RPGR-related retinopathy: genes and variants
RPGR-related retinopathy is linked to 1 analyzed protein (RPGR). 6 DNA variants are known to cause it; 7 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to RPGR-related retinopathy
RPGR: X-linked retinitis pigmentosa GTPase regulator
It coordinates protein trafficking through the photoreceptor connecting cilium, which is essential for continual renewal of outer segments. Pathogenic variants are a major cause of X-linked retinitis pigmentosa and can also produce cone-rod dystrophy.
6 disease-causing and 7 uncertain variants in RPGR are linked to RPGR-related retinopathy.
Known disease-causing variants in RPGR-related retinopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RPGR G60V | 60 | RCC1 1 | Disease-causing (★★★) |
| RPGR G275S | 275 | RCC1 5 | Disease-causing (★★★) |
| RPGR T103I | 103 | RCC1 1 | Disease-causing (★★★) |
| RPGR G173R | 173 | RCC1 3 | Disease-causing (★★★) |
| RPGR G198E | 198 | RCC1 3 | Disease-causing (★★★) |
| RPGR G436D | 436 | Disease-causing (★★★) |
Same protein, different disease
- Primary ciliary dyskinesia is also caused by RPGR variants; they fall mostly in different places as the RPGR-related retinopathy variants (6 disease-causing).
- Retinitis pigmentosa is also caused by RPGR variants; they fall mostly in different places as the RPGR-related retinopathy variants (4 disease-causing).
Diseases related to RPGR-related retinopathy
- Retinitis pigmentosa, also linked to RPGR
- Cone-rod dystrophy, also linked to RPGR
- Primary ciliary dyskinesia, also linked to RPGR
Frequently asked questions
Which genes are linked to RPGR-related retinopathy?
In CATVariant, RPGR-related retinopathy is linked to 1 analyzed protein: RPGR (X-linked retinitis pigmentosa GTPase regulator).
How many genetic variants are linked to RPGR-related retinopathy?
28 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in RPGR-related retinopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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