Table 2.

Genes Associated with Nonsyndromic Autosomal Dominant Retinitis Pigmentosa (adRP)

GeneFrequency 1, 2OMIM Phenotype Description 1Links to RetNet Database 2
ARL3 Rare 604695 RetNet
BEST1 Rare 613194 RetNet
CA4 Rare 600852 RetNet
CRX 1% of persons with adRP 602225 RetNet
FSCN2 Unlikely cause of disease 3 607921 RetNet
GUCA1B 5% in Japan; rare in UK 613827 RetNet
HK1 Rare 142600 RetNet
IMPDH1 2%-3% 180105 RetNet
KLHL7 1%-2% 612943 RetNet
NR2E3 1%-2% 611131 RetNet
NRL Rare 613750 RetNet
PRPF3 1% 601414 RetNet
PRPF6 Rare 613983 RetNet
PRPF8 2%-3% 600059 RetNet
PRPF31 48% of adRP; 2.5% of adRP is caused by PRPF31 genomic rearrangements detected by deletion/duplication analysis, not sequence analysis 600138 RetNet
PRPH2 5%-10% (Note: Phenotypes range from macular degeneration to complex maculopathies.) 608133 RetNet
RDH12 Unknown 608830 RetNet
RHO 20%-30% (Note: The variant NM_000539​.3:c.68C>A [NP_000530​.1:p.Pro23His], associated with distinct sectorial disease, is found in ~12%-14% of Americans of European origin with adRP. 5] 613731 RetNet
ROM1 Rare 608133 RetNet
RP1 3%-4% 180100 RetNet
RP9 (formerly PAP1)Rare; candidate gene, PAP1, is not supported by subsequent studies. 3 180104 RetNet
RPE65 Rare 613794 RetNet
SEMA4A 3%-4% in Pakistan 610282 RetNet
SNRNP200 1%-2% 610359 RetNet
SPP2 Rare 602637 RetNet
TOPORS 1% 609923 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.
4.

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

5.

From: Nonsyndromic Retinitis Pigmentosa Overview

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