Molecular autopsy
Gene: KCNJ2
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. 94 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Andersen syndrome (170390); Atrial fibrillation, familial, 9 (613980); Short QT syndrome 3 (609622)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to KCNJ2.
Source North West GLH was added to KCNJ2. Added phenotypes Atrial fibrillation, familial, 9 (613980); Andersen syndrome (170390); Short QT syndrome 3 (609622) for gene: KCNJ2 Publications for gene KCNJ2 were changed from 22311718; 15761194; 22308236; 25691870; 23440193; 12163457; 19710529; 24794859; 22155372; 19285083 to 19716085; 27761157; 16226079; 16301704
gene: KCNJ2 was added gene: KCNJ2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ2 were set to 22311718; 15761194; 22308236; 25691870; 23440193; 12163457; 19710529; 24794859; 22155372; 19285083 Phenotypes for gene: KCNJ2 were set to catecholaminergic polymorphic ventricular tachycardia; ventricular tacyarrhythmia; Short QT syndrome 3 609622; short qt; LONG QT SYNDROME 7 (170390); ANDERSEN SYNDROME (170390); atrial fibrillation Mode of pathogenicity for gene: KCNJ2 was set to Other - please provide details in the comments