Incidentalome
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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with variants in this gene and sick sinus syndrome.
Created: 10 Aug 2022, 4:27 a.m. | Last Modified: 10 Aug 2022, 4:27 a.m.

Panel Version: 0.106

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sick sinus syndrome 2, MIM# 163800

Publications

Created: 10 Aug 2022, 4:27 a.m.
Last Modified: 10 Aug 2022, 4:27 a.m.
Panel version: 0.106

Bryony Thompson (Royal Melbourne Hospital)

I don't know

PMID: 27173043 - Dilation of the ascending aorta was detected in 20 of 26 (77%) HCN4 mutation-positive cases from 7 unrelated families in whom images could be obtained to assess the ascending aorta.
PMID: 30071989 - Classified as Limited by the HTAAD GCEP, downgraded from Moderate due to the absence of aortic dissection and lack of longitudinal data on aortic growth. Categorised as uncertain, because it is a recently reported gene-disease association.
Sources: ClinGen
Created: 13 Jul 2020, 5:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sick sinus syndrome 2 with cardiac noncompaction and ascending aorta dilation

Publications

Created: 13 Jul 2020, 5:24 a.m.

Panel version: Imported from Aortopathy_Connective Tissue Disorders panel version 0.153

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
ClinGen
Victorian Clinical Genetics Services

Phenotypes

Sick sinus syndrome 2, MIM# 163800
Aortopathy

Tags

cardiac

OMIM

605206

Clinvar variants

Variants in HCN4

Penetrance

None

Publications

Panels with this gene