Bilateral congenital or childhood onset cataracts
Gene: PXDN

PXDN (peroxidasin)
EnsemblGeneIds (GRCh38): ENSG00000130508
EnsemblGeneIds (GRCh37): ENSG00000130508
OMIM: 605158, Gene2Phenotype
PXDN is in 4 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
corneal opacification associated with other ocular anomalies (COPA)

Publications

Khan et al (2011) Invest. Ophthal. Vis. Sci. 52: 4294-4299
Choi et al. (2015) Europ. J. Hum. Genet. 23: 337-341

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Jun 2016, 8:28 a.m.

Panel version: 0.383

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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

Created: 29 Apr 2016, 1:49 p.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN

Phenotypes

Congenital cataract, corneal opacity, developmental glaucoma
corneal opacification associated with other ocular anomalies (COPA)

OMIM

605158

Clinvar variants

Variants in PXDN

Penetrance

Complete

Publications

Khan et al (2011) Invest. Ophthal. Vis. Sci. 52: 4294-4299
Choi et al. (2015) Europ. J. Hum. Genet. 23: 337-341

Panels with this gene