Autosomal dominant retinitis pIgMentosa, NGS


Identify autosomal dominant mutations causing retinitis pigmentosa; familial risk counseling.
Genelist (41): AIPL1, ARL3, BEST1, C1QTNF5, CA4, CRB1, CRX, EMC1, EYS, FSCN2, GUCA1B, HK1, IMPDH1, IMPG1, KLHL7, LCA5, NR2E3, NRL, PDE6B, PITPNM3, PRKCG, PRPF3, PRPF4, PRPF31, PRPF6, PRPF8, PRPH2, RDH5, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPGR, RPE65, SPP2, SEMA4A, SNRNP200, TOPORS