Non-CF bronchiectasis

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 11 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber due to expert review and OMIM review.
Created: 10 May 2016, 8:03 a.m.

Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)

Green List (high evidence)

Sodium channelopathy associated gene- highly important to screen for in those with ? CF but negative CFTR analysis yet high Na+ in sweat test
Created: 17 Oct 2015, 7:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Liddle syndrome, 177200
  • Pseudohypoaldosteronism, type I, 264350
  • Bronchiectasis with or without elevated sweat chloride 3, 613071
  • Bronchiectasis
OMIM
600761
Clinvar variants
Variants in SCNN1G
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

10 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

10 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCNN1G were set to

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

10 May 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SCNN1G was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SCNN1G was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SCNN1G was added to Non-CF bronchiectasispanel. Sources: Radboud University Medical Center, Nijmegen