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Retinal disorders

Gene: P3H2

Red List (low evidence)

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

1 review

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

Details

Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3
OMIM
610341
Clinvar variants
Variants in P3H2
Penetrance
Complete
Panels with this gene

History Filter Activity

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

P3H2 was created by ellenmcdonagh