RPGR

retinitis pigmentosa GTPase regulator
OMIM: 312610, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red RPGR in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green RPGR in Gene therapy clinical trials Level 3: Clinical trials Level 2: Actionable information Version 0.9	review	Not set	Sources Expert Review Green ClinicalTrials.gov Phenotypes X-Linked Retinitis Pigmentosa
Red RPGR in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	Not set	Sources Emory Genetics Laboratory
Green RPGR in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.42	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Emory Genetics Laboratory Phenotypes ciliopathies
Green RPGR in Respiratory ciliopathies including non-CF bronchiectasis Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Ciliopathies Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, OMIM:300455 primary ciliary dyskinesia-retinitis pigmentosa syndrome, MONDO:0010330
Red RPGR in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory
Red RPGR in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes 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
Red RPGR in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red
Green RPGR in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	review	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
Red RPGR in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	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 Red Phenotypes Macular degeneration, X-linked atrophic, 300834 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 Cone-rod dystrophy, X-linked, 1, 304020 Retinitis pigmentosa 3, 300029 Eye Disorders
Red RPGR in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.170	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Emory Genetics Laboratory Expert list
Red RPGR in Ophthalmological ciliopathies Version 3.5 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Expert list Emory Genetics Laboratory
Green RPGR in Severe Paediatric Disorders Version 1.184	review	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