Table 2.
List of genes included in the capture IRD panel
| Gene | Chr location | NCBI reference sequence | Exons | Pathology |
|---|---|---|---|---|
| ABCA4 | 1:94458391-94586688 | NM_000350.2 | 50 | ADRP, ARRP, ARCRD, ARMD, STGD |
| CDH23 | 10:73156691-73575702 | NM_022124.5 | 69 | USH, Deafness alone or syndromic |
| CERKL | 2:182401403-182545392 | NM_201548.4 | 14 | ARRP, ARCRD |
| CNGA1 | 4:47937994-48018689 | NM_001142564.1 | 10 | ARRP |
| CRB1 | 1:197170592-197447585 | NM_201253.2 | 12 | ARRP, ARLCA |
| EYS | 6:64429876-66417118 | NM_001142800.1 | 43 | ARRP |
| FSCN2 | 17:79495422-79504156 | NM_012418.3 | 5 | ADRP, ADMD |
| MERTK | 2:112656056-112787138 | NM_006343.2 | 19 | ARRP |
| MYO7A | 11:76839310-76926284 | NM_000260.3 | 49 | USH, Deafness alone or syndromic |
| NR2E3 | 15:72084977-72110559 | NM_016346.3 | 8 | ADRP, ARRP, ARESCS |
| PDE6B | 4:619373-664571 | NM_000283.3 | 22 | ARRP, ADCSNB |
| PROM1 | 4:15964699-16086001 | NM_006017.2 | 28 | ARRP, ADCRD, ADMD |
| PRPF3 | 1:150293925-150325671 | NM_004698.2 | 16 | ADRP |
| PRPF31 | 19:54618837-54635140 | NM_015629.3 | 14 | ADRP |
| PRPH2 | 6:42664340-42690312 | NM_000322.4 | 3 | ADRP, ADMD, ADCRD and digenic |
| RDH12 | 14:68168603-68201169 | NM_152443.2 | 9 | ADRP, ARLCA |
| RHO | 3:129247483-129254012 | NM_000539.3 | 5 | ADRP, ARRP, ADCSNB |
| RLBP1 | 15:89753098-89764922 | NM_000326.4 | 9 | ARRP |
| RP1 | 8:55471729-55682531 | NM_006269.1 | 4 | ADRP, ARRP |
| RP2 | X:46696375-46741793 | NM_006915.2 | 5 | XLRP |
| RPE65 | 1:68894505-68915642 | NM_000329.2 | 14 | ARRP, ARLCA |
| RPGR | X:38128424-38186817 | NM_001034853.1 | 19 | XLRP, XLCRD, XLMD |
| SAG | 2:234216309-234255701 | NM_000541.4 | 16 | ARRP, ARCSNB |
| TULP1 | 6:35465651-35480715 | NM_003322.4 | 15 | ARRP, ARLCA |
| USH1G | 17:72912176-72919351 | NM_173477.4 | 3 | USH |
| USH2A | 1:215796236-216596738 | NM_206933.2 | 73 | ARRP, USH |
RP: Retinitis pigmentosa; AD: Autosomal dominant; AR: Autosomal recessive; XL: X-linked; LCA: Leber congenital amaurosis; CRD: Cone or cone-rod dystrophy; MD: Macular degeneration; CSNB: Congenital stationary night blindness; USH: Usher syndrome; STGD: Stargardt disease; ESCS: Enhanced S-cone syndrome.