Short QT syndrome
Gene: KCNJ2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 18 Nov 2019, 2:43 p.m. | Last Modified: 18 Nov 2019, 2:43 p.m.
Panel Version: 1.23
Comment on mode of inheritance: Changed from Unknown back to Monoallelic after discussion with Anna de Burca (Genomics England).Created: 3 Sep 2019, 8:41 a.m. | Last Modified: 3 Sep 2019, 8:41 a.m.
Panel Version: 1.14
Short QT syndrome 3Created: 25 Mar 2019, 4:30 p.m.
1 report associated with LQT. 28609477Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
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 by alternative panel, very few short QT referrals to date. 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
Limited evidence just 1 or 2 families.Created: 25 Jan 2019, 12:52 p.m.
Gain of function variants associated with Short QT in OMIM and not in Gen2Phen. At least 3 variants identified inunrelated cases, together with supportive functional studiesCreated: 15 Nov 2018, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KCNJ2 encodes Kir2.1 protein which is a key component of cardiac inward rectifier potassium current.
KCNJ2 was 3rd gene implicated in SQTS, responsible for SQTS variant 3 (SQT3)
mutations are gain of function.
Sources: LiteratureCreated: 17 Oct 2018, 7:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
short qt; atrial fibrillation; ventricular tacyarrhythmia
Publications
Mode of pathogenicity
Other
Phenotypes for gene: KCNJ2 were changed from Atrial fibrillation, familial, 9 (613980); Short QT syndrome 3 609622; Short QT syndrome 3 (609622); Andersen syndrome (170390); ventricular tacyarrhythmia; short qt; atrial fibrillation 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 West Midlands, Oxford and Wessex GLH was added to KCNJ2.
Publications for gene: KCNJ2 were set to 16226079; 16301704
Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source South West GLH was added to KCNJ2. Mode of inheritance for gene KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
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 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870 to 16226079; 16301704
Jules Hancox: KCNJ2 encodes Kir2.1 protein w
Publications for gene: KCNJ2 were set to PMID: 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870
Source Emory Genetics Laboratory was added to KCNJ2. Source Long QT syndrome (Version 1.5) was added to KCNJ2. Source Expert Review Green was added to KCNJ2. Source UKGTN was added to KCNJ2. Source Radboud University Medical Center, Nijmegen was added to KCNJ2. Added phenotypes Short QT syndrome 3 609622 for gene: KCNJ2 Rating Changed from No List (delete) to Green List (high evidence)
gene: KCNJ2 was added gene: KCNJ2 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ2 were set to PMID: 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870 Phenotypes for gene: KCNJ2 were set to short qt; atrial fibrillation; ventricular tacyarrhythmia Mode of pathogenicity for gene: KCNJ2 was set to Other Review for gene: KCNJ2 was set to GREEN