Laterality disorders and isomerismGene: BRWD1
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. As only 1 case has situs inversus this gene has been added to this panel as a Red gene.
After discussion with the Genomics England Clinical Team it was decided that this gene would be better suited for the Respiratory ciliopathies including non-CF bronchiectasis (Version 1.45). This gene has been added as an Amber gene with a recommendation for Green status on that panel.
Created: 4 May 2021, 10:22 a.m. | Last Modified: 4 May 2021, 10:22 a.m.
Panel Version: 1.45
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).
Created: 7 Feb 2021, 3:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Primary ciliary dyskinesia, asthenoteratozoospermia
Gene: brwd1 has been classified as Red List (Low Evidence).
gene: BRWD1 was added gene: BRWD1 was added to Laterality disorders and isomerism. Sources: Literature 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