Table 1. Disease genes: human retinitis pigmentosa.
| Gene~ | Inheritance* | Potential function | Estimated frequency | Studies |
|---|---|---|---|---|
| RHO | Dominant & recessive | Phototransduction | 20-30% & <1% | (11,12) |
| GUCA1B | Dominant | Phototransduction | Rare (4-5% in Japan) | (13) |
| RDH12 | Dominant | Phototransduction | Unknown | (14,15) |
| PDE6A | Recessive | Phototransduction | 2-5% | (16,17) |
| PDE6B | Recessive | Phototransduction | 2-8% | (18,19) |
| SAG | Recessive | Phototransduction | 2-3% in Japan | (20) |
| CNGA1 | Recessive | Phototransduction | 1-2% | (21,22) |
| CNGB1 | Recessive | Phototransduction | <1% | (23,24) |
| PDE6G | Recessive | Phototransduction | <1% | (25) |
| RPE65 | Dominant & recessive | Retinal metabolism | Rare & 2-5% | (26,27) |
| LRAT | Recessive | Retinal metabolism | <1% | (28,29) |
| RBP3 | Recessive | Retinal metabolism | <1% | (30,31) |
| RGR | Recessive | Retinal metabolism | <1% | (32) |
| RLBP1 | Recessive | Retinal metabolism | <1% | (33,34) |
| ABCA4 | Recessive | Retinal metabolism | 2-5% | (3,35) |
| MVK | Recessive | Retinal metabolism/unknown | Unknown | (36) |
| IDH3B | Recessive | Citric acid cycle | <1% | (37) |
| PRPF31 | Dominant | Splicing | 5-10% | (38-40) |
| PRPF8 | Dominant | Splicing | 2-3% | (39,41) |
| PRPF3 | Dominant | Splicing | 1% | (39,42) |
| PRPF4 | Dominant | Splicing | Unknown | (43,44) |
| PRPF6 | Dominant | Splicing | Rare | (45) |
| RP9/PAP1 | Dominant | Splicing | Rare | (46,47) |
| SNRNP200 | Dominant | Splicing | 1-2% | (48-50) |
| DHX38 | Recessive | Splicing | Unknown | (51) |
| NR2E3 | Dominant & recessive | Transcription factor | 1-2% & Rare | (52,53) |
| CRX | Dominant | Transcription factor | 1% | (54,55) |
| ZNF513 | Recessive | Transcription factor | <1% | (56,57) |
| RP1 | Dominant & recessive | Tissue development & maintenance | 3-4% & <1% | (58,59) |
| NRL | Dominant & recessive | Tissue development & maintenance | Rare & <1% | (60,61) |
| SEMA4A | Dominant | Tissue development & maintenance | Rare (3-4% in Pakistan) | (62) |
| FAM161A | Recessive | Tissue development & maintenance | <1% | (63,64) |
| TULP1 | Recessive | Tissue development & maintenance | <1% | (65,66) |
| CRB1 | Recessive | Tissue development & maintenance | 6-7% in Spain | (67,68) |
| RP2 | X-linked | Tissue development & maintenance | 10-20% (X-linked) | (69,70) |
| ARL2BP | Recessive | Photoreceptor maintenance & function | Unknown | (71) |
| IMPDH1 | Dominant | Regulates cell growth | 2-3% | (2,72) |
| USH2A | Recessive | Cellular structure | 10-15% | (73,74) |
| FSCN2 | Dominant | Cellular structure | Rare (3% in Japan) | (75,76) |
| ROM1 | Dominant | Cellular structure | Rare | (77,78) |
| IMPG2 | Recessive | Cellular structure | <1% | (79,80) |
| MAK | Recessive | Cellular structure | <1% | (81,82) |
| PROM1 | Recessive | Cellular structure | <1% | (83,84) |
| PRPH2 | Dominant | Photoreceptor OS structure | 5-10% | (85-87) |
| CLRN1 | Recessive | Photoreceptor structure | <1% | (88) |
| DHDDS | Recessive | Photoreceptor structure | <1% | (89,90) |
| MERTK | Recessive | Transmembrane protein | <1% | (91,92) |
| TTC8 | Recessive | Transmembrane protein | <1% | (93) |
| ARL6 | Recessive | Transmembrane protein | <1% | (94,95) |
| BEST1 | Dominant & recessive | Anion channel | Rare & <1% | (96,97) |
| RPGR | X-linked | Intraflagellar transport | 70-90% (X-linked) | (4,98,99) |
| KLHL7 | Dominant | Ubiquitin—proteasome protein degradation | 1-2% | (100,101) |
| TOPORS | Dominant | Ubiquitin-protein ligase | 1% | (102,103) |
| EYS | Recessive | Cell signalling | Common in China (10-30% in Spain) | (104,105) |
| CERKL | Recessive | Cell signalling | 3-4% in Spain | (106,107) |
| KIZ | Recessive | Cell division | <1% in North African Sephardic Jews | (108) |
| NEK2 | Recessive | Cell division | Unknown | (109) |
| CA4 | Dominant | Unknown | Rare | (110,111) |
| C2orf71 | Recessive | Unknown | <1% | (112,113) |
| C8orf37 | Recessive | Unknown | <1% | (114,115) |
| PRCD | Recessive | Unknown | <1% | (116,117) |
| SPATA7 | Recessive | Unknown | <1% | (118,119) |
| EMC1 | Recessive | Unknown | Unknown | (120) |
| GPR125 | Recessive | Unknown | Unknown | (120) |
| KIAA1549 | Recessive | Unknown | Unknown | (120) |
| SLC7A14 | Recessive | Unknown | ~2% | (121) |
~, adapted from sources http://www.ncbi.nlm.nih.gov/books/NBK1417/ & https://sph.uth.edu/Retnet/; *, dominant, autosomal dominant; recessive, autosomal recessive.