Bilateral congenital or childhood onset cataracts
Gene: PXDN
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
corneal opacification associated with other ocular anomalies (COPA)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. Is a probable DD gene for Congenital cataract, corneal opacity, developmental glaucoma. Is associated with Corneal opacification and other ocular anomalies in OMIM.Created: 29 Apr 2016, 1:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital cataract, corneal opacity, developmental glaucoma
This gene has been classified as Green List (High Evidence).
Phenotypes for PXDN were set to Congenital cataract, corneal opacity, developmental glaucoma;corneal opacification associated with other ocular anomalies (COPA)
Publications for PXDN were set to Khan et al (2011) Invest. Ophthal. Vis. Sci. 52: 4294-4299; Choi et al. (2015) Europ. J. Hum. Genet. 23: 337-341
Phenotypes for PXDN were set to Congenital cataract, corneal opacity, developmental glaucoma
Mode of inheritance for PXDN was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PXDN was added to Cataractspanel. Sources: UKGTN