Genomics England
GMS Panels
Panels
Genes and Entities

SCNN1B

sodium channel epithelial 1 beta subunit
OMIM: 600760
PanelMode of inheritanceDetails
3 panels
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pseudohypoaldosteronism, type I, 264350
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 3.10
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ciliopathies, Non-Classic Cystic Fibrosis-Like Syndrome, Pseudohypoaldosteronism, type I, 264350, Liddle syndrome, 177200, Bronchiectasis with or without elevated sweat chloride 1, 211400, Bronchiectasis
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pseudohypoaldosteronism, type I, 264350