KCNQ1

potassium voltage-gated channel subfamily Q member 1
OMIM: 607542
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 220400
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 (220400), Atrial fibrillation, familial, 3 (607554), Long QT syndrome-1 (192500), Long QT syndrome-1, Short QT syndrome 2 (609621)
R-numbers: R67
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#220400: Jervell and Lange-Nielsen syndrome [Congenital sensorineural hearing loss, Prolonged QT interval on EKG, SyncopeTorsades de pointes, Sudden cardiac death, Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1), Caused by mutation in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1)]
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R130
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Short QT syndrome 2, OMIM:609621, Long QT syndrome-1, OMIM:192500, Atrial fibrillation, familial, 3, OMIM:607554