Тест 52.
Аутизъм
Мутации в 1131 гени свързани с аутизъм
ABAT, ABCA10, ABCA13, ABCA7, ABCD1, ACE, ACHE, ACSL4, ACTB, ACTG1, ACTN4, ADA, ADAR, ADCY3, ADCY5, ADGRG1, ADK, ADNP, ADORA2A, ADORA3, ADRB2, ADSL, AFF2, AGAP1, AGAP2, AGBL4, AGMO, AGO1, AGTR2, AHDC1, AHI1, AIMP1, AKAP9, AKT3, ALDH18A1, ALDH5A1, ALDH7A1, ALG11, ALG13, ALX4, AMPD1, AMPD2, AMT, ANK2, ANK3, ANKRD11, ANKS1B, ANXA1, AP1S1, AP1S2, AP3B1, AP4B1, AP4M1, APBA2, APBB1, APH1A, AR, ARFGEF2, ARHGAP11B, ARHGAP32, ARHGAP5, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARNT2, ARX, ASAH1, ASAP2, ASCL1, ASH1L, ASMT, ASPM, ASTN2, ASXL1, ASXL3, ATP10A, ATP13A2, ATP1A1, ATP1A3, ATP2B2, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATR, ATRX, AUTS2, AVPR1A, AVPR1B, AZGP1, B3GALNT2, B4GAT1, B9D1, B9D2, BAZ2B, BBS4, BCAP31, BCAS1, BCKDK, BCL11A, BCOR, BCS1L, BDNF, BICDL1, BIRC6, BLOC1S3, BLOC1S6, BRAF, BRCA2, BRD4, BRWD3, BST1, BTAF1, C12orf57, C12orf65, C15orf62, C19orf12, C3orf58, C4B, CA2, CA6, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA2D1, CACNA2D3, CACNB2, CADM1, CADM2, CADPS2, CAMK2A, CAMK4, CAMTA1, CAPN12, CAPRIN1, CARD11, CASC4, CASK, CBS, CC2D1A, CC2D2A, CCDC40, CCDC88C, CCDC91, CCNG1, CCT4, CD276, CD38, CD99L2, CDC42BPB, CDH10, CDH11, CDH13, CDH15, CDH22, CDH8, CDH9, CDK5RAP2, CDKL5, CDON, CECR2, CELF4, CELF6, CENPF, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CGNL1, CHD1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRM3, CHRNA7, CHRNB3, CIB2, CIC, CLASP1, CLCN4, CLIC2, CLN8, CLTCL1, CMIP, CNGB3, CNKSR2, CNOT3, CNR1, CNTN3, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CNTNAP5, COASY, COL28A1, COL4A1, CPEB4, CPLANE1, CPT2, CRADD, CRBN, CREBBP, CRIPT, CRPPA, CSMD1, CSNK1E, CSPP1, CTC1, CTCF, CTNNA3, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL4B, CUL7, CUX1, CUX2, CX3CR1, CYB5R3, CYFIP1, CYLC2, CYP11B1, CYP27A1, DAGLA, DAPP1, DARS2, DCAF17, DCX, DDC, DDX3X, DDX53, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DIXDC1, DKC1, DLG1, DLG3, DLGAP1, DLGAP2, DLGAP3, DLX2, DLX6, DMXL2, DNAH10, DNAH17, DNAH3, DNER, DNM1, DNMT3A, DOCK1, DOCK4, DOCK8, DPP10, DPP4, DPP6, DPYD, DPYSL2, DPYSL3, DRD1, DRD2, DRD3, DSCAM, DST, DTNBP1, DUSP15, DVL3, DYDC1, DYDC2, DYM, DYNC1H1, DYRK1A, EDN3, EDNRB, EEF1A2, EFR3A, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3G, EIF4E, ELAVL2, ELAVL3, ELOVL2, ELOVL4, ELP4, EMSY, EMX2, EN2, EP300, EP400, EPB41L1, EPC2, EPHB2, EPPK1, ERBIN, ERG, ERMN, ESR2, ESRRB, ETFB, EXOC3, EXOC5, EXOC6, EXOC6B, EXOSC3, EXT1, FABP5, FAM126A, FAM47A, FAM92B, FAN1, FANCB, FAT1, FBN1, FBXO11, FBXO33, FBXO40, FCRL6, FEZF2, FGA, FGD1, FGFR2, FGFR3, FH, FHIT, FKRP, FKTN, FLNA, FLVCR1, FMR1, FOLR1, FOXC1, FOXG1, FOXL2, FOXP1, FOXP2, FRK, FTL, FTO, FTSJ1, G6PD, GABBR2, GABRA4, GABRB3, GABRG3, GAD1, GALNT13, GALNT14, GALNT8, GAMT, GAS2, GATM, GCK, GDA, GDI1, GDNF, GFAP, GGNBP2, GIGYF1, GIGYF2, GJC2, GK, GLI2, GLIS1, GLO1, GLRA2, GLRB, GMPPA, GMPPB, GNAO1, GNAS, GNB1L, GPC3, GPC4, GPC6, GPD2, GPHN, GPR37, GPR85, GPT2, GPX1, GRIA1, GRIA3, GRID1, GRID2, GRID2IP, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM5, GRM7, GSTM1, GTF2I, GUCY1A2, HBB, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HDLBP, HECTD4, HECW2, HEPACAM, HERC2, HIVEP3, HLA-A, HLA-B, HLA-DRB1, HLA-G, HMGN1, HNRNPH2, HNRNPU, HOMER1, HOXA1, HPRT1, HPS1, HPS4, HPS5, HPS6, HRAS, HS3ST5, HSD11B1, HSD17B10, HSPD1, HTR1B, HTR3A, HTR3C, HUWE1, HYDIN, ICA1, IDS, IER3IP1, IFIH1, IGBP1, IGF1, IGF1R, IL1R2, IL1RAPL1, IL1RAPL2, ILF2, IMMP2L, INPP1, INPP5E, INTS6, INVS, IQGAP3, IQSEC2, IRF2BPL, IRX5, ITGA7, ITGB3, ITPR1, JAG1, JARID2, JMJD1C, KANK1, KAT2B, KAT6A, KAT6B, KATNAL1, KATNAL2, KATNB1, KCNB1, KCNC1, KCNC3, KCND2, KCND3, KCNJ10, KCNJ15, KCNK7, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCTD13, KDM4B, KDM4C, KDM5B, KDM5C, KDM6A, KDM6B, KHDRBS2, KIAA1586, KIF11, KIF13B, KIF14, KIF1A, KIF5C, KIF7, KIRREL3, KLF16, KMT2A, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KRAS, KRR1, KRT26, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LEO1, LEP, LILRB2, LIN7B, LINS1, LMX1B, LRBA, LRFN2, LRFN5, LRP2, LRRC1, LRRC4, LZTR1, LZTS2, MACROD2, MAGEL2, MAGT1, MAN1B1, MAOA, MAOB, MAPK3, MARK1, MBD1, MBD3, MBD4, MBD5, MBD6, MBOAT7, MBTPS2, MCCC2, MCM4, MCM6, MCPH1, MDGA2, MECP2, MED12, MED13, MED13L, MED17, MED23, MEF2C, MEGF10, MEGF11, MEIS2, MET, MFRP, MFSD2A, MGAT2, MIB1, MID1, MIR137, MITF, MKKS, MKL2, MKS1, MLC1, MNT, MPDZ, MPP6, MSANTD2, MSMO1, MSR1, MTF1, MTHFR, MTM1, MTOR, MTR, MUC12, MUC4, MYCN, MYH10, MYH4, MYO16, MYO1E, MYO5A, MYO5C, MYO9B, MYT1L, NAA10, NAA15, NAALADL2, NACC1, NAGA, NALCN, NAV2, NBEA, NCKAP1, NCKAP5, NCOR1, NDE1, NDP, NDST1, NDUFA1, NDUFA5, NECTIN1, NEO1, NEXMIF, NF1, NFIA, NFIB, NFIX, NHEJ1, NHS, NINL, NIPA1, NIPA2, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NLGN4Y, NOTCH2, NOTCH2NL, NPAS2, NPHP1, NPHP3, NR1D1, NR2F1, NR3C2, NR4A2, NRCAM, NRP2, NRXN1, NRXN2, NRXN3, NSD1, NSDHL, NSMCE3, NSUN2, NTNG1, NTRK1, NTRK3, NUAK1, NUDCD2, NUP133, NXF5, NXPH1, OCLN, OCRL, ODF3L2, OFD1, OPHN1, OR1C1, OR2M4, OR2T10, OR52M1, ORC1, OTC, OTUD7A, OTX1, OXT, OXTR, P2RX5, P4HA2, PAFAH1B1, PAH, PAK2, PAK3, PANK2, PARD3B, PATJ, PAX3, PAX5, PAX6, PCDH10, PCDH11X, PCDH15, PCDH19, PCDH9, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCNT, PDCD1, PDE1C, PDE6D, PDHA1, PER1, PER2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PHB, PHC1, PHF2, PHF3, PHF6, PHF8, PHIP, PHRF1, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3CG, PIK3R2, PITX1, PITX2, PLA2G6, PLAUR, PLCB1, PLK4, PLN, PLP1, PLXNA3, PLXNA4, PLXNB1, PNKP, PNPLA7, POGZ, POLA2, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PORCN, POT1, PPFIA1, PPM1D, PPOX, PPP1R1B, PPP2R1B, PPP2R5D, PPT1, PQBP1, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKDC, PRKN, PRODH, PRPF39, PRPS1, PRSS12, PRUNE2, PSD3, PTBP2, PTCH1, PTCHD1, PTEN, PTGS2, PTK7, PTPN11, PTPRB, PTPRC, PTPRT, PTS, PURA, PXDN, PYCR1, PYCR2, PYHIN1, QARS1, QRICH1, RAB11FIP5, RAB18, RAB2A, RAB39B, RAB3GAP1, RAB3GAP2, RAB43, RAD21, RAD21L1, RAI1, RANBP17, RAPGEF4, RARS2, RASSF5, RBBP8, RBFOX1, RBM10, RBM27, REEP3, RELN, RERE, RET, RFX3, RGS7, RHOXF1, RIMS1, RIMS3, RIT2, RNASEH2A, RNASEH2B, RNASEH2C, RNF135, RNF38, ROBO2, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA2, RPS6KA3, RXYLT1, SAE1, SALL1, SAMD11, SAMHD1, SASH1, SASS6, SATB2, SBF1, SCFD2, SCN1A, SCN2A, SCN4A, SCN8A, SCN9A, SCO2, SCP2, SDC2, SDCCAG8, SDHA, SEMA5A, SEPSECS, SERPINE1, SETBP1, SETD1B, SETD2, SETD5, SETDB1, SETDB2, SEZ6L2, SGCA, SGSM3, SHANK1, SHANK2, SHANK3, SHH, SHOX, SHROOM4, SIL1, SIN3A, SIX3, SLC12A5, SLC16A2, SLC1A1, SLC22A15, SLC22A9, SLC24A2, SLC25A12, SLC25A15, SLC25A19, SLC25A27, SLC25A39, SLC27A4, SLC29A4, SLC2A1, SLC35A2, SLC35A3, SLC35B1, SLC38A10, SLC4A10, SLC4A4, SLC6A1, SLC6A3, SLC6A4, SLC6A8, SLC7A3, SLC7A5, SLC7A7, SLC9A6, SLC9A9, SLCO1B3, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMG6, SMPD1, SMS, SNAI2, SNAP25, SNAP29, SND1, SNIP1, SNTG2, SOBP, SOD1, SOX10, SOX2, SOX3, SPARCL1, SPAST, SPP2, SRCAP, SRD5A3, SRGAP3, SRSF11, SSPO, SSRP1, ST3GAL3, ST7, ST8SIA2, STAMBP, STIL, STK39, STRA6, STX1A, STXBP1, STXBP5, STYK1, SYAP1, SYN1, SYN2, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYP, SYT17, TAF1C, TAF2, TAF6, TANC2, TAOK2, TBC1D20, TBC1D24, TBC1D31, TBC1D5, TBCE, TBL1X, TBL1XR1, TBR1, TBX1, TCF20, TCF4, TCF7L2, TCTN1, TCTN2, TCTN3, TDO2, TECR, TECTA, TERB2, TERF2, TET2, TFAP2A, TGIF1, THBS1, THRA, TIMM8A, TINF2, TLK2, TM4SF19, TMCO1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMLHE, TMPRSS9, TNRC6B, TOP3B, TPO, TRAF7, TRAPPC9, TREX1, TRIM33, TRIO, TRIP12, TRMT10A, TRPC6, TRPM1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSHZ3, TSPAN17, TSPAN7, TSPOAP1, TTC21B, TTC25, TTI2, TTN, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBGCP4, TUBGCP5, TUBGCP6, TUSC3, TYR, UBE2A, UBE2H, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC13A, UNC79, UNC80, UPF3B, USH2A, USP15, USP45, USP7, USP9X, USP9Y, VASH1, VDR, VIL1, VLDLR, VPS13B, VPS53, VRK1, VSIG4, WAC, WDFY3, WDR45, WDR62, WDR81, WNK3, WNT1, WNT5A, WWOX, XPO1, YEATS2, YTHDC2, YWHAE, ZBTB16, ZBTB18, ZBTB20, ZC3H4, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZIC3, ZMYND11, ZNF18, ZNF292, ZNF335, ZNF385B, ZNF41, ZNF423, ZNF462, ZNF517, ZNF548, ZNF559, ZNF626, ZNF711, ZNF713, ZNF774, ZNF804A, ZNF81, ZNF827, ZWILCH
Срок за изпълнение:
50 работни дни