Neurologia e neuropediatria

Neuroexoma

Lista de Genes
AAAS, AARS1, AARS2, AASS, ABAT, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABCD4, ABHD12, ABHD5, ACACA, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTG1, ACTG2, ACVRL1, ACY1, ADAMTS2, ADAR, ADAT3, ADCY5, ADD3, ADGRG1, ADGRV1, ADK, ADNP, ADRA2B, ADSL, AFF2, AFG3L2, AGA, AGK, AGL, AGPAT2, AGRN, AGXT, AHI1, AIFM1, AIMP1, AKT1, AKT3, ALAD, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALS2, ALX1, ALX3, ALX4, AMACR, AMN, AMPD1, AMPD2, AMT, ANG, ANK3, ANKLE2, ANKRD11, ANO10, ANO3, ANO5, ANTXR1, AP1S1, AP1S2, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, ApoE, APP, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARL6IP1, ARSA, ARSB, ARSI, ARSL, ARV1, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATCAY, ATIC, ATL1, ATL3, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B3, ATP5F1A, ATP5F1E, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, AUH, AUTS2, AVP
B3GALNT2, B3GLCT, B4GALNT1, B4GALT1, B4GAT1, B9D1, B9D2, BAG3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCOR, BCS1L, BDNF, BEAN1, BICD2, BIN1, BOLA3, BRAF, BRAT1, BRF1, BRWD3, BSCL2, BSND, BVES
C12orf57, C19ORF12, C9ORF72, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1G, CACNA1S, CACNB4, CACNG2, CAD, CAMTA1, CAPN1, CAPN3, CARS2, CASK, CASQ1, CASR, CAV1, CAV3, CAVIN1, CBL, CC2D1A, CC2D2A, CCDC115, CCDC174, CCDC78, CCDC88C, CCM2, CCND2, CCT5, CD59, CD96, CDH15, CDK13, CDK5, CDK5RAP2, CDK6, CDKL5, CDON, CENPE, CENPJ, CEP104, CEP135, CEP152, CEP290, CEP41, CEP63, CERS1, CERT1, CFL2, CHAMP1, CHAT, CHCHD10, CHCHD2, CHD2, CHD7, CHKB, CHMP1A, CHMP2B, CHRNA1, CHRNA2, CHRNA4, CHRNA7, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CILK1, CIZ1, CLCN1, CLCN2, CLCN4, CLCNKA, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CNBP, CNNM2, CNTN1, CNTN2, CNTNAP2, COA5, COA6, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL12A1, COL13A1, COL18A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX14, COX15, COX6A1, COX6B1, COX8A, CP, CPA6, CPLANE1, CPS1, CPT1C, CPT2, CRADD, CRB2, CRBN, CREBBP, CRIPT, CRPPA, CRYAB, CSF1R, CSNK2A1, CSPP1, CST3, CSTB, CTC1, CTCF, CTDP1, CTNNB1, CTSD, CTSF, CUL4B, CWF19L1, CYP26B1, CYP27A1, CYP2U1, CYP7B1
DAG1, DARS1, DARS2, DBT, DCAF17, DCAF8, DCTN1, DCX, DDHD1, DDHD2, DDOST, DDX3X, DEAF1, DEPDC5, DES, DGUOK, DHCR7, DHH, DHTKD1, DIAPH1, DIAPH3, DIP2B, DKC1, DLD, DLG3, DLL4, DMD, DMPK, DMXL2, DNAJB2, DNAJB6, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNM1, DNM1L, DNM2, DNMT1, DOCK6, DOCK7, DOK7, DOLK, DPAGT1, DPH1, DPM1, DPM2, DPM3, DPP6, DRD2, DST, DYNC1H1, DYNC2H1, DYRK1A, DYSF
EARS2, EBF3, EBP, ECEL1, EDC3, EEF1A2, EEF2, EFHC1, EFTUD2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4G1, ELAC2, ELOVL4, ELOVL5, ELP1, ELP2, EMC1, EMD, EMX2, ENO3, ENTPD1, EOGT, EP300, EPB41L1, EPM2A, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ERLIN1, ERLIN2, ERMARD, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC8, EXOSC3, EXOSC8, EXT2
FA2H, FADD, FAM126A, FARS2, FASTKD2, FBLN5, FBN1, FBXL4, FBXO31, FBXO38, FBXO7, FGD1, FGD4, FGF12, FGF14, FGFR1, FGFR2, FH, FHL1, FIG4, FKRP, FKTN, FLNA, FLNC, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FREM1, FRMD4A, FRMD7, FRMPD4, FRRS1L, FTL, FTO, FTSJ1, FUS, FXN
G6PC1, GAA, GABRA1, GABRB1, GABRB3, GABRG2, GAD1, GAL, GALC, GALNS, GAMT, GAN, GARS1, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCSH, GDAP1, GDI1, GDNF, GFAP, GFER, GFM1, GFPT1, GJB1, GJC2, GK, GLA, GLB1, GLDC, GLE1, GLI2, GLI3, GLRA1, GLRB, GLRX5, GM2A, GMPPA, GMPPB, GNAL, GNAO1, GNB1, GNB4, GNB5, GNE, GNPAT, GNS, GOSR2, GPC3, GPR143, GPT2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GRN, GSN, GTPBP3, GUF1, GUSB, GYG1, GYS1, GYS2
HACE1, HADHA, HADHB, HARS1, HCCS, HCFC1, HCN1, HDAC6, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIKESHI, HINT1, HIVEP2, HK1, HMGB3, HNMT, HNRNPA1, HNRNPDL, HNRNPH2, HOXA1, HOXD10, HPCA, HPRT1, HRAS, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HSPG2, HTRA1, HTRA2, HTT, HUWE1
IARS1, IARS2, IBA57, IDS, IDUA, IER3IP1, IFIH1, IFT140, IFT27, IGBP1, IGF1, IGHMBP2, IKBKG, IL11RA, IL1RAPL1, IL1RN, INF2, INPP5E, INS, IQSEC2, IRX5, ISCU, ITGA7, ITM2B, ITPA, ITPR1
JAG1, JPH3, JRK
KANK1, KARS1, KAT6A, KAT6B, KATNB1, KBTBD13, KCNA1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNJ1, KCNJ10, KCNJ11, KCNJ2, KCNK18, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM1A, KDM5C, KDM6A, KIAA0586, KIDINS220, KIF11, KIF1A, KIF1B, KIF1C, KIF21A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIRREL3, KLC2, KLHL15, KLHL40, KLHL41, KMT2A, KMT2B, KMT2D, KNL1, KPTN, KRAS, KRIT1
L1CAM, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LBR, LDB3, LDHA, LGI1, LIG4, LIMS2, LINS1, LITAF, LMAN2L, LMBRD1, LMNA, LMNB1, LMNB2, LMOD3, LPIN1, LRP2, LRP4, LRPPRC, LRRK2, LRSAM1, LYRM4, LZTFL1, LZTR1
MAG, MAGEL2, MAN1B1, MAOA, MAPK10, MAPT, MARS1, MARS2, MASP1, MATR3, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED17, MED23, MED25, MEF2C, METTL23, MFF, MFN2, MFSD2A, MFSD8, MGAT2, MICU1, MID1, MID2, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOGS, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11, MRPL3, MRPL44, MRPS16, MRPS22, MSMO1, MSX2, MTFMT, MTHFR, MTM1, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRFR, MTRR, MTTP, MUSK, MVK, MYBPC1, MYCN, MYF6, MYH14, MYH2, MYH3, MYH7, MYO5A, MYOT, MYT1L
NAA10, NAGA, NAGLU, NALCN, NARS2, NAT8L, NDE1, NDN, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NEDD4L, NEFH, NEFL, NEU1, NEXMIF, NF1, NF2, NFIX, NFU1, NGF, NHEJ1, NHLRC1, NHP2, NHS, NIPA1, NIPBL, NKX2-1, NLRP3, NME1, NOL3, NONO, NOP10, NOP56, NOTCH1, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPRL2, NPRL3, NRAS, NRXN1, NSD1, NSDHL, NSUN2, NT5C2, NTRK1, NTRK2, NUBPL
OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPTN, ORC1, OTC
PAFAH1B1, PAH, PAK3, PANK2, PARK7, PARN, PAX2, PAX3, PC, PCBD1, PCDH19, PCLO, PCNA, PCNT, PDCD10, PDE10A, PDE4D, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDK3, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PHC1, PHF6, PHF8, PHKA1, PHKA2, PHOX2B, PHYH, PI4KA, PIEZO2, PIGA, PIGG, PIGL, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PIK3CA, PIK3R2, PIK3R5, PINK1, PLA2G6, PLCB1, PLEC, PLEKHG2, PLEKHG5, PLK4, PLP1, PMM2, PMP22, PMPCA, PNKD, PNKP, PNPLA2, PNPLA6, PNPLA8, PNPO, PNPT1, POGZ, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PPP1R15B, PPP2R1A, PPP2R2B, PPP2R5D, PPT1, PQBP1, PRDM8, PREPL, PRICKLE1, PRICKLE2, PRKCG, PRKDC, PRKN, PRKRA, PRNP, PROP1, PRPS1, PRRT2, PRRX1, PRSS12, PRSS56, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTEN, PTF1A, PTPN11, PTRH2, PTS, PURA, PUS1, PUS3, PYCR2, PYGL, PYGM
QARS1, QDPR
RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB7A, RAD21, RAD50, RAF1, RAI1, RAPSN, RARB, RARS1, RARS2, RAX, RBBP8, RBM10, RBM28, RBM8A, RBP4, RBPJ, REEP1, REEP2, RELN, RERE, RETREG1, RFT1, RIN2, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF135, RNF170, RNF216, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RTEL1, RTN2, RTN4IP1, RTTN, RUBCN, RXYLT1, RYR1
SACS, SAMHD1, SASS6, SBDS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHAF1, SELENON, SEPSECS, SEPTIN9, SERAC1, SERPINI1, SETBP1, SETD2, SETD5, SETX, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SH3TC2, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIGMAR1, SIK1, SIL1, SIX3, SKI, SLC12A1, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC37A4, SLC39A14, SLC39A8, SLC4A4, SLC5A7, SLC6A1, SLC6A17, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMN1, SMPD1, SMS, SNAP29, SNCA, SNCB, SNIP1, SNRPB, SNX14, SOBP, SOD1, SOS1, SOS2, SOX10, SOX11, SOX3, SPART, SPAST, SPATA5, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SQSTM1, SRD5A3, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAC3, STAMBP, STIL, STRADA, STT3A, STT3B, STUB1, STX1B, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SURF1, SYN1, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SYT14, SYT2, SZT2
TACO1, TAF1, TAF2, TAFAZZIN, TARDBP, TARS2, TBC1D24, TBC1D7, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBP, TBX1, TCAP, TCF12, TCF4, TCTN1, TCTN2, TCTN3, TDGF1, TDP1, TDP2, TECPR2, TECR, TENM4, TFAM, TFAP2A, TFAP2B, TFG, TG, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, THOC2, TIMM8A, TINF2, TK2, TKT, TMCO1, TMEM126A, TMEM138, TMEM165, TMEM199, TMEM216, TMEM231, TMEM237, TMEM240, TMEM43, TMEM67, TMEM70, TMLHE, TNIK, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPK1, TPM2, TPM3, TPP1, TRAPPC11, TRAPPC9, TRDN, TREM2, TREX1, TRIM2, TRIM32, TRIO, TRMT10A, TRNT1, TRPM6, TRPS1, TRPV4, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSPAN7, TTBK2, TTC19, TTC21B, TTC8, TTI2, TTN, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWNK, TXN2, TYMP, TYROBP
UBA1, UBA5, UBE2A, UBE3A, UBQLN2, UCHL1, UMPS, UNC80, UPB1, UPF3B, UQCC2, UQCC3, UQCRB, UQCRQ, USP27X, USP8, USP9X
VAMP1, VANGL1, VAPB, VARS2, VAX1, VCP, VIPAS39, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS13C, VPS33B, VPS35, VPS37A, VPS53, VRK1, VWA3B
WAC, WASHC4, WASHC5, WDPCP, WDR45, WDR48, WDR62, WDR81, WFS1, WNK1, WNT3, WNT5A, WNT7A, WRAP53, WWOX
XK, XPA, XPC, XPR1, XRCC4, XYLT1
YAP1, YARS1, YARS2
ZBTB16, ZBTB18, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZFR, ZFYVE26, ZFYVE27, ZIC1, ZIC2, ZMYND11, ZNF335, ZNF423, ZNF592, ZNF711
120 dias
2mL de sangue em tubo com EDTA