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Cardiac arrhythmias - previous panel

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

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Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome-5
  • Long QT syndrome
OMIM
176261
Clinvar variants
Variants in KCNE1
Penetrance
None
Publications
  • doi:10. 1007/ s12265-016-9673-5
  • 16818210
Panels with this gene

History Filter Activity

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against the component panels, and ready to be promoted to version 1.

17 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome for gene: KCNE1

17 Dec 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KCNE1 was added gene: KCNE1 was added to Cardiac arrythmias. 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