Non-CF bronchiectasis

Gene: SCNN1B

Green List (high evidence)

SCNN1B (sodium channel epithelial 1 beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000168447
EnsemblGeneIds (GRCh37): ENSG00000168447
OMIM: 600760, Gene2Phenotype
SCNN1B is in 10 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Compound heterozygous and heterozygous cases reported in OMIM.
Created: 3 May 2016, 3:11 p.m.
Comment on list classification: Currently a green gene, with a green expert review, and more than 3 cases reported in OMIM.
Created: 3 May 2016, 3:11 p.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, 7:02 p.m.

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Non-Classic Cystic Fibrosis-Like Syndrome
  • Liddle syndrome, 177200Pseudohypoaldosteronism, type I, 264350
  • Bronchiectasis with or without elevated sweat chloride 1, 211400
  • Bronchiectasis
OMIM
600760
Clinvar variants
Variants in SCNN1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCNN1B were set to PMID: 23837941

10 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SCNN1B were set to Non-Classic Cystic Fibrosis-Like Syndrome; Liddle syndrome, 177200Pseudohypoaldosteronism, type I, 264350;Bronchiectasis with or without elevated sweat chloride 1, 211400; Bronchiectasis

3 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).

3 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCNN1B were set to PMID: 23837941

3 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SCNN1B was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 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).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

SCNN1B was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SCNN1B was added to Non-CF bronchiectasispanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SCNN1B was added to Non-CF bronchiectasispanel. Sources: Illumina TruGenome Clinical Sequencing Services