Atrofia do nervo óptico

Lista de Genes
AAAS, ABCA4, ABHD12, ACO2, ACOX1, ADA2, AFF4, AGBL5, AGXT, ALG13, ALG3, AMPD2, ANTXR1, ARHGEF18, ARL2BP, ARL6, ARSA, ARX, ASPA, ATAD3A, ATIC, ATP1A3, ATRX, AUH
B3GALNT2, B3GLCT, B4GAT1, B9D1, B9D2, BBS2, BCAP31, BCS1L, BEST1, BOLA3, BRAF, BRAT1, BTD
C19ORF12, CA2, CA4, CASK, CASR, CBS, CC2D2A, CCDC22, CCDC88A, CDHR1, CEP290, CERKL, CFAP410, CFAP418, CHD7, CHSY1, CISD2, CKAP2L, CLCN7, CLN3, CLRN1, CNGA1, CNGB1, CNNM4, COA5, COA7, COA8, COL4A1, COMT, COX10, COX14, COX15, COX20, COX6B1, CRB1, CRPPA, CRX, CSPP1, CTC1, CTNNB1, CYP7B1
DAG1, DDB2, DHCR7, DHDDS, DIAPH1, DKC1, DNAJC19, DNM1L, DNMT1, DOCK6, DPM1, DPM2, DPYD
EBP, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EMC1, EPG5, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, EYS
FA2H, FAM161A, FASTKD2, FGFR2, FGFR3, FH, FKRP, FKTN, FLVCR1, FOXRED1, FSCN2, FTL, FXN
GABRD, GALC, GJA1, GJC2, GLA, GLB1, GLRX5, GMPPA, GMPPB, GNA11, GNAQ, GNAS, GP1BB, GRN, GUCA1B
HGSNAT, HIKESHI, HIRA, HSD17B10
IBA57, IDH3B, IER3IP1, IFT140, IFT172, IKBKG, IMPDH1, IMPG2, INPP5K, ISCA2
JMJD1C
KCNAB2, KCNC3, KCTD7, KIF11, KIF1A, KIF7, KIZ, KLC2, KLHL7, KRAS
L2HGDH, LAMB1, LARGE1, LETM1, LRAT, LRP4, LRP5
MAG, MAK, MAP2K1, MAP2K2, MCOLN1, MECR, MERTK, MFF, MFN2, MFSD8, MGP, MICU1, MKS1, MMUT, MOGS, MPDU1, MPLKIP, MTFMT, MTO1, MTPAP, MTRFR, MYO5A
NAGA, NALCN, NARS2, NBAS, NDP, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NEDD4L, NEK2, NELFA, NIPBL, NLRP3, NMNAT1, NR2E3, NR2F1, NRL, NSD2, NT5C2, NUP62
OFD1, OPA1, OPA3
PANK2, PAX6, PCARE, PCK1, PCLO, PDE6A, PDE6B, PDE6G, PDHX, PDSS1, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PIEZO2, PIK3CA, PLA2G6, PLK4, PLP1, PNPLA6, POGZ, POLG, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PPT1, PRCD, PRDM16, PRKAR1A, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PSAP, PTPN22
RAB18, RAB23, RAB3GAP1, RAB3GAP2, RBM10, RBP3, RDH12, RECQL4, REEP6, RERE, RGR, RHO, RLBP1, RNF216, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPS6KA3, RREB1, RXYLT1
SAG, SCO1, SDHA, SDHAF1, SDHD, SEC23A, SEMA3E, SEMA4A, SH3BP2, SIL1, SKI, SLC19A2, SLC25A19, SLC25A46, SLC29A3, SLC52A2, SLC6A9, SLC7A14, SMOC1, SNAP29, SNRNP200, SNX10, SON, SOST, SOX5, SPATA7, SPG7, ST3GAL5, STAMBP, STT3B, SUMF1, SURF1
TACO1, TANGO2, TBC1D20, TBCD, TBCE, TBX1, TCIRG1, TCTN2, TFG, TGFB1, TIMM8A, TMEM107, TMEM126A, TMEM216, TMEM231, TMEM67, TMTC3, TNFRSF11B, TNFSF11, TOE1, TOPORS, TRAPPC11, TSC1, TSC2, TSFM, TTC8, TUB, TUBGCP4, TUBGCP6, TULP1, TWIST1, TWNK, TXN2
UBE3B, UCHL1, UFD1, USH2A
VCAN, VPS11, VPS13B, VPS33A
WASHC5, WDPCP, WDR73, WFS1, WNT3, WWOX
XPA, XPC
YAP1, YME1L1
ZNF408, ZNF513, ZNF592, ZNHIT3
90 dias
2mL de sangue em tubo com EDTA