RPGR
Chr XXLRX-linkedretinitis pigmentosa GTPase regulator
Also known as: COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15
This gene encodes a guanine nucleotide exchange factor that activates RAB8A and RAB37, regulating ciliary trafficking and maintaining photoreceptor integrity in the retina. Mutations cause X-linked retinal dystrophies including retinitis pigmentosa, cone-rod dystrophy, and macular degeneration, with some cases associated with sinorespiratory infections and hearing loss. The gene is highly constrained against loss-of-function variants and follows X-linked recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 105 | 4 | 17 | 0 | 126 |
Likely Pathogenic | 69 | 10 | 1 | 0 | 80 |
VUS | 4 | 95 | 19 | 4 | 122 |
Likely Benign | 0 | 12 | 26 | 47 | 85 |
Benign | 0 | 2 | 3 | 1 | 6 |
Conflicting | — | 12 | |||
| Total | 178 | 123 | 66 | 52 | 431 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RPGR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (SKYLINE)
ACTIVE NOT RECRUITING4D-125 in Patients With X-Linked Retinitis Pigmentosa (XLRP)
ACTIVE NOT RECRUITINGA Follow-on Study for Second-Eye Treatment for Participants Previously Treated With Gene Therapy for X-Linked Retinitis Pigmentosa (XLRP)
ACTIVE NOT RECRUITINGA Clinical Trial Evaluating the Safety and Efficacy of a Single Subretinal Injection of AGTC-501 in Participants With XLRP
ACTIVE NOT RECRUITINGA Study Comparing Two Doses of AGTC-501 in Male Participants With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (DAWN)
ENROLLING BY INVITATIONSafety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations
ACTIVE NOT RECRUITINGLong-term Safety and Efficacy Follow-up of BIIB111 for the Treatment of Choroideremia and BIIB112 for the Treatment of X-Linked Retinitis Pigmentosa
ENROLLING BY INVITATIONFollow-up Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene
ACTIVE NOT RECRUITINGA Phase 2 Open-label Study to Evaluate the Safety of Laruparetigene Zovaparvovec Administered Bilaterally in Male Participants With X-Linked Retinitis Pigmentosa
RECRUITINGGene Therapy for RPGR Gene Mutation-associated X-linked Retinitis Pigmentosa
RECRUITINGInherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations
NOT YET RECRUITINGGene Therapy for Subjects With RPGR Mutation-associated X-linked Retinitis Pigmentosa
RECRUITINGExternal Resources
Links to major genomics databases and tools