Hypertension and Aldosterone disorders
Gene: SCNN1BEnsemblGeneIds (GRCh38): ENSG00000168447
EnsemblGeneIds (GRCh37): ENSG00000168447
OMIM: 600760, Gene2Phenotype
SCNN1B is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- KidGen_AldoHypertension v38.1.0
- Phenotypes
-
- Liddle syndrome 1, MIM# 177200
- Pseudohypoaldosteronism, type I, MIM# 264350
- OMIM
- 600760
- Clinvar variants
- Variants in SCNN1B
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scnn1b has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SCNN1B were changed from to Liddle syndrome 1, MIM# 177200; Pseudohypoaldosteronism, type I, MIM# 264350
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SCNN1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SCNN1B was added gene: SCNN1B was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0 Mode of inheritance for gene: SCNN1B was set to Unknown