Table 3.

Genes Associated with Nonsyndromic Autosomal Recessive Retinitis Pigmentosa (arRP)

GeneFrequency 1, 2OMIM Phenotype Description 1Links to RetNet Database 2
ABCA4 2%-5% 601718 RetNet
ADGRA3 Rare 612303 RetNet
AGBL5 Rare 617023 RetNet
ARL6 Rare 613575 RetNet
ARL2BP Rare 615434 RetNet
BBS1 ≤1% 209901 RetNet
BBS2 ≤1% 616562 RetNet
BEST1 ≤1% 613194 RetNet
PCARE (C2orf71)≤1% 613428 RetNet
CFAP418
(C8orf37)		≤1% 614500 RetNet
CERKL 3%-4% in Spain 608380 RetNet
CLRN1 ≤1% 614180 RetNet
CNGA1 1%-2% 613756 RetNet
CNGB1 ≤1% 613767 RetNet
CRB1 36%-7% in Spain 600105 RetNet
CYP4V2 ≤1% 608614 RetNet
DHDDS ≤1% 613861 RetNet
DHX38 ≤1% 605584 RetNet
EMC1 ≤1% 616846 RetNet
EYS 10%-30% in Spain; common in China 602772 RetNet
FAM161A ≤1% 606068 RetNet
HGSNAT ≤1% 616544 RetNet
IDH3B ≤1% 612572 RetNet
IFT140 3≤1% 617781 RetNet
IFT172 ≤1% 616394 RetNet
IMPG2 ≤1% 613581 RetNet
KIAA1549 Rare 613344 RetNet
KIZ Rare 615780 RetNet
LRAT ≤1% 613341 RetNet
MAK ≤1% 614181 RetNet
MERTK ≤1% 613862 RetNet
MVK Rare 251170 RetNet
NEK2 Rare 615565 RetNet
NEUROD1 Rare 601724 RetNet
NR2E3 Rare; found in Sephardic Jews in Portugal 611131 RetNet
NRL ≤1% 613750 RetNet
PDE6A 2%-5% 180071 RetNet
PDE6B 2%-5% 613801 RetNet
PDE6G ≤1% 613582 RetNet
POMGNT1 Rare 617123 RetNet
PRCD ≤1% 610599 RetNet
PROM1 ≤1% 612095 RetNet
RBP3 ≤1% 615233 RetNet
RGR ≤1% 613769 RetNet
RHO ≤1% 613731 RetNet
RLBP1 ≤1% 180090 RetNet
RP1 ≤1% 180100 RetNet
RPE65 2%-5% 613794 RetNet
SAG 2%-3% in Japan 613758 RetNet
SPATA7 ≤1% 604232 RetNet
SLC7A14 Rare 615725 RetNet
TRNT1 Rare 612907 RetNet
TTC8 ≤1% 613464 RetNet
TULP1 ≤1% 600132 RetNet
USH2A 310%-15% (Note: Also causes Usher syndrome type II.) 613809 RetNet
ZNF408 ≤1% 616469 RetNet
ZNF513 ≤1% 613617 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 a pathogenic variant in a given gene) see RetNet.

3.

Noncoding variants have been identified that would not be detected by exome sequencing [Daich Varela et al 2023].

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.