Genetic Epilepsy
Gene: KCNQ5

KCNQ5 (potassium voltage-gated channel subfamily Q member 5)
EnsemblGeneIds (GRCh38): ENSG00000185760
EnsemblGeneIds (GRCh37): ENSG00000185760
OMIM: 607357, Gene2Phenotype
KCNQ5 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported with de novo missense variants in this gene and a neurodevelopmental disorder, including epileptic encephalopathy in some. Three of the variants demonstrated to be LoF and one GoF. Further individual reported in PMID 30359776 with mild ID and absence epilepsy and an intragenic duplication causing likely LoF.
Created: 2 May 2021, 12:48 a.m. | Last Modified: 2 May 2021, 12:48 a.m.

Panel Version: 0.1066

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 46, MIM# 617601

Publications

Created: 2 May 2021, 12:48 a.m.
Last Modified: 2 May 2021, 12:48 a.m.
Panel version: 0.1066

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

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

Phenotypes

Mental retardation, autosomal dominant 46, MIM# 617601

OMIM

607357

Clinvar variants

Variants in KCNQ5

Penetrance

None

Publications

Panels with this gene