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  3. SCNN1G
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Renal Tubulopathies and related disorders

Gene: SCNN1G

Green List (high evidence)
SCNN1G (sodium channel epithelial 1 gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000166828
EnsemblGeneIds (GRCh37): ENSG00000166828
OMIM: 600761, Gene2Phenotype
SCNN1G is in 9 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, 10:48 a.m. | Last Modified: 31 May 2021, 10:48 a.m.
Panel Version: 0.44

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Liddle syndrome 2, MIM# 618114; Pseudohypoaldosteronism, type I, MIM# 264350

Created: 31 May 2021, 10:48 a.m.
Last Modified: 31 May 2021, 10:48 a.m.
Panel version: Imported from Hypertension and Aldosterone disorders panel version 0.44

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 2, MIM# 618114
OMIM
600761
Clinvar variants
Variants in SCNN1G
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: SCNN1G was added gene: SCNN1G was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: SCNN1G was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCNN1G were set to 22207244; 31655555; 28484659; 30801930 Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, MIM# 264350; Liddle syndrome 2, MIM# 618114