RPGR Chromosome X
Retinitis pigmentosa GTPase regulator
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What This Gene Does
This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]
Associated Conditions (33)
Primary ciliary dyskinesia
Retinal dystrophy
Retinitis pigmentosa
X-linked cone-rod dystrophy 1
RPGR-related retinopathy
Retinitis pigmentosa 3
Macular degeneration
X-linked atrophic
X-linked
and sinorespiratory infections
with or without deafness
Thyroid cancer
nonmedullary
1
RPGR-related disorder
RETINITIS PIGMENTOSA
SINORESPIRATORY INFECTIONS
AND DEAFNESS
Macular dystrophy
Congenital stationary night blindness
+13 more conditions
Key Variants
RS1064797363
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1064797366
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa, Retinal dystrophy
Health Risk
RS1156891581
Conflicting classifications of pathogenicity
X-linked cone-rod dystrophy 1, Primary ciliary dyskinesia, X-linked cone-rod dystrophy 1
Health Risk
RS1222240619
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1230328335
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1238945219
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1242143931
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1264379650
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1285073212
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1356107537
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Primary ciliary dyskinesia, Retinitis pigmentosa
Health Risk
RS1380365858
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1384034145
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
All Variants (644)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147290553 | Health Risk | Likely pathogenic | RPGR-related retinopathy, RPGR-related retinopathy |
| RS2147291671 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2519758093 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519779804 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519780631 | Health Risk | Likely pathogenic | Retinitis pigmentosa, X-linked, and sinorespiratory infections |
| RS2519780655 | Health Risk | Likely pathogenic | — |
| RS2519780828 | Health Risk | Likely pathogenic | X-linked cone-rod dystrophy 1, X-linked cone-rod dystrophy 1 |
| RS2519780839 | Health Risk | Likely pathogenic | X-linked cone-rod dystrophy 1, X-linked cone-rod dystrophy 1 |
| RS2519785259 | Health Risk | Likely pathogenic | — |
| RS2519787589 | Health Risk | Likely pathogenic | — |
| RS2519788844 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, RPGR-related retinopathy, Primary ciliary dyskinesia |
| RS2519789871 | Health Risk | Likely pathogenic | — |
| RS2519791076 | Health Risk | Likely pathogenic | — |
| RS2519791783 | Health Risk | Likely pathogenic | — |
| RS2519792048 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519792465 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519792588 | Health Risk | Likely pathogenic | — |
| RS2519792822 | Health Risk | Likely pathogenic | — |
| RS2519793023 | Health Risk | Likely pathogenic | — |
| RS2519793270 | Health Risk | Likely pathogenic | — |
| RS2519793295 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519793716 | Health Risk | Likely pathogenic | — |
| RS2519793746 | Health Risk | Likely pathogenic | Retinitis pigmentosa 3, Retinal dystrophy, Retinitis pigmentosa 3 |
| RS2519793840 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2519794313 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519794381 | Health Risk | Likely pathogenic | — |
| RS2519794693 | Health Risk | Likely pathogenic | — |
| RS2519794803 | Health Risk | Likely pathogenic | RPGR-related disorder, RPGR-related disorder |
| RS2519795016 | Health Risk | Likely pathogenic | — |
| RS2519795129 | Health Risk | Likely pathogenic | — |
| RS2519795177 | Health Risk | Likely pathogenic | Retinitis pigmentosa 3, Retinitis pigmentosa 3 |
| RS2519795233 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519795270 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519797884 | Health Risk | Likely pathogenic | Retinitis pigmentosa 3, Macular degeneration, X-linked atrophic |
| RS2519798131 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519798169 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519798571 | Health Risk | Likely pathogenic | — |
| RS2519798614 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519799028 | Health Risk | Likely pathogenic | X-linked cone-rod dystrophy, X-linked cone-rod dystrophy |
| RS2519799157 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519806194 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519806377 | Health Risk | Likely pathogenic | — |
| RS2519822407 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Thyroid cancer, nonmedullary |
| RS2519822632 | Health Risk | Likely pathogenic | — |
| RS2519822953 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519829231 | Health Risk | Likely pathogenic | — |
| RS2519829361 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519836297 | Health Risk | Likely pathogenic | — |
| RS2519847231 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2519847311 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |