Copy Number Variants / 13q31.3

13q31.3

Case population data
Control population data
Type
Deletion-Duplication
Average Length
240983
Range
89726966-90134219
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
12
Populations
18 (12 case / 6 control)
Individuals
50 (39 case / 11 control)
Summary

Summary statement in development

Reports related to 13q31.3 (12 Reports)
# Type Title Author, Year
1 Major Structural variation of chromosomes in autism spectrum disorder. Marshall CR , et al. (2008)
2 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
3 Major De novo rates and selection of large copy number variation. Itsara A , et al. (2010)
4 Minor Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
5 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)
6 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
7 Minor Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
8 Major Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5. Kannu P , et al. (2013)
9 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)
10 Major Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17~92 cluster. Hemmat M , et al. (2014)
11 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
12 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
Show all Case Details Show all Cohort Details

13q31.3

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: 5680

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

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: 126859

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

Description:

ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection

Diagnosis:

ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)

Itsara A , et al. (2010)
Cohort Size: 1330

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 65137

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 90
Female: 10
Unknown: -
CNV Size: 352931

Deletion: 5
Duplication: 5

Total CNV: 10
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

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: 357582

Deletion: 1
Duplication: 2

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

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: 456885

Deletion: 8
Duplication: 3

Total CNV: 11
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

Description:

Male proband re-referred to genetics lab at age of 3 years for assessment of autism.

Diagnosis:

Developmental delay, autistic behavior, postaxial polydactyly, and overgrowth

Kannu P , et al. (2013)
Cohort Size: 1

Age Min: 54
Age Max: 54
Average: 54

Male: 100
Female: -
Unknown: -
CNV Size: 909500

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 407254

Deletion: 0
Duplication: 3

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

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: 76031

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

Description:

9-year-old male proband from a pedigree with five maternal half-brothers presenting with autism and developmental delay; their mother also presented with developmental delay

Diagnosis:

Case presented with autism spectrum disorder (ASD), developmental delay (DD), speech delay, attention deficit hyperactivity disorder (ADHD), dysmorphic features, short stature, and digital abnormalities.

Hemmat M , et al. (2014)
Cohort Size: 1

Age Min: 108
Age Max: 108
Average: 108

Male: 100
Female: -
Unknown: -
CNV Size: 516000

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

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: 2123578

Deletion: 5
Duplication: 0

Total CNV: 5
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

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: 303879

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Case Details Show all Cohort Details

yin_16_ASD_discovery_cases-case451

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: 93039812
CNV End: 93045491
CNV Size: 5680
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: -

itsara_10_ASD_discovery_cases-HI1493

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 89750374
CNV End: 89815511
CNV Size: 65137
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: UCSC Build36
Gene Content: -

kannu_13_DD/ASD_discovery_cases-case1

Clinical Profile:

Case re-referred at age of 3 years for assessment of autism (no formal diagnosis of ASD noted). Birth/neonatal history: born at 33 weeks 3 days gestation by C-section; pregnancy complicated by type II diabetes, hypertension, and oligohydramnios; mother (41 years old at time of delivery) given single dose of corticosteroids prior to delivery; birth weight of 1813 g (25th %ile), lenght of 40 cm (3rd %ile), and head circumference of 32 cm (25th %ile); telecanthus and bilateral postaxial polydactyly (which was later ligated) noted; cranial ultrasound revealed right choroid plexus cyst; echocardiogram disclosed patent ductus ateriosis and two small secundum atrial septal defects; normal male karyotype (46, XY), 22q11.2 microdeletion excluded by FISH analysis; neonatal course otherwise relatively benign. Developmental milestones: development concerns noted at age of 11 months (slept poorly at night, did not vocalize); formal developmental assessment at age of 2 years suggested autistic behavior and developmental delay; non-verbal and did not use gestures to communicate; delays in gross motor development (difficulties in climbing stairs, running, throwing, or catching a ball). Language and communication evaluation: few single words in vocabulary. Behavioral/psychiatric evaluation: autistic behavior suggested at age of 2 years; preferred playing by himself, easily upset by other children, easily startled by sound, adapted poorly to change, failure to respond to name, failure to demonstrate stranger anxiety or imitation skills. Brain imaging: cerebral MRI at age of 4 years showed no structural brain abnormalities. Other medical history: bilateral inguinal hernia surgery at age of 2 years 11 months; recurrent wheeze with respiratory infections. Dysmorphic features: prominent, posteriorly-rotated, low-set ears, bilateral epicanthic folds, up-slanting palpebral fissures, prominent teeth, high-arched palate, prominent jaw. Growth parameters: weight of 17.1 kg (75

Cognitive Profile:

Developmental delay; case making slow progress with development at age of 4.5 years.

Kannu P , et al. (2013)
Primary Diagnosis: Developmental delay and autistic behavior

Age: 4.5 yrs.

Gender: M
Primary Disorder Inheritence: Maternal

Family Profile: Possibly multi-generational
CNV Start: 91520000
CNV End: 92430000
CNV Size: 909500
Validation Description: aCGH, QMPSF
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Possibly multi-generational
Genome Build: GRCh37/hg19
Gene Content: LINC00410, LINC00379, MIR17HG, MIR17, MIR18A, MIR19A, MIR20A, MIR19B1, MIR92A1, GPC5

prasad_12_ASD_discovery_cases-caseL879

Clinical Profile:

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

Cognitive Profile:

-

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 92194931
CNV End: 92202851
CNV Size: 7921
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

pinto_10_ASD_discovery_cases-case5115_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: 93587745
CNV End: 93714603
CNV Size: 126859
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case55634

Clinical Profile:

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

Cognitive Profile:

-

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 89255637
CNV End: 89314434
CNV Size: 58798
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case81155

Clinical Profile:

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

Cognitive Profile:

-

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 93509199
CNV End: 93721180
CNV Size: 211982
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case81155

Clinical Profile:

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

Cognitive Profile:

-

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 89732291
CNV End: 90085221
CNV Size: 352931
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_cases-11284.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 122; non-verbal IQ, 117; verbal IQ, 125

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 89181459
CNV End: 89288884
CNV Size: 107425
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11522.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 90206640
CNV End: 90255260
CNV Size: 48620
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11868.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 91469869
CNV End: 91827451
CNV Size: 357582
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

prasad_12_ASD_discovery_cases-case102830

Clinical Profile:

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

Cognitive Profile:

-

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 90958823
CNV End: 91067952
CNV Size: 109130
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case110953

Clinical Profile:

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

Cognitive Profile:

-

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 89661145
CNV End: 89665867
CNV Size: 4723
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case138145L

Clinical Profile:

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

Cognitive Profile:

-

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 91325119
CNV End: 91347213
CNV Size: 22095
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case146442L

Clinical Profile:

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

Cognitive Profile:

-

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 91146602
CNV End: 91160878
CNV Size: 14277
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

prasad_12_ASD_discovery_cases-case146449L

Clinical Profile:

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

Cognitive Profile:

-

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 88810171
CNV End: 88818771
CNV Size: 8601
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

engchuan_15_ASD_discovery_cases-case2201_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: 92404084
CNV End: 92484383
CNV Size: 80299
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case3148_4

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 93366279
CNV End: 93461051
CNV Size: 94772
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case3429_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: 89279420
CNV End: 89442958
CNV Size: 163538
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case4255_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: 89227194
CNV End: 89684079
CNV Size: 456885
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case4418_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: 92946883
CNV End: 92990353
CNV Size: 43470
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case4420_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: 92832935
CNV End: 92995217
CNV Size: 162282
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case4508_1

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 93773789
CNV End: 93822232
CNV Size: 48443
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case5115_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: 93587745
CNV End: 93714603
CNV Size: 126858
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case5291_4

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 89258066
CNV End: 89316913
CNV Size: 58847
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case5355_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: 90961358
CNV End: 91066847
CNV Size: 105489
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

marshall_08_ASD_discovery_cases-NA0048-000

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 93288520
CNV End: 93344600
CNV Size: 56081
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: NCBI Build35
Gene Content: -

marshall_08_ASD_discovery_cases-SK0326-003

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 93497400
CNV End: 93732931
CNV Size: 235532
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: NCBI Build35
Gene Content: -

marshall_08_ASD_discovery_cases-SK0326-003

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 89726966
CNV End: 90134219
CNV Size: 407254
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: NCBI Build35
Gene Content: -

prasad_12_ASD_discovery_cases-caseMM0234-5

Clinical Profile:

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

Cognitive Profile:

-

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 93594054
CNV End: 93714629
CNV Size: 120576
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

girirajan_13a_ASD_discovery_cases-AU1165302

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: Multiplex
CNV Start: 93475099
CNV End: 93551130
CNV Size: 76031
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: hg18
Gene Content: -

hemmat_14_ASD/DD/ADHD_discovery_cases-case1

Clinical Profile:

Birth/neonatal history: born at full term via vaginal delivery to a G4P4A0L4 25-year-old mother without any known maternal complications or infections; birth weight of 3580 g; no prenatal, perinatal, or postnatal complications noted. Developmental milestones: walking at 12 months; did not speak words until age of 3 years. Language and communication evaluation: speech delay. Motor and musculoskeletal evaluation: metacarpal and metatarsal anomalies, flat feet, lower facial weakness; digit anomalies including brachydactyly, wide nail beds, deviation of fourth digits to the ulnar side, radially displaced thumbs, mild clinodactyly; hand breadth, hand length, and hand circumference were <1% for age and gender. Behavioral/psychiatric evaluation: autism spectrum disorder, attention deficit hyperactivity disorder. Dysmorphic features: hypertelorism, downward slanting palpebral fissures, frequent dental caries. Growth parameters: short stature (10th %ile), mild macrocephaly in relation to body size. Family history: mother with short stature, digital abnormalities, and developmental delay (positive for 13q31.3 duplication); case had five half-brothers resulting from his mother's four different marriages, all of whom reported to exhibit developmental delay and autism; one half-brother also presented with short stature and digital abnormalities.

Cognitive Profile:

Developmental delay; interventions included speech and physical therapy, an individualized education plan, and special education for diagnoses of developmental delay and ASD.

Hemmat M , et al. (2014)
Primary Diagnosis: ASD, DD, and ADHD

Age: 9 yrs.

Gender: M
Primary Disorder Inheritence: Possibly maternal

Family Profile: Multiplex
CNV Start: 91989261
CNV End: 92504857
CNV Size: 516000
Validation Description: FISH
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: hg19
Gene Content: MIR17, MIR18A, MIR19A, MIR20A, MIR19B1, MIR92A1, GPC5

engchuan_15_ASD_discovery_cases-case8472_201

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: 90490028
CNV End: 90606081
CNV Size: 116053
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0

Clinical Profile:

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

Cognitive Profile:

Developmental delay: yes. Intellectual disability: yes.

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 92921176
CNV End: 93225054
CNV Size: 303879
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000244

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: 91065311
CNV End: 91329264
CNV Size: 263953
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001622

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: 90424007
CNV End: 92547585
CNV Size: 2123578
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003974

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: 89665667
CNV End: 90816741
CNV Size: 1151074
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004338

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: 90882152
CNV End: 91078467
CNV Size: 196315
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005097

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: 92795312
CNV End: 93079708
CNV Size: 284396
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -
Show all Control Details Show all Cohort Details

13q31.3

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: 5680

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

Description:

PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.

Diagnosis:

Control

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

Age Min: -
Age Max: -
Average: -

Male: 90
Female: 10
Unknown: -
CNV Size: 352931

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

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: 236768

Deletion: 2
Duplication: 1

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

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: 464514

Deletion: 5
Duplication: 3

Total CNV: 8
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

Description:

German PopGen project and entries from Database of Genomic Variants

Diagnosis:

Controls

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

Description:

Non-disease controls from Ontario population

Diagnosis:

Controls

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q31.3

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

sanders_11_ASD_discovery_controls-11284.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 89181459
CNV End: 89288884
CNV Size: 107425
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11522.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 90206640
CNV End: 90254869
CNV Size: 48229
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11843.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 16

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 90863094
CNV End: 91099862
CNV Size: 236768
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-control110036004877_

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: 89219565
CNV End: 89684079
CNV Size: 464514
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB742876_1007852892

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: 90859879
CNV End: 91099862
CNV Size: 239983
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB776367_1007875364

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: 91758694
CNV End: 91841374
CNV Size: 82680
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900157_900157

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: 91427473
CNV End: 91653135
CNV Size: 225662
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900157_900157

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: 91696453
CNV End: 91966414
CNV Size: 269961
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900839_900839

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: 92082662
CNV End: 92149224
CNV Size: 66562
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900904_900904

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: 90859879
CNV End: 91099862
CNV Size: 239983
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_901214_901214

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: 89219565
CNV End: 89684079
CNV Size: 464514
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -
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