Тест 68.
Двигателни нарушения
Мутации в 1360 гена, свързани с хорея, дистония и други двигателни нарушения
AAAS, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA2, ABCA7, ABCB11, ABCB4, ABCB7, ABCC8, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD5, ACO2, ACOX1, ACOX2, ACP5, ACSF3, ACTB, ACTL6B, ACY1, ADA, ADA2, ADAMTS13, ADAR, ADCY5, ADCY6, ADD3, ADGRG1, ADPRS, ADSL, AFG3L2, AGA, AGK, AGL, AGPS, AGTPBP1, AGXT, AHI1, AIFM1, AIMP1, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALS2, AMACR, AMN, AMPD2, AMT, ANG, ANK3, ANKLE2, ANKS6, ANO10, ANO3, ANOS1, AP1S2, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOA5, APOB, APOC2, APOE, APOPT1, APP, APRT, APTX, ARCN1, ARFGEF2, ARG1, ARL13B, ARL6, ARL6IP1, ARMC9, ARNT2, ARSA, ARSB, ARSE, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASS1, ATAD3A, ATCAY, ATG5, ATIC, ATL1, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP5F1E, ATP6AP1, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATP8B1, ATPAF2, ATRX, ATXN1, ATXN10, ATXN7, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11B, BCOR, BCS1L, BDNF, BICD2, BOLA3, BRAT1, BSCL2, BTD, C12orf4, C12orf65, C19orf12, C1QBP, C21orf2, C2CD3, C5orf42, C9orf72, CA5A, CA8, CACNA1A, CACNA1B, CACNA1D, CACNA1G, CACNA2D2, CACNB4, CAMK4, CAMTA1, CAPN1, CARS2, CASK, CAT, CAV1, CBS, CC2D2A, CCDC115, CCDC28B, CCDC88C, CCT5, CDKL5, CENPF, CEP104, CEP120, CEP152, CEP164, CEP290, CEP41, CEP83, CFAP43, CFH, CHAMP1, CHCHD10, CHKB, CHMP1A, CHMP2B, CHP1, CHST14, CHST3, CHST6, CHSY1, CISD2, CIT, CIZ1, CKAP2L, CLCN2, CLDN16, CLDN19, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNNM2, CNTN2, CNTNAP1, CNTNAP2, COA3, COA6, COA7, COA8, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COL6A3, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, COX8A, CP, CPLANE1, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRB2, CREBBP, CRLF1, CRPPA, CSF1R, CSPP1, CSTB, CTBP1, CTC1, CTDP1, CTH, CTNNB1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUBN, CUL4B, CWF19L1, CYB5R3, CYC1, CYCS, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAB1, DAG1, DAO, DARS, DARS1, DARS2, DBH, DBT, DCAF10, DCAF17, DCC, DCDC2, DCPS, DCTN1, DCX, DCXR, DDC, DDHD1, DDHD2, DDX3X, DDX59, DEAF1, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHODH, DHPS, DHTKD1, DKC1, DLAT, DLD, DMPK, DMXL2, DNA2, DNAH1, DNAJB2, DNAJC12, DNAJC13, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNM1L, DNM2, DNMT1, DOCK3, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DRD2, DRD5, DYM, DYNC1H1, DYNC2H1, DYNC2LI1, DYRK1A, EARS2, EBF3, EBP, ECHS1, EEF2, EGR2, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELAC2, ELOVL1, ELOVL4, ELOVL5, ELP2, EMC1, EML1, ENO3, ENTPD1, EPG5, EPM2A, ERAL1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXOSC8, EXOSC9, EXT1, EXT2, EZH2, FA2H, FAH, FAR1, FARS2, FASTKD2, FAT2, FBP1, FBXL4, FBXO7, FDXR, FECH, FGD4, FGF12, FGF14, FGFR1, FGFR2, FH, FIG4, FITM2, FKRP, FKTN, FLAD1, FLNA, FLNC, FLVCR1, FMO3, FOLR1, FOXG1, FOXP2, FOXRED1, FRMD4A, FRRS1L, FTCD, FTL, FUCA1, FUS, FUT8, FXN, G6PC, G6PC3, GAA, GABRB1, GABRB2, GABRB3, GABRG2, GAD1, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GAN, GARS, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCLC, GDAP1, GDAP2, GEMIN4, GFAP, GFER, GFM1, GFM2, GFPT1, GIF, GIGYF2, GJA1, GJB1, GJC2, GK, GLA, GLB1, GLDC, GLI3, GLIS2, GLRA1, GLRB, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAL, GNAO1, GNB1, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GPAA1, GPD1, GPHN, GPR88, GRHPR, GRIA3, GRID2, GRIK2, GRIN1, GRIN2B, GRIN2D, GRM1, GRN, GSS, GTPBP2, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HACE1, HADH, HADHA, HADHB, HAMP, HARS1, HARS2, HCCS, HCFC1, HCN1, HEPACAM, HERC1, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HIBCH, HIKESHI, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNF1B, HNRNPA1, HNRNPA2B1, HNRNPH1, HNRNPH2, HOGA1, HPCA, HPD, HPDL, HPRT1, HPS1, HSD17B10, HSD17B4, HSD3B7, HSPD1, HSPG2, HTRA1, HTRA2, HTT, HYAL1, HYLS1, IARS2, IBA57, ICK, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, IMPDH2, INPP5E, INTS8, INVS, IQCB1, IRF2BPL, ISCA2, ISCU, ISG15, ISPD, ITM2B, ITPA, ITPR1, IVD, JAM3, KANK1, KARS, KARS1, KATNIP, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNJ6, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KIAA0586, KIDINS220, KIF1A, KIF1B, KIF1C, KIF2A, KIF5A, KIF5C, KIF7, KLC2, KMT2B, KY, KYNU, L1CAM, L2HGDH, LAGE3, LAMA2, LAMB2, LAMP2, LARGE1, LARS2, LBR, LCAT, LCT, LDHA, LDLR, LDLRAP1, LIAS, LIPA, LIPC, LIPT1, LIPT2, LMBRD1, LMNB1, LMNB2, LONP1, LPIN1, LPL, LRP4, LRPPRC, LRRK2, LRSAM1, LYRM7, LYST, LZTFL1, MAG, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAPKBP1, MAPT, MARS1, MARS2, MAT1A, MATR3, MBD5, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECP2, MECR, MED13L, MED17, MED25, MED27, MFF, MFN2, MFSD2A, MFSD8, MGAT2, MGME1, MICU1, MIPEP, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MOCS1, MOCS2, MOGS, MORC2, MPDU1, MPI, MPV17, MPZ, MR1, MRE11, MRPL3, MRPS22, MRPS34, MSMO1, MTFMT, MTHFR, MTO1, MTPAP, MTR, MTRFR, MTRR, MTTP, MUT, MVK, MYBPC1, MYH14, MYO7A, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAT8L, NAXE, NDE1, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEFH, NEFL, NEK1, NEK8, NEU1, NEXMIF, NF1, NF2, NFASC, NFU1, NGLY1, NHLRC1, NIPA1, NKX2-1, NKX6-2, NMNAT1, NOL3, NOP56, NOS3, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR4A2, NSDHL, NSUN2, NT5C2, NT5C3A, NUBPL, NUP62, OAT, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPLAH, OPTN, OSGEP, OTC, OXCT1, PAFAH1B1, PAH, PANK2, PARK7, PARN, PARS2, PAX6, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCK1, PCLO, PCNA, PCSK9, PDE10A, PDE2A, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDPR, PDSS1, PDSS2, PDX1, PDYN, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIBF1, PIEZO2, PIGA, PIGG, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGS, PIGT, PIGV, PIK3R5, PINK1, PITRM1, PITX3, PKD1, PKD2, PKHD1, PLA2G6, PLAA, PLCB1, PLD3, PLEKHG2, PLP1, PLXND1, PMM2, PMP22, PMPCA, PNKD, PNKP, PNP, PNPLA6, PNPLA8, PNPO, PNPT1, PODXL, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, POR, PPA2, PPOX, PPP1R15B, PPP2R2B, PPP3CA, PPT1, PQBP1, PRDM8, PRF1, PRICKLE1, PRICKLE2, PRKAG2, PRKCG, PRKN, PRKRA, PRNP, PRODH, PROK2, PROKR2, PRPH, PRPS1, PRRT2, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSMB8, PSPH, PTEN, PTF1A, PTPN23, PTRH2, PTRHD1, PTS, PUM1, PURA, PUS1, PYCR1, PYCR2, PYGL, PYGM, PYROXD1, QARS, QARS1, QDPR, RAB18, RAB27A, RAB39B, RAB3GAP1, RAD50, RANBP2, RARS1, RARS2, RBCK1, RBP4, REEP1, REEP2, RELN, RETREG1, RFT1, RHOBTB2, RLIM, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF168, RNF170, RNF216, RNU7-1, ROBO3, ROGDI, RORA, RPGRIP1L, RPIA, RPL10, RRM2B, RTN2, RTN4IP1, RTTN, RUBCN, RYR1, SACS, SAMD9L, SAMHD1, SAR1B, SARS1, SARS2, SBDS, SC5D, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SELENOI, SEPSECS, SERAC1, SETX, SFXN4, SGCE, SGPL1, SGSH, SH3TC2, SHMT2, SI, SIGMAR1, SIL1, SKIV2L, SLC12A3, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC30A9, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC44A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC6A1, SLC6A17, SLC6A19, SLC6A20, SLC6A3, SLC6A5, SLC6A8, SLC7A7, SLC7A9, SLC9A1, SLC9A6, SMAD4, SMC1A, SMG9, SMPD1, SMPD4, SNAP25, SNCA, SNX14, SOD1, SOX10, SOX2, SOX6, SPART, SPAST, SPATA5L1, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAMBP, STN1, STS, STT3A, STUB1, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SVBP, SYNE1, SYNJ1, SYT14, SYT2, TACO1, TAF1, TAF2, TALDO1, TANGO2, TARDBP, TARS2, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBK1, TCF4, TCN2, TCTEX1D2, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TELO2, TENM4, TERT, TFG, TFR2, TGM6, TH, THAP1, THG1L, THOC2, TIMM50, TIMM8A, TIMMDC1, TINF2, TK2, TMEM107, TMEM126B, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TMX2, TOE1, TOR1A, TP53RK, TPI1, TPK1, TPM2, TPP1, TRAF3IP1, TRAPPC11, TRAPPC12, TRAPPC4, TREM2, TREX1, TRIM32, TRIM37, TRMU, TRNT1, TRPC3, TRPM6, TRPM7, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC21B, TTC37, TTC8, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB, TUBB2B, TUBB3, TUBB4A, TUBG1, TUFM, TUSC3, TWNK, TXN2, TXNDC15, TYMP, TYROBP, UBA5, UBE3A, UBQLN2, UBR4, UBTF, UCHL1, UFC1, UGT1A1, UMOD, UMPS, UNC80, UPB1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROC1, UROD, UROS, USP18, VAC14, VAMP1, VAMP2, VAPB, VARS2, VCP, VIPAS39, VKORC1, VLDLR, VPS11, VPS13A, VPS13B, VPS13C, VPS13D, VPS16, VPS33B, VPS35, VPS37A, VPS41, VPS4A, VPS51, VPS53, VRK1, VWA3B, WARS2, WASHC5, WDPCP, WDR19, WDR26, WDR34, WDR35, WDR45, WDR62, WDR73, WDR81, WFS1, WNK1, WWOX, XDH, XK, XPA, XPNPEP3, XPR1, XRCC1, XRCC4, XYLT1, XYLT2, YARS2, YIF1B, YME1L1, YY1, ZC4H2, ZFYVE26, ZFYVE27, ZNF142, ZNF335, ZNF423, ZNHIT3, ZSWIM6, ARSL, CFAP410, G6PC1, GARS1, CBLIF, HJV, CILK1, MMUT, DYNLT2B, RXYLT1, DYNC2I2
Срок за изпълнение:
50 работни дни