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  2. Interstitial Lung Disease
  3. SCNN1B
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Interstitial Lung Disease

Gene: SCNN1B

Amber List (moderate evidence)
SCNN1B (sodium channel epithelial 1 beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000168447
EnsemblGeneIds (GRCh37): ENSG00000168447
OMIM: 600760, Gene2Phenotype
SCNN1B is in 11 panels

3 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

I don't know

PMID: 26772908. As reviewed cases small and often in association with single CFTR variant making it difficult to reach definitive conclusion about role in CF-like disease. ?digenic association, agree maybe modifier?
Created: 6 Nov 2021, 6:59 a.m. | Last Modified: 6 Nov 2021, 6:59 a.m.
Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bronchiectasis

Created: 6 Nov 2021, 6:59 a.m.
Last Modified: 6 Nov 2021, 6:59 a.m.
Panel version: 0.183

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Many of the reports are in CF cohorts ?modifier.
Created: 2 Jun 2021, 9:42 p.m. | Last Modified: 2 Jun 2021, 9:42 p.m.
Panel Version: 1.8
Created: 2 Jun 2021, 9:42 p.m.
Last Modified: 2 Jun 2021, 9:42 p.m.
Panel version: Imported from Ciliary Dyskinesia panel version 1.8

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Phenotypic overlap with PCD
Encodes for the beta subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244)

PMID: 16207733: 2 patients reported
PMID: 18507830: 2 patients with bronchiectasis
Sources: Expert Review
Created: 10 May 2020, 11:32 p.m.

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

Phenotypes
Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)

Publications

Created: 10 May 2020, 11:32 p.m.

Panel version: Imported from Ciliary Dyskinesia panel version 0.68

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)
OMIM
600760
Clinvar variants
Variants in SCNN1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scnn1b has been classified as Amber List (Moderate Evidence).

8 Nov 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCNN1B were changed from to Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)

8 Nov 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCNN1B were set to

8 Nov 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SCNN1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scnn1b has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCNN1B was added gene: SCNN1B was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCNN1B was set to Unknown