RPE65

RPE65, retinoid isomerohydrolase
OMIM: 180069, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green RPE65 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 2 MIM#204100 Retinitis pigmentosa 20 MIM#613794 Retinitis pigmentosa 87 with choroidal involvement MIM#618697
Green RPE65 in Additional findings_Adult Level 2: Screening Version 0.166	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes RPE-related retinopathy
Red RPE65 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Not set	Sources Emory Genetics Laboratory
Green RPE65 in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.147 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 20 Leber congenital amaurosis 2, 204100
Green RPE65 in Retinitis pigmentosa_Autosomal Dominant Level 2: Ophthalmological disorders Version 0.57 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 20 Leber congenital amaurosis 2, 204100
Green RPE65 in Congenital Stationary Night Blindness Level 2: Ophthalmological disorders Version 0.23 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 20 Leber congenital amaurosis 2, 204100 Leber Congenital Amaurosis Leber congenital amaurosis 2
Green RPE65 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 2, 204100 (3)
Green RPE65 in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Leber congenital amaurosis 2, 204100
Green RPE65 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 2, 204100 (3)
Green RPE65 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes Leber congenital amaurosis 2 MIM#204100 Retinitis pigmentosa 20 MIM#613794 Tags for review treatable ophthalmological
Green RPE65 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 2, 204100 (3)
Green RPE65 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.6 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of vitamin A metabolism RPE65-related recessive retinopathy MONDO:0100368