Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: PXDN

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported, mouse model. Microphthalmia is a feature.
Created: 27 Dec 2020, 11:24 p.m. | Last Modified: 27 Dec 2020, 11:24 p.m.
Panel Version: 0.124

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
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

2 Feb 2022, 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).

2 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PXDN were changed from CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400

2 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PXDN were set to

2 Feb 2022, 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).

24 Oct 2021, Gel status: 2

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 Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA