RPGR

retinitis pigmentosa GTPase regulator
OMIM: 312610, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red RPGR in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Red RPGR in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	Not set	Sources Emory Genetics Laboratory
Green RPGR in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.56	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 Level 2: Respiratory Version 4.55 Latest signed off version: v4.0 (30 Apr 2025)	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 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory
Red RPGR in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) 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 Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	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 1.180	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 Level 2: Ophthalmology Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) 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