry: -

13q34

Description:

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.

Diagnosis:

Control

Nguyen LS , et al. (2013)
Cohort Size: 20474

Age Min: -
Age Max: -
Average: -

Male: 18
Female: 15
Unknown: 67
CNV Size: N/A

Deletion: 1
Duplication: 5

Total CNV: 6
Discovery Method:

N/A

Validation Method:

N/A

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Control Details Show all Cohort Details

levy_11_ASD_discovery_controls-11190.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 110514668
CNV End: 110681003
CNV Size: 166336
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RAB20, CARS2, NAXD

nord_11_ASD_discovery_controls-04C27219

Clinical Profile:

-

Cognitive Profile:

-

Nord AS , et al. (2011)
Primary Diagnosis: Control

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: -
CNV End: -
CNV Size: 12163
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: -
Gene Content: -

nord_11_ASD_discovery_controls-04C27504

Clinical Profile:

-

Cognitive Profile:

-

Nord AS , et al. (2011)
Primary Diagnosis: Control

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: -
CNV End: -
CNV Size: 14930
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: -
Gene Content: -

nord_11_ASD_discovery_controls-04C28078

Clinical Profile:

-

Cognitive Profile:

-

Nord AS , et al. (2011)
Primary Diagnosis: Control

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: -
CNV End: -
CNV Size: 40904
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_controls-11033.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 6.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 113842344
CNV End: 113845386
CNV Size: 3042
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6

sanders_11_ASD_discovery_controls-11041.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 15.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 113842344
CNV End: 113845386
CNV Size: 3042
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6

sanders_11_ASD_discovery_controls-11085.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 8.5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 110089850
CNV End: 110109174
CNV Size: 19324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11190.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 6.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 110516141
CNV End: 110678058
CNV Size: 161917
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: RAB20, CARS2, NAXD

sanders_11_ASD_discovery_controls-11256.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 110089850
CNV End: 110109174
CNV Size: 19324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11285.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 16.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 111025082
CNV End: 111047360
CNV Size: 22278
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11488.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 113842344
CNV End: 113845386
CNV Size: 3042
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6

sanders_11_ASD_discovery_controls-11834.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 8.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 110089850
CNV End: 110109174
CNV Size: 19324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12015.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 111031119
CNV End: 111047360
CNV Size: 16241
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12048.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 10.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 111028033
CNV End: 111098935
CNV Size: 70902
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12426.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 4.7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 110089850
CNV End: 110109174
CNV Size: 19324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12623.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 8.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 112656233
CNV End: 112671625
CNV Size: 15392
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12894.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 4.9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 110089850
CNV End: 110109174
CNV Size: 19324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12933.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 111031119
CNV End: 111047360
CNV Size: 16241
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-13001.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 111028033
CNV End: 111098935
CNV Size: 70902
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

krumm_13_ASD_discovery_controls-control11190.s1

Clinical Profile:

Unaffected sibling from SSC quad family 11190. SRS score of 55.

Cognitive Profile:

-

Krumm N , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 110523664
CNV End: 110667473
CNV Size: 143809
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RAB20, CARS2, NAXD

krumm_13_ASD_discovery_controls-control11196.s1

Clinical Profile:

Unaffected sibling from SSC quad family 11196. SRS score of 53.

Cognitive Profile:

-

Krumm N , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 114242120
CNV End: 114326281
CNV Size: 84161
Validation Description: Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CLCP2, CHAMP1, CDC16, UPF3A

krumm_13_ASD_discovery_controls-control12829.s1

Clinical Profile:

Unaffected sibling from SSC quad family 12829. SRS score of 70.

Cognitive Profile:

-

Krumm N , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 113483839
CNV End: 113520733
CNV Size: 36894
Validation Description: aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DCUN1D2, TMCO3

krumm_13_ASD_discovery_controls-control13063.s1

Clinical Profile:

Unaffected sibling from SSC quad family 13063. SRS score of 41.

Cognitive Profile:

-

Krumm N , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 113811735
CNV End: 113828711
CNV Size: 16976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

krumm_15_ASD_discovery_controls-control11107.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 114244879
CNV End: 114286402
CNV Size: 41523
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR4502, CDC16, UPF3A

krumm_15_ASD_discovery_controls-control11190.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 110511933
CNV End: 110677103
CNV Size: 165170
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RAB20, CARS2, COL4A2, NAXD

krumm_15_ASD_discovery_controls-control11196.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 114236644
CNV End: 114326281
CNV Size: 89637
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CLCP2, CHAMP1, CDC16, UPF3A

krumm_15_ASD_discovery_controls-control12220.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 113820863
CNV End: 113832488
CNV Size: 11625
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6

krumm_15_ASD_discovery_controls-control12829.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 113483839
CNV End: 113520733
CNV Size: 36894
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: DCUN1D2, TMCO3

krumm_15_ASD_discovery_controls-control13063.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 113811735
CNV End: 113832488
CNV Size: 20753
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

krumm_15_ASD_discovery_controls-control14063.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 113045270
CNV End: 113077211
CNV Size: 31941
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_controls-control14065.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 114250548
CNV End: 114281846
CNV Size: 31298
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR4502, CDC16, UPF3A

krumm_15_ASD_discovery_controls-control14181.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 113811735
CNV End: 113834672
CNV Size: 22937
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

krumm_15_ASD_discovery_controls-control14417.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 44700
CNV End: 132928
CNV Size: 88227
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

poultney_13_ASD_discovery_controls-control05C39645A

Clinical Profile:

NIMH Control (NIMH ID 69540)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 113811734
CNV End: 113832754
CNV Size: 21021
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

poultney_13_ASD_discovery_controls-control05C41452A

Clinical Profile:

NIMH Control (NIMH ID 70653)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 113811734
CNV End: 113832754
CNV Size: 21021
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

poultney_13_ASD_discovery_controls-control05C42565A

Clinical Profile:

NIMH Control (NIMH ID 16442)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 113811734
CNV End: 113834674
CNV Size: 22941
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GAS6-AS1, GAS6, TMEM255B

nguyen_13_DD/ID/MCA/ASD_discovery_controls-control15

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_controls-control16

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_controls-control17

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_controls-control18

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_controls-control19

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

nguyen_13_DD/ID/MCA/ASD_discovery_controls-control20

Clinical Profile:

N/A

Cognitive Profile:

N/A

Nguyen LS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB182878_1007875343

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 113109474
CNV End: 113144570
CNV Size: 35096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: F10-AS1, F10, KARSP2, F7

engchuan_15_ASD_discovery_controls-controlB394441_1007874856

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 114241581
CNV End: 114287680
CNV Size: 46099
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR548AR, MIR4502, CDC16, UPF3A

engchuan_15_ASD_discovery_controls-controlB640981_1007874885

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 114183099
CNV End: 114220400
CNV Size: 37301
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB806145_1007873615

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 111029653
CNV End: 111098935
CNV Size: 69282
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB983717_1007842477

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 113754200
CNV End: 113820249
CNV Size: 66237
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GAS6-AS1, TMEM255B

engchuan_15_ASD_discovery_controls-controlHABC_900023_900023

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 111028033
CNV End: 111098714
CNV Size: 70681
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900425_900425

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 111028033
CNV End: 111098935
CNV Size: 70902
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900977_900977

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 111028033
CNV End: 111103066
CNV Size: 75033
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902547_902547

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 111029653
CNV End: 111096769
CNV Size: 67116
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
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