Gene therapy clinical trials
Gene: RPE65

RPE65 (RPE65, retinoid isomerohydrolase)
EnsemblGeneIds (GRCh38): ENSG00000116745
EnsemblGeneIds (GRCh37): ENSG00000116745
OMIM: 180069, Gene2Phenotype
RPE65 is in 11 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Biological: AAV RPE65 - https://ClinicalTrials.gov/show/NCT02781480, Biological: AAV OPTIRPE65 - https://ClinicalTrials.gov/show/NCT02946879, Genetic: GS010,Other: Sham Intravitreal Injection - https://ClinicalTrials.gov/show/NCT03406104, Biological: tgAAG76 (rAAV 2/2.hRPE65p.hRPE65) - https://ClinicalTrials.gov/show/NCT00643747
Created: 12 May 2018, 8:57 a.m.

Phenotypes
Leber Congenital Amaurosis; Leber Hereditary Optic Neuropathy; Eye Diseases; Eye Diseases, Hereditary; Retinal Diseases; Retinal Degeneration

Created: 12 May 2018, 8:57 a.m.

Panel version: 0.6

Details

Sources

Expert Review Green
ClinicalTrials.gov

Phenotypes

Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Eye Diseases
Eye Diseases, Hereditary
Retinal Diseases
Retinal Degeneration

OMIM

180069

Clinvar variants

Variants in RPE65

Penetrance

None

Panels with this gene

History Filter Activity

12 May 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RPE65 was added to Gene therapy clinical trials panel. Sources: ClinicalTrials.gov,Expert Review Green

12 May 2018, Gel status: 4

Created