SCNN1B

sodium channel epithelial 1 beta subunit
OMIM: 600760
PanelMode of inheritanceDetails
2 panels
R-numbers: R198
Signed-off version 2.23
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pseudohypoaldosteronism, type I, 264350
R-numbers: R189
Signed-off version 1.3
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