Ciliary Dyskinesia
Gene: SCNN1B
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
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 ReviewCreated: 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
Gene: scnn1b has been classified as Amber List (Moderate Evidence).
Gene: scnn1b has been classified as Green List (High Evidence).
Gene: scnn1b has been classified as Green List (High Evidence).
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