Ophthalmological ciliopathies

Gene: RPE65

Red List (low evidence)

RPE65 (RPE65, retinoid isomerohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000116745
EnsemblGeneIds (GRCh37): ENSG00000116745
OMIM: 180069, Gene2Phenotype
RPE65 is in 13 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: retinitis pigmentosa and Leber's congenital amaurosis are not included on this panel
Created: 23 Jan 2017, 4:46 p.m.

History Filter Activity

8 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: RPE65 was added gene: RPE65 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red Mode of inheritance for gene: RPE65 was set to Phenotypes for gene: RPE65 were set to Ciliopathies