Genomics England
GMS Panels
Panels
Genes and Entities

KCNE1

potassium voltage-gated channel subfamily E regulatory subunit 1
OMIM: 176261
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jervell and Lange-Nielsen syndrome 2, OMIM:612347, Long QT syndrome 5, OMIM:613695
Green
in Long QT syndrome
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R127
Signed-off version 3.7
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Jervell and Lange-Nielsen syndrome 2, OMIM:612347, Long QT syndrome 5, OMIM:613695
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jervell and Lange-Nielsen syndrome 2, OMIM:612347