Short QT syndrome
Gene: HCN4
Gene currently tested by alternative panel, very few short QT referrals to date. 37 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome 1 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brugada syndrome 8 (613123); Sick sinus syndrome 2 (163800)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Not associated with Short QT phenotype in OMIM or in Gen2Phen, listed on the Brugada syndrome panel (Version 1.7).Created: 15 Nov 2018, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source North West GLH was added to HCN4. Added phenotypes Sick sinus syndrome 2 (163800); Brugada syndrome 8 (613123) for gene: HCN4 Publications for gene HCN4 were changed from to 30420954; 19862833; 16301704
Sarah Leigh: Not associated with Short QT p
gene: HCN4 was added gene: HCN4 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7) Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown