Genomics England
GMS Panels
Panels
Genes and Entities

SCNN1A

sodium channel epithelial 1 alpha subunit
OMIM: 600228
PanelMode of inheritanceDetails
2 panels
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
Pseudohypoaldosteronism, type I, 264350, ?Liddle syndrom 3, 618126, Bronchiectasis with or without elevated sweat chloride 2 613021
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 3.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ciliopathies, Bronchiectasis, Pseudohypoaldosteronism, type I, 264350, Bronchiectasis with or without elevated sweat chloride 2, 613021