CLCNKB

chloride voltage-gated channel Kb
OMIM: 602023
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
BARTTER SYNDROME TYPE 4B 613090
R-numbers: R256
Signed-off version 4.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 3, 607364, Type 3 Bartter syndrome, Bartter syndrome, type 4b, digenic, 613090, BARTTER SYNDROME TYPE 4B
R-numbers: R198
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 3, OMIM:607364, Bartter syndrome, type 4b, digenic, OMIM:613090