Skeletal dysplasia
Gene: SCNN1B

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 except for association with bronchiectasis where evidence for association is more limited.
Created: 2 Jun 2021, 9:42 p.m. | Last Modified: 2 Jun 2021, 9:42 p.m.

Panel Version: 0.7770

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Liddle syndrome 1, MIM# 177200; Pseudohypoaldosteronism, type I, MIM# 264350; Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)

Created: 2 Jun 2021, 9:42 p.m.
Last Modified: 2 Jun 2021, 9:42 p.m.
Panel version: Imported from Mendeliome panel version 0.7770

Details

Sources

Expert Review Green
Emory Genetics Laboratory
Victorian Clinical Genetics Services

OMIM

600760

Clinvar variants

Variants in SCNN1B

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

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 Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: SCNN1B was set to

Skeletal dysplasia Gene: SCNN1B