Genomics England
GMS Panels
Panels
Genes and Entities

PXDN

peroxidasin
OMIM: 605158
PanelMode of inheritanceDetails
4 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital cataract, corneal opacity, developmental glaucoma, corneal opacification associated with other ocular anomalies (COPA)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Corneal opacification and other ocular anomalies, 269400