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Cataract
Gene: P3H2

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 3 unrelated consanguineous families reported with vitreoretinal degeneration as a feature of the condition.
Created: 29 Mar 2022, 11:10 p.m. | Last Modified: 29 Mar 2022, 11:10 p.m.

Panel Version: 0.319

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 29 Mar 2022, 11:10 p.m.
Last Modified: 29 Mar 2022, 11:10 p.m.
Panel version: 0.319

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

Clinvar variants

Variants in P3H2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Mar 2022, 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).

30 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: P3H2 were changed from to Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292

30 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: P3H2 were set to 21885030; 24172257; 25469533

30 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: P3H2 were set to

30 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: P3H2 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: P3H2 was added gene: P3H2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: P3H2 was set to Unknown