Extreme early-onset hypertension

Gene: SCNN1G

Green List (high evidence)

SCNN1G (sodium channel epithelial 1 gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000166828
EnsemblGeneIds (GRCh37): ENSG00000166828
OMIM: 600761, Gene2Phenotype
SCNN1G is in 9 panels

3 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

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.

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.

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

History Filter Activity

3 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SCNN1G were set to 7550319; 26537344

7 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SCNN1G were set to 7550319

7 Jun 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SCNN1G was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SCNN1G were set to Bronchiectasis with or without elevated sweat chloride 3, 613071; Liddle syndrome, 177200; Pseudohypoaldosteronism, type I, 264350

7 Jun 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

SCNN1G was added to Extreme early-onset hypertensionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

SCNN1G was added to Extreme early-onset hypertensionpanel. Sources: Expert