Molecular autopsy
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
Source London South GLH was added to KCNQ1.
Source North West GLH was added to KCNQ1. Added phenotypes Atrial fibrillation, familial, 3 (607554); Jervell and Lange-Nielsen syndrome (220400); Long QT syndrome-1 (192500); Short QT syndrome 2 (609621) for gene: KCNQ1 Publications for gene KCNQ1 were changed from 25974115; 15159330; 26168993; 16109388; 29697308; 26346102 to 19716085; 16226079; 16301704
Added phenotypes Short QT syndrome; Hypertrophic cardiomyopathy; Long QT syndrome for gene: KCNQ1
gene: KCNQ1 was added gene: KCNQ1 was added to Molecular autopsy. Sources: Expert Review Green 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 25974115; 15159330; 26168993; 16109388; 29697308; 26346102 Phenotypes for gene: KCNQ1 were set to Short QT syndrome 2 609621; Short QT-interval syndrome; Idiopathic Ventricular Fibrillation; Long QT syndrome-1