Interstitial Lung Disease

Gene: SCNN1A

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

Created: 6 Nov 2021, 6:56 a.m. | Last Modified: 6 Nov 2021, 6:56 a.m.

Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bronchiectasis

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

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

• 22207244
• 19017867
• 19462466