Copy Number Variants / 13q21.2

13q21.2

Case population data
Control population data
Type
Deletion-Duplication
Average Length
126237
Range
59276146-59888086
Associated Human Genes
DIAPH3
Associated Animal Models
-
Autism Reports
9
Populations
15 (9 case / 6 control)
Individuals
43 (29 case / 14 control)
Summary

Summary statement in development

Reports related to 13q21.2 (9 Reports)
# Type Title Author, Year
1 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)
2 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)
3 Major Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi... Lesca G , et al. (2012)
4 Major Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
5 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)
6 Major Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in... Chong WW , et al. (2014)
7 Minor Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (2014)
8 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
9 Major Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes. Lintas C , et al. (2017)
Show all Case Details Show all Cohort Details

13q21.2

Description:

Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).

Diagnosis:

Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,

Lesca G , et al. (2012)
Cohort Size: 61

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 228000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

qPCR

Platform: Agilent SurePrint G3 Human CGH Microarray 4x180K
Software: Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
Algorithm: ADM-2
Geographical Ancestry: France

13q21.2

Description:

ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children

Diagnosis:

Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.

Lintas C , et al. (2017)
Cohort Size: 41

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 41555

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

Validation by visual inspection, RT-PCR, or PCR

Platform: Agilent Human Genome CGH SurePrint G3 4x180K
Software: Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Algorithm: ADM-2
Geographical Ancestry: Italy

13q21.2

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: 75
Female: 25
Unknown: -
CNV Size: 611940

Deletion: 14
Duplication: 2

Total CNV: 16
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&

13q21.2

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: 258138

Deletion: 4
Duplication: 1

Total CNV: 5
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

13q21.2

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: 16886

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

aCGH (NimbleGen 135K array)

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

13q21.2

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: 519315

Deletion: 1
Duplication: 0

Total CNV: 1
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

13q21.2

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: 133756

Deletion: 1
Duplication: 0

Total CNV: 1
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

13q21.2

Description:

Patients referred to clinical genetics service and recruited for CMA application study

Diagnosis:

Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)

Chong WW , et al. (2014)
Cohort Size: 105

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1090000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

aCGH (NimbleGen)

Platform: High-resolution 180K oligoarray
Software: -
Algorithm: -
Geographical Ancestry: Chinese

13q21.2

Description:

Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study

Diagnosis:

Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.

Deciphering Developmental Disorders Study (2014)
Cohort Size: 1133

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 51608

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH and/or exome sequencing

Validation Method:

None

Platform: Agilent 2x1M array (aCGH); Aligent Exome+ (exome seq.)
Software: Cnsolidate (aCGH), CoNVex
Algorithm: -
Geographical Ancestry: UK and Ireland
Show all Case Details Show all Cohort Details

lesca_12_EP_discovery_cases-caseDX94

Clinical Profile:

Phenotype: s-CSWSS . Seizure Characteristics: Nocturnal, absences. Autistic features: No. ADHD features: No. Other features: Right frontal PMG.

Cognitive Profile:

Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 76, performance IQ 51 (at 11 years of age).

Lesca G , et al. (2012)
Primary Diagnosis: Epilepsy

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 59845469
CNV End: 60073387
CNV Size: 228000
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL375P, DIAPH3-AS1, DIAPH3

lintas_17_ASD_discovery_cases-case7.1

Clinical Profile:

No additional clinical information available

Cognitive Profile:

-

Lintas C , et al. (2017)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: -
CNV End: -
CNV Size: 41555
Validation Description: Validation by visual inspection, RT-PCR, or PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: -
Gene Content: -

lintas_17_ASD_discovery_cases-case7.2

Clinical Profile:

No additional clinical information available

Cognitive Profile:

-

Lintas C , et al. (2017)
Primary Diagnosis: Autism

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: -
CNV End: -
CNV Size: 41555
Validation Description: Validation by visual inspection, RT-PCR, or PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_cases-11158.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39

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

Age: 10.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 59609913
CNV End: 59623595
CNV Size: 13682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11158.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39

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

Age: 10.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 60636327
CNV End: 60650384
CNV Size: 14057
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11322.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: 4.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 60690560
CNV End: 60692241
CNV Size: 1681
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11488.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 80

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 58800694
CNV End: 58803679
CNV Size: 2985
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11542.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121

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

Age: 12.5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 60835671
CNV End: 60885510
CNV Size: 49839
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11818.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30

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

Age: 12.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 59609913
CNV End: 59623595
CNV Size: 13682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12201.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116

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

Age: 13.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 58654155
CNV End: 58660163
CNV Size: 6008
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12220.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13

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

Age: 14.4

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 59600203
CNV End: 59623595
CNV Size: 23392
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12225.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77

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

Age: 15.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 59609913
CNV End: 59623595
CNV Size: 13682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12287.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28

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

Age: 7.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 59609913
CNV End: 59623595
CNV Size: 13682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12445.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91

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

Age: 10.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 58798304
CNV End: 58802961
CNV Size: 4657
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12628.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120

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

Age: 11.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 60101919
CNV End: 60124329
CNV Size: 22410
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13076.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102

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

Age: 6.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 59609913
CNV End: 59623595
CNV Size: 13682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13076.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102

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

Age: 6.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 58702012
CNV End: 59313952
CNV Size: 611940
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: DNAJA1P1, HMGN2P39, POLR3KP1, RPP40P2

sanders_11_ASD_discovery_cases-13166.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45

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

Age: 9.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 59609913
CNV End: 59623595
CNV Size: 13682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13233.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84

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

Age: 13.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 59609913
CNV End: 59623595
CNV Size: 13682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3049_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: 58389683
CNV End: 58498275
CNV Size: 108592
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_cases-12628.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: 60100760
CNV End: 60117646
CNV Size: 16886
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case13017_223

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: 58135777
CNV End: 58189525
CNV Size: 53748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case14096_1660

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: 59229665
CNV End: 59286893
CNV Size: 57228
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case14310_4270

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: 59852121
CNV End: 60110259
CNV Size: 258138
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL375P, DIAPH3-AS1, DIAPH3

engchuan_15_ASD_discovery_cases-case14339_4530

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: 59852121
CNV End: 60110259
CNV Size: 258138
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL375P, DIAPH3-AS1, DIAPH3

fitzgerald_14_ASD/DD/ID_discovery_cases-case000006

Clinical Profile:

Clinical profile N/A; CNV from Supplementary Table S9

Cognitive Profile:

N/A

Deciphering Developmental Disorders Study (2014)
Primary Diagnosis: N/A

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 59728820
CNV End: 59780428
CNV Size: 51608
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060

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: 59774180
CNV End: 60293495
CNV Size: 519315
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: RN7SL375P, RNY4P28, LINC00434, TARDBPP2, DIAPH3-AS2, DIAPH3-AS1, DIAPH3

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-301

Clinical Profile:

Diagnosis of cerebellar hypoplasia (CBLH).

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 60416372
CNV End: 60550127
CNV Size: 133756
Validation Description: qPCR (CNV not detected)
Primary Disorder Inheritence: -
CNV Inheritance: Biparental/Diploid copy number
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4324

Clinical Profile:

Mild autistic features

Cognitive Profile:

-

Chong WW , et al. (2014)
Primary Diagnosis: Autistic features

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 59402609
CNV End: 60495257
CNV Size: 1090000
Validation Description: Nimblegen aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-88P, RN7SL375P, RNY4P28, LINC00434, TARDBPP2, DIAPH3-AS2, DIAPH3-AS1, TDRD3, DIAPH3
Show all Control Details Show all Cohort Details

13q21.2

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: 281159

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

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

13q21.2

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: 75
Female: 25
Unknown: -
CNV Size: 599837

Deletion: 7
Duplication: 1

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: -

13q21.2

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: 128970

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

13q21.2

Description:

Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events

Diagnosis:

Control

Girirajan S , et al. (2013)
Cohort Size: 2090

Age Min: -
Age Max: -
Average: -

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

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1.2M SNP microarray
Software: -
Algorithm: -
Geographical Ancestry: NA

13q21.2

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
Show all Control Details Show all Cohort Details

nord_11_ASD_discovery_controls-04C27090

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: 281159
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: -
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: 58800694
CNV End: 58802961
CNV Size: 2267
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11962.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 7.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 58800694
CNV End: 58802961
CNV Size: 2267
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12052.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 5.4

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 59600203
CNV End: 59623595
CNV Size: 23392
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12220.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 16.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 59600203
CNV End: 59623595
CNV Size: 23392
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-12867.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 18.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 58800694
CNV End: 58802961
CNV Size: 2267
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-13076.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 19.5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 59609913
CNV End: 59623595
CNV Size: 13682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-13076.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 19.5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 58702012
CNV End: 59301849
CNV Size: 599837
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: DNAJA1P1, HMGN2P39, POLR3KP1, RPP40P2

sanders_11_ASD_discovery_controls-13183.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 10.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 59609913
CNV End: 59623595
CNV Size: 13682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_controls2-control20

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

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

girirajan_13a_ASD_discovery_controls2-control21

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

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

engchuan_15_ASD_discovery_controls-controlB732969_0067942655

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: 58349239
CNV End: 58478209
CNV Size: 128970
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900416_900416

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: 58389683
CNV End: 58498960
CNV Size: 109277
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902573_902573

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: 58394452
CNV End: 58498960
CNV Size: 104508
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
Genes associated with 13q21.2(0 Models)
DIAPH3 3  /  11 Rare Single Gene Mutation, Genetic Association
Score
5
Submit New Gene

Report an Error