Renal Tubulopathies and related disorders
Gene: SCNN1B
Variants resulting in constitutive activation of epithelial sodium channel activity have been demonstrated in the beta and gamma subunits as the cause of the autosomal dominant form of hypertension, Liddle syndrome, which is characterized by volume expansion, hypokalemia, and alkalosis.
Variants causing loss of epithelial sodium channel activity cause the converse phenotype of volume depletion, hyperkalaemia and acidosis characteristic of patients with pseudohypoaldosteronism type I.
Well established gene-disease associations.Created: 31 May 2021, 10:45 a.m. | Last Modified: 31 May 2021, 10:45 a.m.
Panel Version: 0.42
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Liddle syndrome 1, MIM# 177200; Pseudohypoaldosteronism, type I, MIM# 264350
gene: SCNN1B was added gene: SCNN1B was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: SCNN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCNN1B were set to 8589714 Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, MIM# 264350; Liddle syndrome 1, MIM# 177200