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Molecular autopsy

Gene: KCNE1

Green List (high evidence)
KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000180509
EnsemblGeneIds (GRCh37): ENSG00000180509
OMIM: 176261, Gene2Phenotype
KCNE1 is in 8 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. 49 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: moderate association with Jervell and Lange-Nielsen syndrome 2 (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
Jervell and Lange-Nielsen syndrome 2 (612347); Long QT syndrome-5 (613695)

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
  • Jervell and Lange-Nielsen syndrome 2 (612347)
  • Catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome
  • Long QT syndrome-5
  • Long QT syndrome-5 (613695)
OMIM
176261
Clinvar variants
Variants in KCNE1
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 KCNE1.

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 KCNE1. Added phenotypes Long QT syndrome-5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) for gene: KCNE1 Publications for gene KCNE1 were changed from doi:10. 1007/ s12265-016-9673-5; 16818210 to 16301704; 19716085; 26168993

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: KCNE1 was added gene: KCNE1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KCNE1 were set to doi:10. 1007/ s12265-016-9673-5; 16818210 Phenotypes for gene: KCNE1 were set to Long QT syndrome-5; Catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome