Genetic Epilepsy
Gene: CNTNAP2

CNTNAP2 (contactin associated protein like 2)
EnsemblGeneIds (GRCh38): ENSG00000174469
EnsemblGeneIds (GRCh37): ENSG00000174469
OMIM: 604569, Gene2Phenotype
CNTNAP2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome. Typical clinical features include delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioural abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging.
Created: 16 Nov 2021, 1:52 p.m. | Last Modified: 16 Nov 2021, 1:52 p.m.

Panel Version: 0.9759

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cortical dysplasia-focal epilepsy syndrome, MIM# 610042

Publications

Created: 16 Nov 2021, 1:52 p.m.
Last Modified: 16 Nov 2021, 1:52 p.m.
Panel version: Imported from Mendeliome panel version 0.9759

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Cortical dysplasia-focal epilepsy syndrome, MIM# 610042

OMIM

604569

Clinvar variants

Variants in CNTNAP2

Penetrance

None

Publications

Panels with this gene