Respiratory ciliopathies including non-CF bronchiectasis
Gene: BRWD1
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.Created: 31 Jan 2023, 1:31 p.m. | Last Modified: 31 Jan 2023, 1:31 p.m.
Panel Version: 2.3
This gene is not associated with a phenotype in OMIM or Gene2Phenotype. This gene was added to the Laterality disorders and isomerism (Version 1.44) panel by Zornitza Stark with the following review:
"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
Zornitza Stark (Australian Genomics), 7 Feb 2021"
After discussion with the Genomics England Clinical Team it was decided that this gene was better suited to this panel.
Sources: LiteratureCreated: 4 May 2021, 10:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ciliary dyskinesia, asthenoteratozoospermia
Publications
Tag Q2_21_rating was removed from gene: BRWD1.
Gene: brwd1 has been classified as Amber List (Moderate Evidence).
gene: BRWD1 was added gene: BRWD1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Q2_21_rating tags were added to gene: BRWD1. Mode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRWD1 were set to 33389130 Phenotypes for gene: BRWD1 were set to Primary ciliary dyskinesia, asthenoteratozoospermia Review for gene: BRWD1 was set to GREEN