Molecular autopsy
Gene: KCNH2
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. 947 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with long QT syndrome 2, 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
Long QT syndrome-2 (613688); Short QT syndrome 1 (609620)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to KCNH2.
Source North West GLH was added to KCNH2. Added phenotypes Short QT syndrome 1 (609620); Long QT syndrome-2 (613688) for gene: KCNH2 Publications for gene KCNH2 were changed from 19174314; 16011830; 29016797; 19340359; 29759541; 19439805; 25974115; 16039272; 15828882; 29085299; 18692916; 16043162; 14676148; 21130771; 22194679 to 19716085; 16226079; 16301704
gene: KCNH2 was added gene: KCNH2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH2 were set to 19174314; 16011830; 29016797; 19340359; 29759541; 19439805; 25974115; 16039272; 15828882; 29085299; 18692916; 16043162; 14676148; 21130771; 22194679 Phenotypes for gene: KCNH2 were set to ventricular fibrillation; Brugada/Brugada like syndrome; Brugada; cardiac arrest; Long QT syndrome-2; Long QT syndrome 2 613688; short qt; Short QT syndrome 1 609620; atrial fibrillation Mode of pathogenicity for gene: KCNH2 was set to Other - please provide details in the comments