Sudden cardiac death - previous panel
Gene: KCNQ1
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. 643 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with long QT syndrome 1, definitive association with Jervell and Lange-Nielsen syndrome (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Long QT syndrome-1 (192500); Short QT syndrome 2 (609621); Jervell and Lange-Nielsen syndrome (220400); Atrial fibrillation, familial, 3 (607554)
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: KCNQ1 was added gene: KCNQ1 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KCNQ1 were set to 19716085; 16301704; 16226079 Phenotypes for gene: KCNQ1 were set to Atrial fibrillation, familial, 3 (607554); Long QT syndrome-1 (192500); Idiopathic Ventricular Fibrillation; Short QT-interval syndrome; Long QT syndrome; Hypertrophic cardiomyopathy; Jervell and Lange-Nielsen syndrome (220400); Long QT syndrome-1; Short QT syndrome; Short QT syndrome 2 609621; Short QT syndrome 2 (609621)