RPGR

retinitis pigmentosa GTPase regulator
OMIM: 312610
PanelMode of inheritanceDetails
2 panels
R-numbers: R189
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ciliopathies, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, OMIM:300455, primary ciliary dyskinesia-retinitis pigmentosa syndrome, MONDO:0010330
R-numbers: R32
Signed-off version 3.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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