| Poznámka |
Seznam genů analyzovaných v panelu pro dědičná onemocnění zadního segmentu oka (314 genů):
ABCA4, ABCC6, ABCD1, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, ADIPOR1, AGBL5, AHI1, AIPL1, ALMS1, AMACR, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARR3, ARSG, ATF6, ATOH7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CFAP410, PCARE, CPLANE1, CFAP418, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CEP83, CERKL, CHM, CIB2, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, COQ2, CPE, CRB1, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CTSD, CWC27, CYP4V2, WHRN, DHDDS, DHX38, DNAJC5, DRAM2, DTHD1, DYNC2H1, EFEMP1, ELOVL4, EMC1, ESPN, EXOSC2, EYS, FAM161A, FDXR, FLVCR1, FRMD7, FZD4, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCY2D, HARS, HGSNAT, HK1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, CRPPA, JAG1, KCNJ13, KCNV2, KATNIP, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF7, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MTTP, MVK, MYO7A, NAGLU, NDP, NEK2, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1SW, OTX2, P3H2, PANK2, PAX2, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDSS1, PDSS2, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PISD, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POMGNT1, PPT1, PRCD, PRDM13, 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, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SEMA4A, SGSH, SLC24A1, SLC25A46, SLC45A2, SLC7A14, SNRNP200, SPATA7, SPP2, SRD5A3, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, YME1L1, ZNF408, ZNF423, ZNF513 |