Retinal disorders
Gene: PRPH2

PRPH2 (peripherin 2)
EnsemblGeneIds (GRCh38): ENSG00000112619
EnsemblGeneIds (GRCh37): ENSG00000112619
OMIM: 179605, Gene2Phenotype
PRPH2 is in 3 panels

4 reviews

Eleanor Williams (Genomics England Curator)

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

Created: 6 Oct 2020, 2:21 p.m.
Last Modified: 6 Oct 2020, 2:21 p.m.
Panel version: 2.17

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

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
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

Created: 17 Jan 2017, 4:30 p.m.

Panel version: 1.14

Ellen McDonagh (Genomics England Curator)

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

Created: 26 Apr 2016, noon

Panel version: 0.161

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Eligibility statement prior genetic testing
Expert Review Green

OMIM

179605

Clinvar variants

Variants in PRPH2

Penetrance

Complete

Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PRPH2. Rating Changed from Green List (high evidence) to Green List (high evidence)

26 Apr 2016, Gel status: 4