Ciliary Dyskinesia
Gene: SCNN1A

SCNN1A (sodium channel epithelial 1 alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000111319
EnsemblGeneIds (GRCh37): ENSG00000111319
OMIM: 600228, Gene2Phenotype
SCNN1A is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

6 individuals reported with bronchiectasis with or without elevated sweat chloride, some individuals had single CFTR variants, digenic inheritance postulated. Some of these variants are present in population databases at a relatively high frequency.
Created: 12 May 2021, 9:29 p.m. | Last Modified: 12 May 2021, 9:29 p.m.

Panel Version: 1.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021; MONDO:0013087

Publications

19462466

Created: 12 May 2021, 9:29 p.m.
Last Modified: 12 May 2021, 9:29 p.m.
Panel version: 1.5

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Phenotypic overlap with PCD
Encodes for the alpha subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244)
Sources: Expert Review
Created: 10 May 2020, 11:47 p.m.

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

Phenotypes
Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021)

Publications

Created: 10 May 2020, 11:47 p.m.

Panel version: 0.68

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber

Phenotypes

Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021)
MONDO:0013087

OMIM

600228

Clinvar variants

Variants in SCNN1A

Penetrance

None

Publications

Panels with this gene