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Molecular autopsy

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: 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: 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
Phenotypes
  • Short QT syndrome 2 609621
  • Long QT syndrome-1 (192500)
  • Short QT syndrome
  • Hypertrophic cardiomyopathy
  • Atrial fibrillation, familial, 3 (607554)
  • Long QT syndrome-1
  • Short QT syndrome 2 (609621)
  • Idiopathic Ventricular Fibrillation
  • Short QT-interval syndrome
  • Jervell and Lange-Nielsen syndrome (220400)
  • Long QT syndrome
OMIM
607542
Clinvar variants
Variants in KCNQ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to KCNQ1.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to KCNQ1. Added phenotypes Atrial fibrillation, familial, 3 (607554); Jervell and Lange-Nielsen syndrome (220400); Long QT syndrome-1 (192500); Short QT syndrome 2 (609621) for gene: KCNQ1 Publications for gene KCNQ1 were changed from 25974115; 15159330; 26168993; 16109388; 29697308; 26346102 to 19716085; 16226079; 16301704

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Short QT syndrome; Hypertrophic cardiomyopathy; Long QT syndrome for gene: KCNQ1

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: KCNQ1 was added gene: KCNQ1 was added to Molecular autopsy. Sources: Expert Review Green 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 25974115; 15159330; 26168993; 16109388; 29697308; 26346102 Phenotypes for gene: KCNQ1 were set to Short QT syndrome 2 609621; Short QT-interval syndrome; Idiopathic Ventricular Fibrillation; Long QT syndrome-1