Genomics England
GMS Panels
Panels
Genes and Entities

PXDN

peroxidasin
OMIM: 605158
PanelMode of inheritanceDetails
2 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital cataract, corneal opacity, developmental glaucoma, corneal opacification associated with other ocular anomalies (COPA)
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Corneal opacification and other ocular anomalies, 269400