RPGRIP1

RPGR interacting protein 1
OMIM: 605446, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red RPGRIP1 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
Red RPGRIP1 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	Not set	Sources Emory Genetics Laboratory
Red RPGRIP1 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.42	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Red RPGRIP1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory
Red RPGRIP1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes LEBER CONGENITAL AMAUROSIS 6 CONE-ROD DYSTROPHY 13
Green RPGRIP1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEBER CONGENITAL AMAUROSIS 6 613826 CONE-ROD DYSTROPHY 13 608194
Red RPGRIP1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leber congenital amaurosis 6, 613826 Cone-rod dystrophy 13, 608194
Green RPGRIP1 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Cone - rod dystrophy 13 Leber congenital amaurosis 6 Macular Dystrophy/Degeneration/Stargardt Disease Leber Congenital Amaurosis Leber congenital amaurosis 6, 613826 Eye Disorders Retinitis pigmentosa Cone-Rod Dystrophy, Recessive Leber congenital amaurosis 6, 613826Cone-rod dystrophy 13, 608194
Red RPGRIP1 in Structural eye disease Version 3.79 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Cone-rod dystrophy 13, 608194 Leber congenital amaurosis 6, 613826 Eye Disorders
Red RPGRIP1 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.172	review	Not set	Sources Expert Review Red Orphanet Emory Genetics Laboratory Phenotypes Ciliopathies Meckel syndrome
Red RPGRIP1 in Ophthalmological ciliopathies Version 4.1 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	Not set	Sources Expert Review Red Orphanet Emory Genetics Laboratory Phenotypes Meckel syndrome Ciliopathies
Green RPGRIP1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Leber congenital amaurosis 6, 613826 Cone-rod dystrophy 13, 608194