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  2. Ciliary Dyskinesia
  3. SCNN1B
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Ciliary Dyskinesia

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

2 reviews

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: 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: 0.68

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
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

2 Jun 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).

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scnn1b has been classified as Green List (High Evidence).

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scnn1b has been classified as Green List (High Evidence).

10 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: SCNN1B was added gene: SCNN1B was added to Ciliary Dyskinesia. Sources: Expert Review Mode of inheritance for gene: SCNN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCNN1B were set to 22207244; 16207733; 18507830 Phenotypes for gene: SCNN1B were set to Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400) Review for gene: SCNN1B was set to GREEN