Long 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, 2:09 p.m. | Last Modified: 18 Nov 2019, 2:09 p.m.
Panel Version: 1.44
Andersen syndrome (OMIM 170390), Atrial fibrillation, familial, 9 (OMIM 613980), Short QT syndrome 3 (OMIM 609622)Created: 25 Mar 2019, 4:30 p.m.
Lots of literature evidence for this gene. PMID: 16217063. PMID: 23440193. PMID: 17221872. PMID: 24861851.Created: 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 on Royal Brompton diagnostic panel. Several pathogenic variants reported from our lab. High literature evidenceCreated: 19 Mar 2019, 3:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Andersen Tawil syndrome (170390); Atrial fibrillation, familial, 9 (613980); Short QT syndrome 3 (609622)
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
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.
On the Inherited Cardiac Condition Genes panel 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 = 65.
Created: 19 Feb 2016, 10:42 a.m.
Publications
Comment when marking as ready: Sufficient evidence from experts and OMIM to promote from Amber to GreenCreated: 29 Jan 2016, 1:32 p.m.
Comment on mode of inheritance: Evidence from OMIM for Anderson syndromeCreated: 29 Jan 2016, 1:29 p.m.
Comment on list classification: Both expert reviewers and OMIM show association with Anderson syndrome/Long-QT 7Created: 29 Jan 2016, 1:27 p.m.
Associated with Andersen syndromeCreated: 6 Jan 2016, 5:29 p.m.
Variants in this GENE are reported as part of current diagnostic practice
multiple mutations causative for LQTCreated: 2 Dec 2015, 5:19 p.m.
Publications
Phenotypes for gene: KCNJ2 were changed from Andersen syndrome (170390); Atrial fibrillation, familial, 9 (613980); ANDERSEN SYNDROME (170390); LONG QT SYNDROME 7 (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
Publications for gene: KCNJ2 were set to 19716085
Source South West GLH was added to KCNJ2.
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 12163457 to 19716085 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for KCNJ2 were set to ANDERSEN SYNDROME (170390); LONG QT SYNDROME 7 (170390);
Publications for KCNJ2 were set to 12163457
Mode of inheritance for KCNJ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
KCNJ2 was added to Long QT syndromepanel. Sources: UKGTN
KCNJ2 was added to Long QT syndromepanel. Sources: Expert list,Emory Genetics Laboratory
KCNJ2 was added to Long QT syndromepanel. Sources: Expert list,Emory Genetics Laboratory