Bilateral congenital or childhood onset cataracts

Gene: FKRP

Green List (high evidence)

Eye phenotype is very variable. Cataracts reproted in 2 patients with FKRP mutations. Cataracts have been described in patients with dystroglycanopathies caused by mutations in other genes.

Created: 14 Jun 2016, 8:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• Chiara Manzini et al (2008) Hum Mutat 29:E231-E241
• van Reeuwijk et al (2010) Clin genet 78:275-281

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

Green List (high evidence)

Comment on list classification: We discussed and agreed internally that all genes within the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) phenotypic series available on OMIM should be demoted to red, as it is unlikely that these conditions would present with cataracts as a main feature.

Created: 27 Jun 2016, 4:27 p.m.

Is on the Manchester congenital cataracts gene panel, and associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A5 in OMIM and G2P (includes cataract phenotype).

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal