Renal Tubulopathies and related disorders

Gene: SCNN1A

Green List (high evidence)

SCNN1A (sodium channel epithelial 1 alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000111319
EnsemblGeneIds (GRCh37): ENSG00000111319
OMIM: 600228, Gene2Phenotype
SCNN1A is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with two affected individuals and a missense variant, some functional data to support pathogenicity.

Note bi-allelic variants in this gene are associated with Pseudohypoaldosteronism, type I.
Sources: Expert Review
Created: 7 Jul 2021, 9:50 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Liddle syndrome 3, MIM# 618126

Publications

Michelle Torres (Victorian Clinical Genetics Services)

LoF biallelic variants (missense and PTV) have been reported to cause pseudohypoaldosteronism (PMID: 31301676). However, a missense shown to result in GoF has been reported in a patient with Liddle syndrome 3 (PMID: 28710092).
Created: 12 Feb 2020, 3:53 a.m. | Last Modified: 12 Feb 2020, 3:53 a.m.
Panel Version: 0.8

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Liddle syndrome 3 618126 AD; Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Red
  • Expert Review
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 2 613021 AD
  • Pseudohypoaldosteronism, type I 264350 AR.
  • ?Liddle syndrome 3 618126 AD
OMIM
600228
Clinvar variants
Variants in SCNN1A
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: SCNN1A was added gene: SCNN1A was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCNN1A were set to 28710092; 31301676 Phenotypes for gene: SCNN1A were set to Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.; ?Liddle syndrome 3 618126 AD