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Retinal disorders

Gene: RPGR

Green List (high evidence)
RPGR (retinitis pigmentosa GTPase regulator)
EnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 11 panels

3 reviews

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
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Cone-rod dystrophy, X-linked, 1; Macular degeneration, X-linked atrophic; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness

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)

Added the tag ‘gene-therapy-trial’ as this gene-disease is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:53 a.m.
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.
Created: 2 Jun 2016, 8:05 a.m.

Panel version: 1.78

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone - rod dystrophy - 1
  • Macular degeneration, X - linked atrophic
  • Retinitis pigmentosa 3
  • Retinitis pigmentosa, X -linked, and sinorespiratory infections, with or without deafness
  • Retinitis pigmentosa 3, 300029Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455Macular degeneration, X-linked atrophic, 300834Cone-rod dystrophy, X-linked, 1, 304020
  • Retinitis pigmentosa 3, 300029
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455
  • Macular degeneration, X-linked atrophic, 300834
  • Cone-rod dystrophy, X-linked, 1, 304020
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • RPGR-related X-linked Retinitis Pigmentosa
  • Eye Disorders
  • Retinitis pigmentosa
Tags
gene-therapy-trial
OMIM
312610
Clinvar variants
Variants in RPGR
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 RPGR. Rating Changed from Green List (high evidence) to Green List (high evidence)

23 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RPGR was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPGR was created by ellenmcdonagh