Genomics England
GMS Panels
Panels
Genes and Entities

CLCNKB

chloride voltage-gated channel Kb
OMIM: 602023
PanelMode of inheritanceDetails
2 panels
Green
in Nephrocalcinosis or nephrolithiasis
R-numbers: R256
Signed-off version 2.2
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
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria, Bartter syndrome, type 3, 607394