Retinal disordersGene: P3H2
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
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
Myopia, high, with cataract and vitreoretinal degeneration MIM#614292
Variants in this GENE are reported as part of current diagnostic practice
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
Tag for-review was removed from gene: P3H2. Tag deletions tag was added to gene: P3H2.
Source Expert Review Green was added to P3H2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: p3h2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: P3H2.
Mode of inheritance for gene: P3H2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Publications for gene: P3H2 were set to
Source NHS GMS was added to P3H2.
P3H2 was created by ellenmcdonagh
P3H2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red