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  2. Vitreoretinopathy
  3. P3H2
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Vitreoretinopathy

Gene: P3H2

Green List (high evidence)
P3H2 (prolyl 3-hydroxylase 2)
EnsemblGeneIds (GRCh38): ENSG00000090530
EnsemblGeneIds (GRCh37): ENSG00000090530
OMIM: 610341, Gene2Phenotype
P3H2 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 unrelated consanguineous families reported with vitreoretinal degeneration as a feature of the condition.
Sources: Expert list
Created: 25 May 2020, 1:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopia, high, with cataract and vitreoretinal degeneration MIM#614292

Publications

Created: 25 May 2020, 1:48 a.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration MIM#614292
OMIM
610341
Clinvar variants
Variants in P3H2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: p3h2 has been classified as Green List (High Evidence).

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: p3h2 has been classified as Green List (High Evidence).

25 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: P3H2 was added gene: P3H2 was added to Vitreoretinopathy. Sources: Expert list Mode of inheritance for gene: P3H2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P3H2 were set to 21885030; 24172257; 25469533 Phenotypes for gene: P3H2 were set to Myopia, high, with cataract and vitreoretinal degeneration MIM#614292 Review for gene: P3H2 was set to GREEN