Incidentalome
Gene: HCN4
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
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: ClinGenCreated: 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
Tag cardiac tag was added to gene: HCN4.
Gene: hcn4 has been classified as Green List (High Evidence).
Phenotypes for gene: HCN4 were changed from to Sick sinus syndrome 2, MIM# 163800; Aortopathy
Publications for gene: HCN4 were set to
Mode of inheritance for gene: HCN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: HCN4 was added gene: HCN4 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HCN4 was set to Unknown