Panel de Distrofia Macular
ABCA4, BEST1, C1QTNF5, CDH3, CERKL, CNGB3, CRB1, CRX, CTNNA1, DRAM2, EFEMP1, ELOVL4, IMPG1, IMPG2, KCNV2, MFSD8, NMNAT1#, PRDM13, PROM1, PRPH2, RAX2, RDH12, RDH5, RLBP1, RP1L1, RPGR, RS1, TIMP3
ABCA4, BEST1, C1QTNF5, CDH3, CERKL, CNGB3, CRB1, CRX, CTNNA1, DRAM2, EFEMP1, ELOVL4, IMPG1, IMPG2, KCNV2, MFSD8, NMNAT1#, PRDM13, PROM1, PRPH2, RAX2, RDH12, RDH5, RLBP1, RP1L1, RPGR, RS1, TIMP3
AIPL1, ALMS1*, BBS4, CABP4, CEP290*, CNGA3, CRB1, CRX, CWC27, DTHD1, GUCY2D, IDH3A, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1#, RD3, RDH12, RDH5, RPE65, RPGRIP1, SPATA7, TUBB4B, TULP1
AHI1, ARL13B, ARMC9, B9D1, B9D2, C21ORF2, C5ORF42, CC2D2A#, CEP104, CEP120, CEP164, CEP290*, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586#, KIAA0753, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L#, TCTN1#, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B,...
ACO2, AFG3L2*, ATAD3A*, AUH, C12ORF65, C19ORF12, CISD2*, DNAJC19, DNM1L, FDXR, ISCA2, MECR, MFN2, MGME1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG,...
KIT, KITLG, LZTR1, NF1*, NF2, PTPN11, RAF1, SMARCB1, SPRED1
ABCB6, ADAMTS18, ALDH1A3, BCOR, BMP4, BMP7, CDK9, CHD7, COL4A1, COX7B, CPAMD8*, CYP1B1, ERCC2, ERCC5, ERCC6*, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GJA1*, GRIP1, HCCS, HESX1, HMX1, MAB21L2, MFRP, MITF, NAA10, NDP, OCRL, OTX2, PAX2, PAX6,...
ABCA4, ABHD12, ADIPOR1*, AGBL5, AHI1, AIPL1, ARHGEF18, ARL2BP, ARL3, ARL6, BBS1, BBS2, BEST1, C1QTNF5, C21ORF2, C2ORF71, C8ORF37, CA4, CACNA1F, CDHR1, CEP290*, CERKL, CHM#, CLN3, CLRN1, CNGA1#, CNGB1, CNGB3, CRB1, CRX, CTNNA1, CWC27, CYP4V2, DHDDS, DHX38,...
CEP290*, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SCLT1#, SDCCAG8, TRAF3IP1
HESX1, OTX2, PAX6, SOX2*
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,...
ATOH7, BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CTC1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5*, NDP, NR2E3, P3H2, RCBTB1, RS1, TSPAN12, VCAN, ZNF408
ABHD12, ADGRV1, ARSG, CDH23, CEP250, CEP78, CIB2, CLRN1, DFNB31, ESPN*, HARS, MYO7A, PCDH15, PDZD7#, PEX1, PEX6, PRPS1*, TUBB4B, USH1C, USH1G, USH2A
COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LRP2, VCAN
ABCA4, CHM#, CYP4V2, ELOVL4, PLA2G5, PROM1, PRPH2, RDH5, RHO, RLBP1, RS1, VPS13B
CNTNAP2, COL4A1, CYP1B1, FOXC1, FOXE3, LMX1B, LTBP2, MAF#, MYOC, OPA1, OPA3, OPTN, PAX6, PITX2, PXDN, TBK1, TEK, TMEM126A, WDR36
AASS, ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, BCOR, CBS, COL18A1, FBN1, LTBP2, P3H2, PORCN, SUOX, VSX2
CHRDL1, CHST6, COL17A1, COL5A1, COL8A2, CYP4V2, DCN, FOXE3, GJA8, GRHL2, GSN, KERA, KRT12, KRT3, LCAT, LOXHD1, MAF#, NLRP3, OVOL2, PIKFYVE, PITX2, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1, ZNF469
CABP4, CACNA1F, CACNA2D4, CYP4V2, FRMD7, GNAT1, GNB3, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1
ABCA4, ADAM9, ADAMTS18, AIPL1, ARHGEF18, BEST1, C21ORF2, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP250, CEP78, CERKL, CLN3, CNGA3, CNGB3, CNNM4, CRB1, CRX, CYP4V2, ELOVL4, GNAT2, GUCA1A, GUCY2D, KCNV2, MERTK, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28,...
ABCB6, ADAMTS18, ADAMTSL4, AGK*, ALDH18A1, BCOR, BFSP1, BFSP2, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2*, CRYBB3, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, DNMBP, EPHA2, ERCC2, ERCC5, ERCC6*, ERCC8, EYA1, FAM126A, FOXE3, FTL,...
ALMS1*, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CEP19, CEP290*, CPE, IFT172, IFT27, LZTFL1, MKKS, MKS1, PNPLA6, SCAPER, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP
AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB, GPR143, HPS1*, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC38A8, SLC45A2, TYR*, TYRP1
ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, RGS9, RGS9BP
