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Intellectual disability syndromic and non-syndromic

Gene: CNTNAP5

Red List (low evidence)

CNTNAP5 (contactin associated protein like 5)
EnsemblGeneIds (GRCh38): ENSG00000155052
EnsemblGeneIds (GRCh37): ENSG00000155052
OMIM: 610519, Gene2Phenotype
CNTNAP5 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One inherited deletion and four rare missense variants reported in an ASD cohort; causality not established, and no further reports since 2010.
Created: 28 Nov 2019, 7:30 p.m. | Last Modified: 28 Nov 2019, 7:30 p.m.
Panel Version: 0.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Autism
OMIM
610519
Clinvar variants
Variants in CNTNAP5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntnap5 has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNTNAP5 were changed from to Autism

28 Nov 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNTNAP5 were set to

28 Nov 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CNTNAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntnap5 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNTNAP5 was added gene: CNTNAP5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNTNAP5 was set to Unknown