1. Panels
  2. Sudden cardiac death - previous panel
  3. KCNQ1
STRs in panel
Prev Next
Regions in panel
Prev Next

Sudden cardiac death - previous panel

Gene: KCNQ1

Green List (high evidence)
KCNQ1 (potassium voltage-gated channel subfamily Q member 1)
EnsemblGeneIds (GRCh38): ENSG00000053918
EnsemblGeneIds (GRCh37): ENSG00000053918
OMIM: 607542, Gene2Phenotype
KCNQ1 is in 9 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: Imported from Molecular autopsy panel version 0.86

James Eden (Manchester)

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

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

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

Panel version: Imported from Molecular autopsy panel version 0.82

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Atrial fibrillation, familial, 3 (607554)
  • Long QT syndrome-1 (192500)
  • Idiopathic Ventricular Fibrillation
  • Short QT-interval syndrome
  • Long QT syndrome
  • Hypertrophic cardiomyopathy
  • Jervell and Lange-Nielsen syndrome (220400)
  • Long QT syndrome-1
  • Short QT syndrome
  • Short QT syndrome 2 609621
  • Short QT syndrome 2 (609621)
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: KCNQ1 was added gene: KCNQ1 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KCNQ1 were set to 19716085; 16301704; 16226079 Phenotypes for gene: KCNQ1 were set to Atrial fibrillation, familial, 3 (607554); Long QT syndrome-1 (192500); Idiopathic Ventricular Fibrillation; Short QT-interval syndrome; Long QT syndrome; Hypertrophic cardiomyopathy; Jervell and Lange-Nielsen syndrome (220400); Long QT syndrome-1; Short QT syndrome; Short QT syndrome 2 609621; Short QT syndrome 2 (609621)