Long QT syndrome

Gene: KCNQ1

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, 1:52 p.m. | Last Modified: 12 Jun 2020, 1:52 p.m.

Panel Version: 2.9

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

Comment on mode of inheritance: MOI was corrected.

Created: 30 Sep 2019, 12:52 p.m. | Last Modified: 30 Sep 2019, 12:52 p.m.

Panel Version: 1.41

Publications

• 9927399

Green List (high evidence)

Atrial fibrillation, familial, 3 (OMIM 607554), Jervell and Lange-Nielsen syndrome (OMIM 220400 - AR), Long QT syndrome 1 (OMIM 192500), Short QT syndrome 2 (609621), {Long QT syndrome 1, acquired, susceptibility to} (OMIM 192500)

Created: 25 Mar 2019, 4:30 p.m.

Numerous literature evidence from family studies and functional studies - established gene. PMID:19716085. PMID:17470695. PMID: 26344792. PMID: 16253915.

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Green List (high evidence)

Gene on Royal Brompton Panel, definitive LQTS gene.

Created: 19 Mar 2019, 3:22 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
LQTS-1 (192500); SQTS 2 (609621); JLNS (220400); Atrial fibrillation, familial, 3 (607554)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 643 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with long QT syndrome 1, definitive association with Jervell and Lange-Nielsen syndrome (accessed 29/01/2019).

Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Long QT syndrome-1 (192500); Short QT syndrome 2 (609621); Jervell and Lange-Nielsen syndrome (220400); Atrial fibrillation, familial, 3 (607554)

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 = 483.

Created: 19 Feb 2016, 10:36 a.m.

Publications

• doi:10.​1007/​s12265-016-9673-5
• 8528244

Comment when marking as ready: Sufficient expert evidence and in OMIM

Created: 29 Jan 2016, 1:13 p.m.

Comment on mode of inheritance: Biallelie causes Jervell and Lange-Nielsen syndrome (220400) associated with long-QT

Created: 29 Jan 2016, 1:12 p.m.

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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