RPE65

RPE65, retinoid isomerohydrolase
OMIM: 180069, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red RPE65 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 RPE65 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 Leber Congenital Amaurosis Leber Hereditary Optic Neuropathy Eye Diseases Eye Diseases, Hereditary Retinal Diseases Retinal Degeneration
Red RPE65 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	Not set	Sources Emory Genetics Laboratory
Red RPE65 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.42	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Red RPE65 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 RPE65 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes LEBER CONGENITAL AMAUROSIS
Green RPE65 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEBER CONGENITAL AMAUROSIS 608553
Red RPE65 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leber congenital amaurosis 2, 204100 Retinitis pigmentosa 20, 613794
Green RPE65 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	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Leber congenital amaurosis 2, OMIM:204100 (AR) Retinitis pigmentosa 20, OMIM:613794 (AR) Retinitis pigmentosa 87 with choroidal involvement, OMIM:618697 (AD) Tags gene-therapy-trial Q4_23_MOI
Red RPE65 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Leber congenital amaurosis 2, 204100 Eye Disorders
Red RPE65 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.170	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Ciliopathies
Red RPE65 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	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Ciliopathies
Green RPE65 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Leber congenital amaurosis 2, 204100 Retinitis pigmentosa 20, 613794