KCNE1

potassium voltage-gated channel subfamily E regulatory subunit 1
OMIM: 176261
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R127
Signed-off version 3.1
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
R-numbers: R67
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jervell and Lange-Nielsen syndrome 2, OMIM:612347