Sudden cardiac death - previous panel
Gene: KCNE1
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. 49 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: moderate association with Jervell and Lange-Nielsen syndrome 2 (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
Jervell and Lange-Nielsen syndrome 2 (612347); Long QT syndrome-5 (613695)
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: KCNE1 was added gene: KCNE1 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KCNE1 were set to 26168993; 19716085; 16301704 Phenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome 2 (612347); Catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome; Long QT syndrome-5 (613695); Long QT syndrome-5