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  3. SCNN1A
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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

Created: 7 Jul 2021, 9:50 p.m.

Panel version: Imported from Renal Tubulopathies_KidGen panel version 0.41

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

Created: 12 Feb 2020, 3:53 a.m.
Last Modified: 12 Feb 2020, 3:53 a.m.
Panel version: Imported from Hypertension and Aldosterone disorders panel version 0.8

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