Table 4.

Genes Associated with Nonsyndromic X-Linked RP (xlRP)

GeneFrequency 1, 2OMIM Phenotype Description 1Links to RetNet Database 2
OFD1 Rare 300424 RetNet
RP2 10%-20% 312600 RetNet
RPGR 70%-90% 3 300029 RetNet

Information is presented alphabetically by gene.

Data are compiled from the following standard references: gene from HGNC; OMIM numbers from OMIM; protein from UniProt. See RetNet for mapped loci for which no gene has yet been identified.

See Retinitis Pigmentosa: Phenotypic Series to view genes associated with this phenotype in OMIM.

1.

OMIM gene description is provided if an OMIM retinitis pigmentosa phenotype description is not available.

2.

For additional information including allelic disorders (i.e., other phenotypes associated with mutation in a given gene) see RetNet.

3.

Pathogenic variants in RPGR (also called RP3) and RP2 are the most common causes of xlRP. Linkage studies suggest that they account for 70%-90% and 10%-20% of xlRP, respectively [Vervoort et al 2000]. Note: Earlier studies of RPGR failed to find a pathogenic variant in a majority of families that mapped to RP3; however, identification of an additional exon in RPGR (ORF15) substantially increased the detection rate [Bader et al 2003]. ORF15 is the site of many of the pathogenic variants at this locus [Mears et al 2000, Rozet et al 2002, Sharon et al 2003].

From: Nonsyndromic Retinitis Pigmentosa Overview

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.