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  2. Anophthalmia_Microphthalmia_Coloboma
  3. PXDN
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Anophthalmia_Microphthalmia_Coloboma

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

Created: 27 Dec 2020, 11:24 p.m.
Last Modified: 27 Dec 2020, 11:24 p.m.
Panel version: 0.124

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

27 Dec 2020, 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).

27 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400

27 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PXDN were set to

27 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PXDN was added gene: PXDN was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PXDN was set to Unknown