Progressive cardiac conduction disease
Gene: HCN4
Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.46
Comment on phenotypes: This gene is also associated with Brugada syndrome 8 613123Created: 2 Mar 2021, 3:34 p.m. | Last Modified: 2 Mar 2021, 3:34 p.m.
Panel Version: 1.11
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Associated with sinus node bradycardia in OMIM and HGMD.Created: 25 Sep 2019, 2:16 p.m. | Last Modified: 25 Sep 2019, 2:16 p.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brugada syndrome 8 613123; Sick sinus syndrome 2 163800
Publications
Sick sinus syndrome 2 (163800)Created: 25 Mar 2019, 4:30 p.m.
Atrial fibrillation, Bradycardia & left ventricular noncompaction cardiomyopathy; Sick Sinus Syndrome on HGMD, numerous reports. Pubmed - 28104484Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: HCN4 were changed from Brugada syndrome 8 613123; Sick sinus syndrome 2 163800 to Sick sinus syndrome 2, OMIM:163800
Source Expert Review Green was added to HCN4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: HCN4 were changed from to Brugada syndrome 8 613123; Sick sinus syndrome 2 163800
Publications for gene: HCN4 were set to
Gene: hcn4 has been classified as Amber List (Moderate Evidence).
gene: HCN4 was added gene: HCN4 was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted