Renal tubulopathies
Gene: SCNN1A

SCNN1A (sodium channel epithelial 1 alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000111319
EnsemblGeneIds (GRCh37): ENSG00000111319
OMIM: 600228, Gene2Phenotype
SCNN1A is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changing rating from red to green as > 3 cases reported.
Created: 5 Sep 2019, 8:36 p.m. | Last Modified: 5 Sep 2019, 8:36 p.m.

Panel Version: 1.149

Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.

8 cases reported in OMIM (PMIDs 8589714 and 10586178).
Created: 2 Sep 2019, 11:21 p.m. | Last Modified: 2 Sep 2019, 11:21 p.m.

Panel Version: 1.82

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: SCNN1A; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided; Other Comments: AD inheritance for ?Liddle 3 (1 family only) and bronciectasis
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudohypoaldosteronism, type I, MIM 264350; ? Liddle syndrom 3, MIM 618126; Bronchiectasis with or without elevated sweat chloride 2 MIM 613021

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

Created: 3 Feb 2019, 11:32 a.m.

Panel version: 1.82

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Pseudohypoaldosteronism, type I, 264350
?Liddle syndrom 3, 618126
Bronchiectasis with or without elevated sweat chloride 2 613021

OMIM

600228

Clinvar variants

Variants in SCNN1A

Penetrance

None

Publications

Panels with this gene