Long QT syndrome
Gene: KCNH2
Penetrance for this gene has been changed from "complete" to "incomplete" based on PMID: 9927399 and also review from Claire Kirk (UCD).Created: 12 Jun 2020, 1:53 p.m. | Last Modified: 12 Jun 2020, 1:53 p.m.
Panel Version: 2.10
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
Long QT syndrome 2 (OMIM 613688), Short QT syndrome 1 (OMIM 609620), {Long QT syndrome 2, acquired, susceptibility to} (OMIM 613688)Created: 25 Mar 2019, 4:30 p.m.
Literature/functional evidence for this established LQT gene. PMID:28749435. PMID:19716085. PMID: 22429796.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
On Royal Brompton diagnostic panel. Several pathogenic variants detected in our lab.Created: 19 Mar 2019, 3:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Long QT syndrome-2 (613688); Short QT syndrome 1 (609620)
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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.
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 = 741.
Created: 19 Feb 2016, 10:38 a.m.
Publications
Comment when marking as ready: Sufficient expert reviewsCreated: 29 Jan 2016, 12:55 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: KCNH2 were set to 19716085; 31358886; 26888179; 7889573; 9927399
Publications for gene: KCNH2 were set to 19716085; 31358886; 26888179; 7889573
Source South West GLH was removed from KCNH2. Source London South GLH was removed from KCNH2. Source North West GLH was removed from KCNH2. Penetrance for gene KCNH2 was set from to Complete
Publications for gene: KCNH2 were set to 19716085; 31358886
Publications for gene: KCNH2 were set to 19716085
Source South West GLH was added to KCNH2. Mode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 to 19716085 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
KCNH2 was added to Long QT syndromepanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene KCNH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNH2 was added to Long QT syndromepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory
Model of inheritance for gene KCNH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNH2 was added to Long QT syndromepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory
Model of inheritance for gene KCNH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNH2 was added to Long QT syndromepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory
Model of inheritance for gene KCNH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNH2 was added to Long QT syndromepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory
KCNH2 was added to Long QT syndromepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory