Identity
HGNC
LOCATION
Xp11.4
LOCUSID
ALIAS
COD1,CORDX1,CRD,PCDX,RP15,RP3,XLRP3,orf15
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6103
MIM: 312610
HGNC: 10295
Ensembl: ENSG00000156313
Variants:
dbSNP: 6103
ClinVar: 6103
TCGA: ENSG00000156313
COSMIC: RPGR
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38534367 | 2024 | Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene. | 0 |
| 38586605 | 2024 | Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss. | 0 |
| 38534367 | 2024 | Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene. | 0 |
| 38586605 | 2024 | Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss. | 0 |
| 35794468 | 2023 | Identification of RPGR ORF15 mutation for X-linked retinitis pigmentosa in a large Chinese family and in vitro correction with prime editor. | 3 |
| 36017691 | 2023 | Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature. | 2 |
| 36050475 | 2023 | Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes. | 3 |
| 36593651 | 2023 | Identification of circular RNAs hosted by the RPGR ORF15 genomic locus. | 2 |
| 36607619 | 2023 | Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers. | 2 |
| 36882936 | 2023 | Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations. | 0 |
| 37284979 | 2023 | Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells. | 2 |
| 37541846 | 2023 | Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations. | 0 |
| 37695603 | 2023 | RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15. | 0 |
| 37895299 | 2023 | Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype. | 1 |
| 38069202 | 2023 | Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR(ORF15) Genetic Variants. | 0 |
Citation
Dessen P
RPGR (retinitis pigmentosa GTPase regulator)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72782/rpgr-(retinitis-pigmentosa-gtpase-regulator)
