PMRTP - PAINEL MULTIGENE DE INVESTIGAÇÃO DE RETINOPATIAS

O termo retinopatia designa todas as doenças degenerativas não inflamatórias da retina. Muitas delas estão associadas a hábitos de vida, estresse ou doenças de base, como a retinopatia diabética ou a causada pelo aumento da pressão arterial. Por outro lado, outros tipos de retinopatia tem forte componente genético envolvido, como a retinose pigmentar e a distrofia de cones e bastonetes. Neste painel a tecnica de sequenciamento genético é empregada para avaliar 222 genes associados com o desenvolvimento de retinopatias.

Retinopatia, Retinose pigmentar, Distrofia de cones e bastonetes

ABCA4, ABCB5, ABCC6, ABCD1, ABHD12, ACO2, ADAM9, ADGRV1, AGBL5, AHI1, AHR, AIPL1, ALMS1, ALPK1, AMACR, ARFGAP2, ARHGEF18, ARL13A, ARL2BP, ARL6, ARSG, ASRGL1, ATF6, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFH, CHM, CIB2, CISD2, CLCC1, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL18A1, COL9A3, CPLANE1, CRB1, CROCC, CRX, CTNNA1, CTSD, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, DNAJC5, DYNC2H1, EFEMP1, ELOVL4, ESPN, EXOSC2, EYS, FAM161A, FAM57B, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HGSNAT, HK1, HMCN1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IGFBP7, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, IRX5, ITM2B, KCNJ13, KCNV2, KCTD7, KIAA1549, KIF3B, KIF7, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRP5, LZTFL1, MAK, MAPKAPK3, MERTK, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MMACHC, MVK, MYO7A, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1LW, OTX2, PANK2, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PITPNM3, PNPLA6, POC5, PPP2R3C, PPP2R5E, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SCAPER, SDCCAG8, SEMA4A, SIX6, SLC24A1, SLC6A6, SLC7A14, SNRNP200, SPATA7, STX3, TCTN1, TCTN2, TEAD1, TIMM8A, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM237, TMEM67, TOPORS, TPP1, TRAPPC3, TREX1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TUB, TUBGCP4, TUBGCP6, TULP1, TYR, UNC119, USH1C, USH1G, USH2A, VPS13B, WDPCP, WDR19, WFS1, WHRN, ZNF408, ZNF513.