RPGR

retinitis pigmentosa GTPase regulator
OMIM: 312610, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green RPGR in Ciliary Dyskinesia Level 2: Respiratory disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455
Green RPGR in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 3 (MIM#300029)
Red RPGR in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 3 (MIM#300029)
Green RPGR in Mendeliome Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 3 (MIM#300029)
Red RPGR in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	Not set	Sources Emory Genetics Laboratory
Green RPGR in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	0 reviews	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
Green RPGR in Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Royal Melbourne Hospital Expert Review Green 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
Green RPGR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Macular degeneration, X-linked atrophic, 300834 (3)
Green RPGR in Cone-rod Dystrophy Level 2: Ophthalmological disorders Version 1.0	0 reviews	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
Green RPGR in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Retinitis pigmentosa
Amber RPGR in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Mackenzie's Mission Phenotypes Retinitis pigmentosa 3 (MIM#300029)
Red RPGR in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455