Non-CF bronchiectasis

Gene: SCNN1A

Green List (high evidence)

SCNN1A (sodium channel epithelial 1 alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000111319
EnsemblGeneIds (GRCh37): ENSG00000111319
OMIM: 600228, Gene2Phenotype
SCNN1A is in 10 panels

1 review

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350
  • Bronchiectasis with or without elevated sweat chloride 2, 613021
  • Bronchiectasis
OMIM
600228
Clinvar variants
Variants in SCNN1A
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: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SCNN1A were set to Pseudohypoaldosteronism, type I, 264350;Bronchiectasis with or without elevated sweat chloride 2, 613021; Bronchiectasis

10 May 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SCNN1A were set to Pseudohypoaldosteronism, type I, 264350Bronchiectasis with or without elevated sweat chloride 2, 613021; Bronchiectasis

10 May 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCNN1A were set to

8 Jul 2015, Gel status: 3

Upload gene information

Ellen McDonagh (Genomics England Curator)

SCNN1A was added to Non-CF bronchiectasispanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SCNN1A was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SCNN1A was added to Non-CF bronchiectasispanel. Sources: Radboud University Medical Center, Nijmegen