Long QT syndrome

Gene: KCNH2

Green List (high evidence)

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

Green List (high evidence)

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

Green List (high evidence)

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)

Green List (high evidence)

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

• 19716085

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

I don't know

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

• doi:10.​1007/​s12265-016-9673-5
• 7889573

Comment when marking as ready: Sufficient expert reviews

Created: 29 Jan 2016, 12:55 p.m.

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice