Bilateral congenital or childhood onset cataracts

Gene: BFSP1

Green List (high evidence)

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

• 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

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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