Ciliary Dyskinesia

Gene: BRWD1

Red List (low evidence)

Classified DISPUTED by ClinGen Motile Ciliopathy GCEP on 10/11/2022.

"Individuals with variants in BRWD1 and clinical features of PCD are reported in the literature. However, no functional data support the pathogenicity of the variants and their association with PCD. No valid experimental evidence remains to support this curation."

Created: 3 May 2024, 4:53 a.m. | Last Modified: 3 May 2024, 4:53 a.m.

Panel Version: 1.38

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
primary ciliary dyskinesia MONDO:0016575

Publications

• https://search.clinicalgenome.org/CCID:004289

Green List (high evidence)

Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or "PCD-like" symptoms of reccurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls).
Sources: Literature

Created: 1 Feb 2021, 9:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 51, MIM# 620438

Publications

• 33389130