Bilateral congenital or childhood onset cataracts

Gene: FLNB

Red List (low evidence)

Lens opacities and retinal abnormalities detecred in 2 patients with sponylocarpotarsal synotosis, variable within the families.

Created: 25 May 2016, 8:10 a.m.

Publications

• Steiner et al (2000) Am J Med Genet 91:131-134

I don't know

Comment on list classification: Added to the red list due to expert review.

Created: 31 May 2016, 9:34 a.m.

Not on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME which includes a cataract phenotype and associated on OMIM with several variant reports.

Created: 29 Apr 2016, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal