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  3. SCNN1B
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Renal Tubulopathies and related disorders

Gene: SCNN1B

Green List (high evidence)
SCNN1B (sodium channel epithelial 1 beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000168447
EnsemblGeneIds (GRCh37): ENSG00000168447
OMIM: 600760, Gene2Phenotype
SCNN1B is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 31 May 2021, 10:45 a.m.
Last Modified: 31 May 2021, 10:45 a.m.
Panel version: Imported from Hypertension and Aldosterone disorders panel version 0.42

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type I, MIM# 264350
  • Liddle syndrome 1, MIM# 177200
OMIM
600760
Clinvar variants
Variants in SCNN1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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