potassium voltage-gated channel subfamily E regulatory subunit 1
OMIM: 176261
PanelMode of inheritanceDetails
2 panels
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Jervell and Lange-Nielsen syndrome 2, 612347, JLNS, Long QT syndrome-5, 613695
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden cardiac death
R-numbers: R127
Signed-off version 2.20
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT syndrome 5 (613695), Jervell and Lange-Nielsen syndrome 2 (612347)