1. Panels
  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. RPGR
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Retinitis pigmentosa_Autosomal Recessive/X-linked

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

0 reviews

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
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy, X-linked, 1, 304020
  • Macular degeneration, X-linked atrophic, 300834
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455
  • Retinitis pigmentosa 3, 300029
OMIM
312610
Clinvar variants
Variants in RPGR
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RPGR was added gene: RPGR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: RPGR were set to Cone-rod dystrophy, X-linked, 1, 304020; Macular degeneration, X-linked atrophic, 300834; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Retinitis pigmentosa 3, 300029