Copy Number Variants / 13q12.12

13q12.12

Case population data
Control population data
Type
Deletion-Duplication
Average Length
384734
Range
23604100-24794300
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
21
Populations
27 (21 case / 6 control)
Individuals
78 (52 case / 26 control)
Summary

Summary statement in development

Reports related to 13q12.12 (21 Reports)
# Type Title Author, Year
1 Major Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Autism Genome Project Consortium , et al. (2007)
2 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
3 Major Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Rosenfeld JA , et al. (2010)
4 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
5 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)
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 Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
8 Major Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Griswold AJ , et al. (2012)
9 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
10 Minor Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
11 Minor Identification of rare copy number variants in high burden schizophrenia families. Van Den Bossche MJ , et al. (2013)
12 Minor Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. Tropeano M , 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 Minor 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 Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Roberts JL , et al. (2013)
16 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , 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 The landscape of copy number variations in Finnish families with autism spectrum disorders. Kanduri C , et al. (2015)
20 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
21 Minor Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Leppa VM , et al. (2016)
Show all Case Details Show all Cohort Details

13q12.12

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: 60820

Deletion: 2
Duplication: 0

Total CNV: 2
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

13q12.12

Description:

Replication case samples derived from AGRE sets 1-3

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: 593

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 80918

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

13q12.12

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: 50
Female: 50
Unknown: -
CNV Size: 75786

Deletion: 0
Duplication: 1

Total CNV: 1
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

13q12.12

Description:

Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)

Diagnosis:

Diagnosis according to ADOS and ADI-R

Leppa VM , et al. (2016)
Cohort Size: 1764

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1400000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
Software: GenomeStudio, CNVision
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A

13q12.12

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: 100
Female: -
Unknown: -
CNV Size: 87232

Deletion: 0
Duplication: 1

Total CNV: 1
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

13q12.12

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: 1416888

Deletion: 1
Duplication: 1

Total CNV: 2
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

13q12.12

Description:

Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control

Diagnosis:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.

Kanduri C , et al. (2015)
Cohort Size: 80

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 11809

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Human OmniExpress-12v1.0 BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish

13q12.12

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: 67
Female: 33
Unknown: -
CNV Size: 149988

Deletion: 3
Duplication: 10

Total CNV: 13
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&

13q12.12

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: 1421323

Deletion: 3
Duplication: 7

Total CNV: 10
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

13q12.12

Description:

Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.

Diagnosis:

Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.

Griswold AJ , et al. (2012)
Cohort Size: 813

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1416887

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina Human 1M-v1_C BeadChip or 1M-DuoV3 BeadChip
Software: BeadStudio
Algorithm: Penn CNV, QuantiSNP
Geographical Ancestry: Range of self-reported ethnicities (specifics NA)

13q12.12

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: 33
Female: 67
Unknown: -
CNV Size: 12869

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

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

13q12.12

Description:

Autism Genome Project Consortium (AGP): ASD patients from 173 families with at least two affected individuals.

Diagnosis:

Patients diagnosed with ASD based on ADI-R and ADOS

Autism Genome Project Consortium , et al. (2007)
Cohort Size: 196

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1190200

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors

Platform: Affy 10K v2 array
Software: dChip
Algorithm: HMM
Geographical Ancestry: -

13q12.12

Description:

ASD cases with sporadic autism from the Simons Simplex Collection (SSC)

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.

Girirajan S , et al. (2011)
Cohort Size: 336

Age Min: -
Age Max: -
Average: -

Male: 33
Female: -
Unknown: 67
CNV Size: 70424

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -

13q12.12

Description:

Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)

Diagnosis:

ASD

Rosenfeld JA , et al. (2010)
Cohort Size: 1461

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 332266

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACs aCGH (targeted, n=881; whole-genome, n=482) or whole-genome oligo-aCGH (n=98)
Software: -
Algorithm: -
Geographical Ancestry: -

13q12.12

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: 1427000

Deletion: 1
Duplication: 0

Total CNV: 1
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

13q12.12

Description:

Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).

Diagnosis:

Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.

Tropeano M , et al. (2013)
Cohort Size: 10397

Age Min: 10
Age Max: 10
Average: 10

Male: 100
Female: -
Unknown: -
CNV Size: 1323181

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 60K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: 70% Caucasian, 15% African, 15% other/mixed ancestry

13q12.12

Description:

Prenatal and postnatal patients tested between Feb. 2008 and June 2012 by Signature Genomics Laboratories using aCGH platforms providing coverage over NRXN1

Diagnosis:

Most common indications for study: intellectual disability (ID), developmental delay (DD), and/or multiple congenital anomalies

Van Den Bossche MJ , et al. (2013)
Cohort Size: 30065

Age Min: 108
Age Max: 108
Average: 108

Male: -
Female: 100
Unknown: -
CNV Size: 1344122

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Signature Genomics SignatureChip OS v1.0 (105K), v2.0 (135K), or v3.0 (135K) (manufactured by Agilent) or BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: N/A

13q12.12

Description:

Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012

Diagnosis:

ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)

Roberts JL , et al. (2013)
Cohort Size: 215

Age Min: 108
Age Max: 108
Average: 108

Male: 100
Female: -
Unknown: -
CNV Size: 1400000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

BACs aCGH or FISH

Platform: 105K or 180K oligonucleotide microarray
Software: Nexus Copy Number (BioDiscovery)
Algorithm: -
Geographical Ancestry: N/A

13q12.12

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: 1586388

Deletion: 4
Duplication: 3

Total CNV: 7
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

13q12.12

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: 100
Female: -
Unknown: -
CNV Size: 126581

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None (not tested or failure to confirm by qPCR)

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

13q12.12

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: 5
Age Max: 5
Average: 5

Male: -
Female: 100
Unknown: -
CNV Size: 1324741

Deletion: 1
Duplication: 0

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: -
Show all Case Details Show all Cohort Details

yin_16_ASD_discovery_cases-case445

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: 24498389
CNV End: 24559208
CNV Size: 60820
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TPTE2P6, PARP4

yin_16_ASD_discovery_cases-case446

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: 24498389
CNV End: 24559208
CNV Size: 60820
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TPTE2P6, PARP4

gai_11_ASD_replication_cases-AU012003

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: 80918
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: -
Gene Content: -

girirajan_11_ASD_discovery_cases-Si163

Clinical Profile:

ADOS score: 7. Vineland composite score: 63.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 47; Non-verbal IQ, 49.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 24606647
CNV End: 24677071
CNV Size: 70424
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

leppa_16_ASD_discovery_cases-AU0965301

Clinical Profile:

-

Cognitive Profile:

-

Leppa VM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 22954861
CNV End: 24382862
CNV Size: 1400000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

kanduri_15_ASD_discovery_cases-case1966

Clinical Profile:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: 11809
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: -
Gene Content: -

pinto_10_ASD_discovery_cases-case1045_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: 24643343
CNV End: 24730574
CNV Size: 87232
Validation Description: Illumina550;Affy5.0
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, ATP12A

sanders_11_ASD_discovery_cases-11134.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116

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

Age: 13.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 22853610
CNV End: 22867132
CNV Size: 13522
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11233.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65

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

Age: 6.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 24357843
CNV End: 24436036
CNV Size: 78193
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: CYCSP33, TPTE2P6, PARP4

sanders_11_ASD_discovery_cases-11233.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65

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

Age: 6.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 22775594
CNV End: 22925582
CNV Size: 149988
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RPL7AP73, IPMKP1, RFESDP1, BASP1P1, NUS1P2, LINC00621

sanders_11_ASD_discovery_cases-11270.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 24628951
CNV End: 24675922
CNV Size: 46971
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11526.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85

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

Age: 7.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 22909577
CNV End: 22941414
CNV Size: 31837
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: NUS1P2, LINC00621

sanders_11_ASD_discovery_cases-11665.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65

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

Age: 9.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 24406811
CNV End: 24431308
CNV Size: 24497
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: TPTE2P6, PARP4

sanders_11_ASD_discovery_cases-11694.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116

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

Age: 8.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 24406811
CNV End: 24425457
CNV Size: 18646
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: TPTE2P6, PARP4

sanders_11_ASD_discovery_cases-12170.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77

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

Age: 7.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 23244017
CNV End: 23245158
CNV Size: 1141
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: TATDN2P3, SGCG

sanders_11_ASD_discovery_cases-12266.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54

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

Age: 5.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 22828854
CNV End: 22838784
CNV Size: 9930
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12643.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 60; non-verbal IQ, 70; verbal IQ, 40

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

Age: 10.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband unmatched)
CNV Start: 24713036
CNV End: 24756895
CNV Size: 43859
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: IRX1P1, ANKRD20A10P

sanders_11_ASD_discovery_cases-12723.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38

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

Age: 6.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 22971458
CNV End: 22979379
CNV Size: 7921
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13060.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98

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

Age: 6.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 24624754
CNV End: 24675922
CNV Size: 51168
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13153.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59

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

Age: 9.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 22833904
CNV End: 22838784
CNV Size: 4880
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

pinto_14_ASD_discovery_cases2-case4374_1

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: 22937442
CNV End: 24354330
CNV Size: 1416888
Validation Description: qPCR (Griswold et al. 2011, PMID: 21360829)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

pinto_14_ASD_discovery_cases2-case6233_4

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: 22973716
CNV End: 24388878
CNV Size: 1415162
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

griswold_12_ASD_discovery_cases-case18011

Clinical Profile:

NA

Cognitive Profile:

NA

Griswold AJ , et al. (2012)
Primary Diagnosis: ASD/autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 22937442
CNV End: 24354330
CNV Size: 1416887
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

krumm_15_ASD_discovery_cases-case13844.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: 23203694
CNV End: 23279480
CNV Size: 75786
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-58P, TATDN2P3, SDAD1P4, SGCG

tropeano_13_DD/ASD_discovery_cases-case42

Clinical Profile:

Raised blood pressure during pregnancy, scalded-skin syndrome. Affected father.

Cognitive Profile:

-

Tropeano M , et al. (2013)
Primary Diagnosis: Birth defects

Age: 10 mos.

Gender: M
Primary Disorder Inheritence: Paternal

Family Profile: -
CNV Start: 22992823
CNV End: 24316005
CNV Size: 1323181
Validation Description: -
Primary Disorder Inheritence: Paternal
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

engchuan_15_ASD_discovery_cases-case1045_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: 24643343
CNV End: 24730574
CNV Size: 87231
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, ATP12A

engchuan_15_ASD_discovery_cases-case3438_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: 24626459
CNV End: 24675922
CNV Size: 49463
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case4022_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: 23727804
CNV End: 23933543
CNV Size: 205739
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO3P2, PCOTH, C1QTNF9B, MIPEP

engchuan_15_ASD_discovery_cases-case4374_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: 22937442
CNV End: 24354330
CNV Size: 1416887
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

engchuan_15_ASD_discovery_cases-case5336_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: 24357843
CNV End: 24436036
CNV Size: 78193
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CYCSP33, TPTE2P6, PARP4

engchuan_15_ASD_discovery_cases-case5336_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: 22775594
CNV End: 22925582
CNV Size: 149988
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL7AP73, IPMKP1, RFESDP1, BASP1P1, NUS1P2, LINC00621

girirajan_13a_ASD_discovery_cases-14266.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: 22957861
CNV End: 24387862
CNV Size: 1427000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

rosenfeld_10_ASD_discovery_cases-case21622

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: 332266
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: -
Gene Content: -

engchuan_15_ASD_discovery_cases-case21012_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: 22932509
CNV End: 24353833
CNV Size: 1421323
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

engchuan_15_ASD_discovery_cases-case1976_302

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: 22848383
CNV End: 22909577
CNV Size: 61194
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RFESDP1, BASP1P1, LINC00621

dabell_13_ASD/DD/ID_discovery_cases-patient25

Clinical Profile:

Indication for study: multiple disabilities.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Multiple disabilities

Age: 9 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22992622
CNV End: 24336745
CNV Size: 1344122
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

poultney_13_ASD_discovery_cases-case04HI3375A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1334303; NDAR ID N/A)

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: 24698656
CNV End: 24711524
CNV Size: 12869
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, ATP12A

engchuan_15_ASD_discovery_cases-case14164_2680

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: 24606013
CNV End: 24748587
CNV Size: 142574
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, IRX1P1, ATP12A

girirajan_12_ASD/DD/ID_discovery_cases-case61119

Clinical Profile:

Motor delay. Behavioral problems: NA. Normal tone. Dysmorphic features: brachycephaly, midface hypoplasia, downturned mouth, low-set ears, long and tapered fingers, abnormal thumb. Congenital anomalies: scoliosis, unilateral renal agenesis. Growth parameters: weight <3rd %ile, height 3rd-10th %ile, OFC 25th-50th %ile. Family history: not specific (adopted).

Cognitive Profile:

NA

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

Age: 9.5 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22970530
CNV End: 24295272
CNV Size: 1324741
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, HMGA1P6, LINC00327, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase14

Clinical Profile:

Microcephaly, cataract, dysmorphism

Cognitive Profile:

-

Roberts JL , et al. (2013)
Primary Diagnosis: Learning disability (developmental delay/intellectual disability)

Age: 9 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22913834
CNV End: 24345927
CNV Size: 1400000
Validation Description: BACs aCGH or FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NUS1P2, RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, LINC00621, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0

Clinical Profile:

Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes. Neurological features: spastic diplegic cerebral palsy, hypotonia, hyporeflexia, diminished strength, unsteady gait, fine motor delay, gross motor delay, visual motor delay, deficits in expressive and receptive language skills, deficits in motor oral skills, dysarthria. Ocular and auditory problems: strabismus. Gastrointestinal problems: problems with swallowing, reflux, constipation. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.

Cognitive Profile:

Developmental delay: yes. Intellectual disability: yes.

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 24357843
CNV End: 24446725
CNV Size: 88883
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CYCSP33, TPTE2P6, PARP4

sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0

Clinical Profile:

Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes. Neurological features: spastic diplegic cerebral palsy, hypotonia, hyporeflexia, diminished strength, unsteady gait, fine motor delay, gross motor delay, visual motor delay, deficits in expressive and receptive language skills, deficits in motor oral skills, dysarthria. Ocular and auditory problems: strabismus. Gastrointestinal problems: problems with swallowing, reflux, constipation. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.

Cognitive Profile:

Developmental delay: yes. Intellectual disability: yes.

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 22782997
CNV End: 22909577
CNV Size: 126581
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL7AP73, IPMKP1, RFESDP1, BASP1P1, LINC00621

engchuan_15_ASD_discovery_cases-case20188_1727001

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: 24695269
CNV End: 24756895
CNV Size: 61626
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, IRX1P1, ANKRD20A10P, ATP12A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000916

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: 23518725
CNV End: 24153706
CNV Size: 634981
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: MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, TNFRSF19, MIPEP, SPATA13

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002401

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: 23172478
CNV End: 23671209
CNV Size: 498731
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, LINC00327, SGCG, SACS, TNFRSF19

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002409

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: 24363400
CNV End: 24904246
CNV Size: 540846
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: CYCSP33, PSPC1P2, RNY1P7, RPL26P34, IRX1P1, ANKRD20A10P, ATP12A, TPTE2P6, PARP4, RNF17, CENPJ

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002732

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: 22992823
CNV End: 23499449
CNV Size: 506626
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, HMGA1P6, LINC00327, SGCG, SACS

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003865

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: 22904496
CNV End: 24490885
CNV Size: 1586388
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: NUS1P2, RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, CYCSP33, LINC00621, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13, TPTE2P6, PARP4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004123

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: 22992823
CNV End: 24316005
CNV Size: 1323181
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005207

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: 22980339
CNV End: 24363444
CNV Size: 1383104
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, HMGA1P6, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

szatmari_07_ASD_discovery_cases-NAAR041-F9-00C04573

Clinical Profile:

NA

Cognitive Profile:

NA

Autism Genome Project Consortium , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 23029961
CNV End: 24220162
CNV Size: 1190200
Validation Description: Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, HMGA1P6, LINC00327, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

szatmari_07_ASD_discovery_cases-NAAR041-F10-00C04574

Clinical Profile:

NA

Cognitive Profile:

NA

Autism Genome Project Consortium , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 23029961
CNV End: 24220162
CNV Size: 1190200
Validation Description: Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, HMGA1P6, LINC00327, SGCG, SACS, TNFRSF19, MIPEP, SPATA13
Show all Control Details Show all Cohort Details

13q12.12

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: 60820

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

13q12.12

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: -
Female: 100
Unknown: -
CNV Size: 63020

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

-

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

13q12.12

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: -
Female: 100
Unknown: -
CNV Size: 9588

Deletion: 0
Duplication: 1

Total CNV: 1
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

13q12.12

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: 50
Female: 50
Unknown: -
CNV Size: 12865

Deletion: 0
Duplication: 1

Total CNV: 1
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

13q12.12

Description:

Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control

Diagnosis:

Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Kanduri C , et al. (2015)
Cohort Size: 269

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Infinium HD Human610-Quad BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish

13q12.12

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: 67
Female: 33
Unknown: -
CNV Size: 152934

Deletion: 2
Duplication: 6

Total CNV: 8
Discovery Method:

Solid phase hybridization

Validation Method:

-

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

13q12.12

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: 809018

Deletion: 1
Duplication: 10

Total CNV: 11
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

13q12.12

Description:

Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)

Diagnosis:

Control

Griswold AJ , et al. (2012)
Cohort Size: 592

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1416887

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina Human 1M-v1_C BeadChip or 1M-DuoV3 BeadChip
Software: BeadStudio
Algorithm: Penn CNV, QuantiSNP
Geographical Ancestry: Caucasian

13q12.12

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: 33
Female: 67
Unknown: -
CNV Size: 1118077

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

WES

Validation Method:

None

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

13q12.12

Description:

Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.

Diagnosis:

Control. Individuals screened specifically for eight mental health disorders.

Girirajan S , et al. (2011)
Cohort Size: 337

Age Min: -
Age Max: -
Average: -

Male: 33
Female: -
Unknown: 67
CNV Size: 103723

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -

13q12.12

Description:

Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)

Diagnosis:

Control

Tropeano M , et al. (2013)
Cohort Size: 11277

Age Min: 10
Age Max: 10
Average: 10

Male: 100
Female: -
Unknown: -
CNV Size: N/A

Deletion: N/A
Duplication: N/A

Total CNV: N/A
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
Software: -
Algorithm: -
Geographical Ancestry: 77% Caucasian, 8.5% African, 14.5% other/mixed ancestry

13q12.12

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

13q12.12

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: 5
Age Max: 5
Average: 5

Male: -
Female: 100
Unknown: -
CNV Size: 1324741

Deletion: NA
Duplication: NA

Total CNV: NA
Discovery Method:

aCGH

Validation Method:

-

Platform: BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
Software: -
Algorithm: -
Geographical Ancestry: -
Show all Control Details Show all Cohort Details

levy_11_ASD_discovery_controls-11154.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: 24696134
CNV End: 24759153
CNV Size: 63020
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, IRX1P1, ANKRD20A10P, ATP12A

sanders_11_ASD_discovery_controls-11154.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 9.9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 24698126
CNV End: 24756895
CNV Size: 58769
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, IRX1P1, ANKRD20A10P, ATP12A

sanders_11_ASD_discovery_controls-11233.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 4.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 24357843
CNV End: 24431308
CNV Size: 73465
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: CYCSP33, TPTE2P6, PARP4

sanders_11_ASD_discovery_controls-11233.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 4.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 22779575
CNV End: 22925582
CNV Size: 146007
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: RPL7AP73, IPMKP1, RFESDP1, BASP1P1, NUS1P2, LINC00621

sanders_11_ASD_discovery_controls-12153.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 16.5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 22853610
CNV End: 22863448
CNV Size: 9838
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12170.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 5.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 23244017
CNV End: 23245158
CNV Size: 1141
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: TATDN2P3, SGCG

sanders_11_ASD_discovery_controls-12613.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 12.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 24357843
CNV End: 24425457
CNV Size: 67614
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: CYCSP33, TPTE2P6, PARP4

sanders_11_ASD_discovery_controls-12613.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 12.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 22779575
CNV End: 22932509
CNV Size: 152934
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: RPL7AP73, IPMKP1, RFESDP1, BASP1P1, NUS1P2, LINC00621

sanders_11_ASD_discovery_controls-12723.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 8.7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 22971458
CNV End: 22979379
CNV Size: 7921
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_controls-NIMH_210

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22769941
CNV End: 22873664
CNV Size: 103723
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL7AP73, IPMKP1, RFESDP1

girirajan_11_ASD_discovery_controls-NIMH_229

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 24699942
CNV End: 24752151
CNV Size: 52209
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, IRX1P1, ANKRD20A10P, ATP12A

krumm_13_ASD_discovery_controls-control11154.s1

Clinical Profile:

Unaffected sibling from SSC quad family 11154. SRS score of 45.

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 24701934
CNV End: 24711522
CNV Size: 9588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, ATP12A

krumm_15_ASD_discovery_controls-control11154.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: 24698657
CNV End: 24711522
CNV Size: 12865
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, ATP12A

poultney_13_ASD_discovery_controls-control05C45724

Clinical Profile:

NIMH Control (NIMH ID 98250)

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 23203693
CNV End: 24321770
CNV Size: 1118077
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, LINC00327, C1QTNF9, SGCG, SACS, TNFRSF19, MIPEP, SPATA13

poultney_13_ASD_discovery_controls-control04C29259A

Clinical Profile:

NIMH Control (NIMH ID 86407)

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 24698656
CNV End: 24711524
CNV Size: 12869
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, ATP12A

engchuan_15_ASD_discovery_controls-controlB106347_1007873601

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: 24711223
CNV End: 24756895
CNV Size: 45672
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IRX1P1, ANKRD20A10P, ATP12A

engchuan_15_ASD_discovery_controls-controlB395936_1007853800

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: 24011704
CNV End: 24109582
CNV Size: 97878
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB416446_0067942614

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: 24354330
CNV End: 24436036
CNV Size: 81706
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CYCSP33, TPTE2P6, PARP4

engchuan_15_ASD_discovery_controls-controlB416446_0067942614

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: 22779575
CNV End: 22922858
CNV Size: 143283
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL7AP73, IPMKP1, RFESDP1, BASP1P1, NUS1P2, LINC00621

engchuan_15_ASD_discovery_controls-controlB594795_1007871727

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: 23064071
CNV End: 23873089
CNV Size: 809018
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, HMGA1P6, LINC00327, SGCG, SACS, TNFRSF19, MIPEP

engchuan_15_ASD_discovery_controls-controlB829544_0057060999

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: 24626459
CNV End: 24675922
CNV Size: 49463
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900060_900060

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: 24698126
CNV End: 24761990
CNV Size: 63864
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, IRX1P1, ANKRD20A10P, ATP12A

engchuan_15_ASD_discovery_controls-controlHABC_900939_900939

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: 24357843
CNV End: 24436036
CNV Size: 78193
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CYCSP33, TPTE2P6, PARP4

engchuan_15_ASD_discovery_controls-controlHABC_900939_900939

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: 22775594
CNV End: 22925582
CNV Size: 149988
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL7AP73, IPMKP1, RFESDP1, BASP1P1, NUS1P2, LINC00621

engchuan_15_ASD_discovery_controls-controlHABC_901071_901071

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: 24700538
CNV End: 24756889
CNV Size: 56351
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, IRX1P1, ANKRD20A10P, ATP12A

engchuan_15_ASD_discovery_controls-controlHABC_901073_901073

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: 24700538
CNV End: 24756889
CNV Size: 56351
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY1P7, RPL26P34, IRX1P1, ANKRD20A10P, ATP12A
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