Retinal disordersGene: PRPH2
Note - some evidence that the phenotype is affected by variants in ROM1 - see PMID: 8595413 and 32716032
Created: 6 Oct 2020, 2:21 p.m. | Last Modified: 6 Oct 2020, 2:21 p.m.
Panel Version: 2.17
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Choriodal dystrophy, central areolar 2; Foveomacular dystrophy, adult-onset, with choroidal neovascularization; Macular dystrophy; Macular dystrophy, patterned; Macular dystrophy, vitelliform; Retinitis pigmentosa 7; Retinitis pigmentosa, digenic; Retinitis punctata albescens
Variants in this GENE are reported as part of current diagnostic practice
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
Comment on mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown suggested by Andrew Webster (Moorfields Eye Hospital) for the Inherited macular dystrophy gene panel.
Created: 26 Apr 2016, noon
Source NHS GMS was added to PRPH2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for PRPH2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
PRPH2 was added to Posterior segment abnormalitiespanel. Sources: Eligibility statement prior genetic testing
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PRPH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
PRPH2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
PRPH2 was created by ellenmcdonagh