Bilateral congenital or childhood onset cataracts
Gene: BFSP1
Mutation reported by Wang et al (2013) also seen in our Manchester lab in patient with cataracts. Not on Exac. Located in tail region of the protein which is important for beaded filament formation, not on Exac. Knocokout mouse model for this protein has been. Mutations in related BFSP2 reported in patients with cataracts. Evidence together satisfies criteria C, D and E.Created: 25 May 2016, 8:10 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 33, 611391
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: As indicated by review.Created: 25 May 2016, 9:42 a.m.
Comment on list classification: Promoted to green due to expert review.Created: 25 May 2016, 9:42 a.m.
Is on the Manchester congenital cataracts gene panel. In OMIM, a single report of a large consanguineous Indian family.Created: 25 Apr 2016, 8:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for BFSP1 were set to Wang et al (2013) Mol Vis 19:2590-2595; Ramachandran et al (2007) Hum Genet 121(3-4):475-82; Alizadeh et al (2003) Invest Ophthalmol Vis Sci 43:3722-7
Mode of inheritance for BFSP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
BFSP1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
BFSP1 was added to Cataractspanel. Sources: UKGTN