Genomics England
GMS Panels
Panels
Genes and Entities

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 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARTTER SYNDROME TYPE 4B 613090
Green
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.16
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 3, OMIM:607364, Bartter disease type 3, MONDO:0011822, Bartter syndrome, type 4b, digenic, OMIM:613090, Bartter disease type 4B, MONDO:0000909
Green
in Renal tubulopathies
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 4.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 3, OMIM:607364, Bartter disease type 3, MONDO:0011822, Bartter syndrome, type 4b, digenic, OMIM:613090, Bartter disease type 4B, MONDO:0000909