Table 2 Contribution of causative genes
From: Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry
Gene(s) | Number of cases of solved cohort (%) | Gene(s) | Number of families of solved cohort (%) |
|---|---|---|---|
ABCA4 | 124 (12.0%) | ABCA4 | 106 (13.0%) |
EYS | 95 (9.2%) | ||
RPGR | 76 (7.3%) | EYS | 81 (10.0%) |
USH2A | 64 (6.2%) | USH2A | 56 (6.9%) |
RHO | 41 (4.0%) | ||
RS1, PRPH2 | 27 (2.6%) per gene | RPGR | 30 (3.7%) |
RPE65 | 26 (2.5%) | RHO | 27 (3.3%) |
ABCC6, BEST1 | 25 (2.4%) per gene | RS1 | 21 (2.6%) |
MYO7A | 21 (2.0%) | RPE65, ABCC6 | 20 (2.5%) per gene |
BBS1 | 17 (1.6%) | MYO7A, PRPH2 | 17 (2.1%) per gene |
PRPF31 | 16 (1.5%) | BEST1 | 16 (2.0%) per gene |
PAX6 | 15 (1.4%) | BBS1 | 15 (1.8%) per gene |
PROM1, NR2E3, CNGB1 | 12 (1.2%) per gene | PRPF31 | 13 (1.6%) |
KCNV2, IMPG2, MT-TL1, RDH5 | 11 (1.1%) per gene | KCNV2 | 11 (1.4%) |
VCAN, CERKL, PDE6A, CRB1, CNGB3 | 10 (1.0%) per gene | PROM1, NR2E3, CERKL, CRB1, CNGB1 | 10 (1.2%) per gene |
LRAT, ADGRV1, TYR | 9 (0.9%) per gene | PAX6, ADGRV1, PDE6A, RDH5 | 9 (1.1%) per gene |
CHM, RDH12, MERTK | 8 (0.8%) per gene | TYR, CNGB3, MT-TL1 | 8 (1.0%) per gene |
CEP290, CNGA3, RPGRIP1, COL2A1 | 7 (0.7%) per gene | VCAN, CEP290, RDH12, RPGRIP1 | 7 (0.9%) per gene |
PDE6B, BBS10, IMPDH1 | 6 (0.6%) per gene | IMPG2, MERTK, CNGA3 | 6 (0.7%) per gene |
CACNA1F, NMNAT1, PRPF8, SDCCAG8, RP1, RP2, PCARE, C1QTNF5, MT-ATP6, BBS2 | 5 (0.5%) per gene | NMNAT1, PRPF8, SDCCAG8, RP1 | 5 (0.6%) per gene |
HGSNAT, IMPG1, OAT, CDH3, COL4A5, PANK2, ARSG, NA | 4 (0.4%) per gene | PDE6B, IMPG1, CACNA1F, LRAT, CDH3, COL4A5, PANK2, BBS10, RP2, PCARE, IMPDH1, COL2A1, BBS2, NA | 4 (0.5%) per gene |
BBS12, RLBP1, ATXN7, MKKS, ABHD12, GRK1, SPATA7, GUCY2D, TTLL5, WDR19, MFRP, COL18A1, CRX, CDH23, MITF | 3 (0.3%) per gene | HGSNAT, BBS12, OAT, RLBP1, CHM, ARSG, SPATA7, GUCY2D, WDR19, MFRP, MT-ATP6, COL18A1, CDH23 | 3 (0.4%) per gene |
NPHP1, SLC38A8, TOPORS, AIPL1, VPS13B, PDE6C, TRPM1, CYP4V2, CEP250, PEX1, PYGM, CDH7, CNNM4, KIZ, ALMS1, PISD, NPHP4, OCA2, RAB28 | 2 (0.2%) per gene | SLC38A8, TOPORS, AIPL1, VPS13B, PDE6C, TRPM1, CYP4V2, ATXN7, ABHD12, CEP250, TTLL5, PYGM, C1QTNF5, CHD7, CRX, CNNM4, MITF, ALMS1, OCA2 | 2 (0.2%) per gene |
ATF6, DNAJC21, GPATCH11, AHI1, DMPK, BBS4, RP1L1, USH1G, CPLANE1, POC1B, HPS6, TTC8, SAG, PAX2, LCA5, IFT140, COL11A1, GPR143, KLHL7, HADHA, PMM2, COL4A3, SLC19A2, PRPF3, MMACHC, COL4A4, ADAM9, CACNA2D4, KIF11, LYST, CNGA1, CDHR1, IDS, TRAF3IP1, SLC24A1, TTPA, TIMP3, OTX2, IQCB1, ARL2BP, SCAPER, PDZD7, RBP4, PPT1, BBS7, IFT122 | 1 (0.1%) per gene | NPHP1, ATF6, DNAJC21, GPATCH11, AHI1, DMPK, BBS4, RP1L1, USH1G, CPLANE1, POC1B, HPS6, MKKS, TTC8, GRK1, SAG, PAX2, PEX1, LCA5, IFT140, COL11A1, GPR143, KLHL7, HADHA, PMM2, COL4A3, SLC19A2, PRPF3, MMACHC, COL4A4, ADAM9, CACNA2D4, KIF11, LYST, CNGA1, CDHR1, IDS, KIZ, TRAF3IP1, PISD, SLC24A1, TTPA, TIMP3, OTX2, IQCB1, ARL2BP, SCAPER, PDZD7, RBP4, PPT1, NPHP4, BBS7, IFT122, RAB28 | 1 (0.1%) per gene |
