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Severe Paediatric Disorders

Gene: RPGR

Green List (high evidence)

RPGR (retinitis pigmentosa GTPase regulator)
EnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: RPGR; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cone-rod dystrophy, X-linked, 1, 304020 (3) | Macular degeneration, X-linked atrophic, 300834 (3) | Retinitis pigmentosa 3, 300029 (3) | Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3); Mode of inheritance: X-linked | X-linked recessive | ND | ND
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinitis pigmentosa 3, 300029
  • Macular degeneration, X-linked atrophic, 300834
  • Cone-rod dystrophy, X-linked, 1, 304020
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455
OMIM
312610
Clinvar variants
Variants in RPGR
Penetrance
None
Publications
Panels with this gene