Extreme early-onset hypertension
Gene: SCNN1G

SCNN1G (sodium channel epithelial 1 gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000166828
EnsemblGeneIds (GRCh37): ENSG00000166828
OMIM: 600761, Gene2Phenotype
SCNN1G is in 10 panels

3 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 3/4 sources. One reviewer recommends Green. Only two variants associated with Liddle syndrome, (PMID 177200) reported in the literature.
Created: 8 Jun 2016, 7:32 a.m.

Comment on mode of inheritance: Liddle syndrome, 177200 is AD
Created: 7 Jun 2016, 2:33 p.m.

Comment on phenotypes: Liddle syndrome, 177200 is relevant to this panel
Created: 7 Jun 2016, 2:32 p.m.

Created: 7 Jun 2016, 2:32 p.m.

Panel version: 0.65

Ellen McDonagh (Genomics England Curator)

"SCNN1GÊ" was submitted by the expert, the likely HGNC-approved term is SCNN1G.
Created: 15 Jul 2015, 11:10 a.m.

Created: 15 Jul 2015, 11:10 a.m.

Panel version: 0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
UKGTN
Expert

Phenotypes

Bronchiectasis with or without elevated sweat chloride 3, 613071
Liddle syndrome, 177200
Pseudohypoaldosteronism, type I, 264350

OMIM

600761

Clinvar variants

Variants in SCNN1G

Penetrance

Complete

Publications

Panels with this gene