Table 2.
Disease-Associated Genes Determined as Being Associated in Patients With IRD in the 2022 Gene Poll (N = 293)
| Gene | Patient Count | Gene | Patient Count | Gene | Patient Count |
|---|---|---|---|---|---|
| ABCA4 | 5878 | ND1 (MT-ND1) | 76 | NDP | 23 |
| USH2A | 2918 | WFS1 | 75 | NPHP4 | 23 |
| RPGR | 1962 | MT-TL1 | 72 | BBS7 | 22 |
| PRPH2 | 1582 | RDH5 | 72 | CC2D2A | 22 |
| RHO | 1510 | PDE6C | 69 | DRAM2 | 22 |
| CHM | 1015 | RLBP1 | 69 | PEX1 | 22 |
| EYS | 919 | IQCB1 (aka NPHP5) | 67 | TSPAN12 | 22 |
| BEST1 | 857 | TOPORS | 67 | LAMP2 | 21 |
| CRB1 | 708 | LCA5 | 66 | PHYH | 21 |
| PRPF31 | 689 | SAG | 66 | RIMS1 | 21 |
| RS1 | 686 | EFEMP1 | 65 | SLC24A1 | 21 |
| RP1 | 668 | OAT | 64 | BBS5 | 20 |
| CNGB3 | 651 | LRAT | 61 | BBS9 | 20 |
| CNGA3 | 510 | VPS13B | 60 | CACNA2D4 | 20 |
| MYO7A | 449 | BBS2 | 59 | C8orf37 | 19 |
| RPE65 | 437 | HGSNAT | 59 | CTNNA1 | 19 |
| CEP290 | 412 | LRP5 | 59 | CWC27 | 19 |
| CACNA1F | 387 | SPATA7 | 58 | PRPS1 | 19 |
| PROM1 | 377 | KLHL7 | 57 | RBP3 | 19 |
| NR2E3 | 367 | AHI1 | 56 | MKKS | 18 |
| GUCY2D | 362 | DHDDS | 54 | CEP250 | 17 |
| RDH12 | 357 | TTLL5 | 54 | MT-ATP6 | 17 |
| RP2 | 319 | C21orf2 (aka CFAP410) | 51 | PNPLA6 | 17 |
| PDE6B | 313 | ND6 (MT-ND6) | 51 | ARL6 | 16 |
| BBS1 | 311 | RP9 | 50 | ATF6 | 16 |
| CRX | 276 | ABCC6 | 48 | CNNM4 | 16 |
| PDE6A | 243 | KIZ | 47 | GNAT2 | 16 |
| CERKL | 242 | MFRP | 47 | IFT172 | 16 |
| FAM161A | 213 | FLVCR1 | 46 | PRPF6 | 16 |
| PRPF8 | 208 | NRL | 46 | RGR | 16 |
| CNGB1 | 187 | CDH3 | 45 | ARSG | 15 |
| IMPG2 | 185 | KIF11 | 44 | PDE6G | 15 |
| RP1L1 | 184 | ACO2 | 43 | PRCD | 15 |
| MERTK | 179 | C1QTNF5 | 43 | TUB | 15 |
| SNRNP200 | 174 | MFSD8 | 43 | USH1G | 15 |
| IMPDH1 | 170 | PRDM13 | 40 | SEMA4A | 14 |
| NYX | 160 | CEP78 | 39 | ZNF408 | 14 |
| CDHR1 | 158 | COL18A1 | 39 | GNAT1 | 13 |
| CLN3 | 150 | IMPG1 | 38 | ITM2B | 13 |
| TULP1 | 144 | FZD4 | 36 | KCNJ13 | 13 |
| KCNV2 | 142 | GRM6 | 36 | LAMA1 | 13 |
| ADGRV1 | 138 | HK1 | 36 | OTX2 | 13 |
| CDH23 | 134 | BBS12 | 35 | PEX6 | 13 |
| TRPM1 | 133 | POC1B | 32 | PITPNM3 | 13 |
| C2orf71 (aka PCARE) | 131 | GPR179 | 31 | RAB28 | 13 |
| AIPL1 | 127 | WDR19 | 31 | RD3 | 13 |
| RPGRIP1 | 120 | ABHD12 | 30 | SSBP1 | 13 |
| GUCA1A | 113 | OPN1LW only | 30 | GRK1 | 12 |
| CLRN1 | 109 | INPP5E | 29 | AGBL5 | 11 |
| PCDH15 | 109 | RAX2 | 28 | ARL2BP | 10 |
| MAK | 108 | ATXN7 | 27 | CAPN5 | 10 |
| TIMP3 | 108 | ELOVL4 | 27 | OFD1 | 10 |
| CYP4V2 | 106 | NPHP1 | 26 | PAX2 | 10 |
| ALMS1 | 99 | ADAM9 | 25 | TTC8 | 10 |
| CNGA1 | 91 | VCAN | 25 | TUBB4B | 10 |
| BBS10 | 88 | BBS4 | 24 | IDH3A | 9 |
| IFT140 | 86 | CABP4 | 24 | MTTP | 9 |
| NMNAT1 | 85 | JAG1 | 24 | TUBGCP6 | 9 |
| PRPF3 | 83 | REEP6 | 24 | LRIT3 | 8 |
| USH1C | 81 | ROM1 | 24 | RBP4 | 8 |
| COL2A1 | 80 | COL11A1 | 23 | SDCCAG8 | 8 |
| HARS | 7 | ARL13B | 3 | TREX1 | 2 |
| MVK | 7 | COL9A1 | 3 | TTC21B | 2 |
| P3H2 | 7 | CSPP1 | 3 | TTPA | 2 |
| TMEM231 | 7 | CTC1 | 3 | ASRGL1 | 1 |
| TRNT1 | 7 | CTNNB1 | 3 | C12orf65 | 1 |
| ARHGEF18 | 6 | MPDZ | 3 | CIB2 | 1 |
| ARL3 | 6 | MT-TS2 | 3 | CLCC1 | 1 |
| GNB3 | 6 | NPHP3 | 3 | CLN6 | 1 |
| MKS1 | 6 | PLA2G5 | 3 | COL9A3 | 1 |
| OPN1MW only | 6 | POC5 | 3 | COQ2 | 1 |
| RCBTB1 | 6 | SLC66A1 | 3 | GNPTG | 1 |
| FSCN2 | 5 | TRAF3IP1 | 3 | IDH3B | 1 |
| KIAA1549 | 5 | UNC119 | 3 | IFT27 | 1 |
| PANK2 | 5 | ZNF513 | 3 | IFT74 | 1 |
| PEX7 | 5 | ADIPOR1 | 2 | IFT88 | 1 |
| PLK4 | 5 | AMACR | 2 | KIAA0753 | 1 |
| PRPF4 | 5 | ARMC9 | 2 | MT-CYB | 1 |
| RGS9 | 5 | C5orf42 (aka CPLANE1) | 2 | MT-ND3 | 1 |
| SCAPER | 5 | CTSD | 2 | MT-TA | 1 |
| SRD5A3 | 5 | DHX38 | 2 | MT-TV | 1 |
| ADAMTS18 | 4 | DTHD1 | 2 | NEK2 | 1 |
| AFG3L2 | 4 | GRN | 2 | PEX12 | 1 |
| CA4 | 4 | IFT81 | 2 | PEX2 | 1 |
| CEP164 | 4 | KIF7 | 2 | RDH11 | 1 |
| CLUAP1 | 4 | MAPKAPK3 | 2 | RHBDD2 | 1 |
| COL11A2 | 4 | MT-RNR1 | 2 | RRM2B | 1 |
| DFNB31 (aka WHRN) | 4 | MT-TP | 2 | SAMD11 | 1 |
| DYNC2H1 (aka WDR34) | 4 | NAGLU | 2 | SCLT1 | 1 |
| GUCA1B | 4 | ND5 (MT-ND5) | 2 | SGSH | 1 |
| KIAA0586 | 4 | PCYT1A | 2 | SLC39A12 | 1 |
| MMACHC | 4 | PDE6H | 2 | SLC4A7 | 1 |
| NBAS | 4 | PEX13 | 2 | SLC7A14 | 1 |
| POMGNT1 | 4 | PEX26 | 2 | SPP2 | 1 |
| PPT1 | 4 | SLC25A46 | 2 | TCTN2 | 1 |
| RGS9BP | 4 | SLC37A3 | 2 | TLCD3B | 1 |
| RPGRIP1L | 4 | TMEM237 | 2 | ZNF423 | 1 |
| TUBGCP4 | 4 | TPP1 | 2 | ||