Catecholaminergic polymorphic VT
Gene: KCNJ2Comment on phenotypes: This gene is also associated with Short QT syndrome 3, OMIM:609622, Short QT syndrome type 3, MONDO:0012314, Atrial fibrillation, familial, 9, OMIM:613980, Atrial fibrillation, familial, 9, MONDO:0013513, Andersen syndrome, OMIM:170390, Andersen-Tawil syndrome, MONDO:0008222Created: 2 Mar 2021, 1:06 p.m. | Last Modified: 2 Mar 2021, 1:06 p.m.
Panel Version: 2.18
Andersen syndrome (OMIM 170390), Atrial fibrillation, familial, 9 (OMIM 613980), Short QT syndrome 3 (OMIM 609622)Created: 25 Mar 2019, 4:30 p.m.
No evidence for this gene assoc with CPVT. PMID:27761157Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
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
On the Inherited Cardiac Condition Genes panel for Catecholaminergic polymorphic ventricular tachycardia reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 2.Created: 19 Feb 2016, 11:34 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: KCNJ2 were changed from Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Phenotypes for gene: KCNJ2 were changed from catecholaminergic polymorphic ventricular tachycardia; Atrial fibrillation, familial, 9 (613980); Andersen syndrome (170390); Short QT syndrome 3 (609622) to Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222
Source South West GLH was added to KCNJ2.
Source North West GLH was added to KCNJ2. Mode of inheritance for gene KCNJ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 to 27761157
22.07.2016: Panel revised according to reviews and further evidence. Confirmed the final panel with Karen McGuire at the Oxford Medical Genetics Laboratory prior to promoting to version 1.
KCNJ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: UKGTN
KCNJ2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Expert list