Bilateral congenital or childhood onset cataracts
Gene: FKRP
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
Variants in this GENE are reported as part of current diagnostic practice
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
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for FKRP were set to Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A5
Publications for FKRP were set to Chiara Manzini et al (2008) Hum Mutat 29:E231-E241; van Reeuwijk et al (2010) Clin genet 78:275-281
Mode of inheritance for FKRP was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FKRP was added to Cataractspanel. Sources: UKGTN