Hypertension and Aldosterone disorders
Gene: SCNN1AEnsemblGeneIds (GRCh38): ENSG00000111319
EnsemblGeneIds (GRCh37): ENSG00000111319
OMIM: 600228, Gene2Phenotype
SCNN1A is in 11 panels
1 review
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
- Phenotypes
-
- ?Liddle syndrome 3 618126 AD
- Bronchiectasis with or without elevated sweat chloride 2 613021 AD
- Pseudohypoaldosteronism, type I 264350 AR.
- OMIM
- 600228
- Clinvar variants
- Variants in SCNN1A
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scnn1a has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SCNN1A were changed from to ?Liddle syndrome 3 618126 AD; Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SCNN1A were set to
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: SCNN1A was changed from to Other
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SCNN1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SCNN1A was added gene: SCNN1A was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0 Mode of inheritance for gene: SCNN1A was set to Unknown