Gene therapy clinical trials
Gene: RPGREnsemblGeneIds (GRCh38): ENSG00000156313
EnsemblGeneIds (GRCh37): ENSG00000156313
OMIM: 312610, Gene2Phenotype
RPGR is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
Biological: AAV-RPGR - trial https://ClinicalTrials.gov/show/NCT03116113, Genetic: AAV-RPGR - https://ClinicalTrials.gov/show/NCT03252847Created: 12 May 2018, 8:57 a.m.
Phenotypes
X-Linked Retinitis Pigmentosa
Details
- Sources
-
- Expert Review Green
- ClinicalTrials.gov
- Phenotypes
-
- X-Linked Retinitis Pigmentosa
- OMIM
- 312610
- Clinvar variants
- Variants in RPGR
- Penetrance
- None
- Panels with this gene
-
- Retinal disorders
- Respiratory ciliopathies including non-CF bronchiectasis
- Ophthalmological ciliopathies
- Structural eye disease
- Monogenic hearing loss
- Intellectual disability
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)RPGR was added to Gene therapy clinical trials panel. Sources: ClinicalTrials.gov,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)RPGR was created by Ellen McDonagh