Genetic Epilepsy
Gene: HCN4

HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4)
EnsemblGeneIds (GRCh38): ENSG00000138622
EnsemblGeneIds (GRCh37): ENSG00000138622
OMIM: 605206, Gene2Phenotype
HCN4 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two families reported. Variant did not segregate with disease in one (PMID 29588962), and was present in two affected sibs from another family reported in PMID 30127718, some functional data to support impact of variant on protein function.
Sources: Expert list
Created: 11 Sep 2021, 1:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Epilepsy, idiopathic generalized, susceptibility to, 18}, MIM# 619521

Publications

Created: 11 Sep 2021, 1:34 a.m.

Panel version: 0.1193

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Expert list

Phenotypes

{Epilepsy, idiopathic generalized, susceptibility to, 18}, MIM# 619521

OMIM

605206

Clinvar variants

Variants in HCN4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hcn4 has been classified as Red List (Low Evidence).

11 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes