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Cataracts

Gene: PXDN

Green List (high evidence)

PXDN (peroxidasin)
EnsemblGeneIds (GRCh38): ENSG00000130508
EnsemblGeneIds (GRCh37): ENSG00000130508
OMIM: 605158, Gene2Phenotype
PXDN is in 5 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

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

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

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PXDN were set to Congenital cataract, corneal opacity, developmental glaucoma;corneal opacification associated with other ocular anomalies (COPA)

14 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PXDN were set to Congenital cataract, corneal opacity, developmental glaucoma

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PXDN was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PXDN was added to Cataractspanel. Sources: UKGTN