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Retinal disorders

Gene: P3H2

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

3 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. The GMS specialist group should review whether the phenotype for this gene is relevant for inclusion in this panel.
Created: 7 Jan 2021, 4:14 p.m. | Last Modified: 7 Jan 2021, 4:14 p.m.
Panel Version: 2.100
Created: 7 Jan 2021, 4:14 p.m.
Last Modified: 7 Jan 2021, 4:14 p.m.
Panel version: 2.243

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Included in our panel due to vitreoretinal degeneration, at least 3 unrelated consanguineous families reported.
Created: 13 Oct 2020, 6:31 a.m. | Last Modified: 13 Oct 2020, 6:31 a.m.
Panel Version: 2.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Oct 2020, 6:31 a.m.
Last Modified: 13 Oct 2020, 6:31 a.m.
Panel version: 2.20

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

I don't know

high myopia, cataract, vitreoretinal degeneration
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration, OMIM:614292, MONDO:0013670
Tags
deletions
OMIM
610341
Clinvar variants
Variants in P3H2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: P3H2. Tag deletions tag was added to gene: P3H2.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to P3H2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: p3h2 has been classified as Amber List (Moderate Evidence).

7 Jan 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: P3H2.

7 Jan 2021, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: P3H2 was changed from to BIALLELIC, autosomal or pseudoautosomal

7 Jan 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: P3H2 were changed from Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3 to Myopia, high, with cataract and vitreoretinal degeneration, OMIM:614292, MONDO:0013670

7 Jan 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: P3H2 were set to

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to P3H2.

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

P3H2 was created by ellenmcdonagh

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

P3H2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red