Bilateral congenital or childhood onset cataracts
Gene: FKTN
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, 4:26 p.m.
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A4 (includes cataract as a phenotype).Created: 29 Apr 2016, 11:28 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 FKTN were set to Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A4
Publications for FKTN were set to Saito et al (2010) Am J Med Genet 92:184-190; Cotarelo et al (2008) Clin Genet 73:139-145
Mode of inheritance for FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FKTN was added to Cataractspanel. Sources: UKGTN