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Prepair 1000+

Gene: PXDN

Green List (high evidence)
PXDN (peroxidasin)
EnsemblGeneIds (GRCh38): ENSG00000130508
EnsemblGeneIds (GRCh37): ENSG00000130508
OMIM: 605158, Gene2Phenotype
PXDN is in 7 panels

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

PXDN, HGNC:14966. From OMIM, Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface.
More than 5 unrelated families reported.
Created: 4 Feb 2025, 4:17 a.m. | Last Modified: 4 Feb 2025, 4:17 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anterior segment dysgenesis 7, with sclerocornea, MIM#269400

Publications

Created: 4 Feb 2025, 4:17 a.m.
Last Modified: 4 Feb 2025, 4:17 a.m.
Panel version: 1.1397

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Anterior segment dysgenesis 7, with sclerocornea, MIM#269400
OMIM
605158
Clinvar variants
Variants in PXDN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pxdn has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PXDN were changed from Corneal opacification and other ocular anomalies, 269400 (3) to Anterior segment dysgenesis 7, with sclerocornea, MIM#269400

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PXDN were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PXDN was added gene: PXDN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400 (3)