Neurologia e neuropediatria

Incapacidade Intelectual

Lista de Genes
AAAS, AARS1, AASS, ABCC6, ABCC9, ABCD1, ABCD4, ABHD5, ACAD9, ACADM, ACADS, ACAT1, ACO2, ACOX1, ACSL4, ACTB, ACTG1, ACTL6A, ACY1, ADAR, ADGRG1, ADK, ADNP, ADRA2B, ADSL, AFF2, AFF4, AFG3L2, AGA, AGL, AGPS, AGTR2, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AKR1C2, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALS2, ALX3, ALX4, AMER1, AMPD2, AMT, ANK3, ANKH, ANKRD11, AP1S1, AP1S2, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARSA, ARSB, ARSL, ARX, ASAH1, ASL, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD3A, ATIC, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATP6V0A2, ATP6V1B2, ATP7A, ATP8A2, ATR, ATRX, AUH, AUTS2, AVPR2
B3GALNT2, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCL11A, BCOR, BCS1L, BIN1, BLM, BLTP1, BMP4, BOLA3, BPNT2, BRAF, BRAT1, BRIP1, BRPF1, BRWD3, BSCL2, BSND, BTD, BUB1B
C12orf57, C19ORF12, C2CD3, CA2, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1H, CACNB4, CACNG2, CAMK2A, CAMK2B, CAMTA1, CANT1, CARS2, CASK, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC22, CCDC78, CCDC8, CCDC88C, CCND2, CDC45, CDC6, CDH11, CDH15, CDH3, CDK13, CDK5RAP2, CDKL5, CDKN1C, CDON, CDT1, CENPF, CENPJ, CEP104, CEP135, CEP152, CEP290, CEP41, CEP57, CEP63, CEP83, CERT1, CFAP418, CHAMP1, CHD2, CHD4, CHD7, CHD8, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CHSY1, CIC, CISD2, CIT, CKAP2L, CLCN2, CLCN4, CLCN5, CLCN7, CLCNKA, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLTC, CNKSR2, CNNM2, CNTNAP2, COA8, COASY, COG1, COG4, COG5, COG7, COG8, COL11A1, COL18A1, COL1A1, COL2A1, COL4A1, COL4A2, COL9A1, COLEC11, COQ4, COQ8A, COQ9, COX10, COX14, COX15, COX6B1, COX7B, CP, CPA6, CPLANE1, CPS1, CRADD, CRB2, CRBN, CREBBP, CRPPA, CSF1R, CSNK2A1, CSPP1, CSTB, CTC1, CTCF, CTDP1, CTNNB1, CTSA, CTSD, CTSF, CUL4B, CUL7, CYB5R3, CYC1, CYP1B1, CYP27A1, CYP2U1
D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCC, DCHS1, DCX, DDC, DDHD2, DDOST, DDX11, DDX3X, DEAF1, DENND5A, DEPDC5, DHCR24, DHCR7, DHFR, DHTKD1, DHX30, DIAPH1, DIP2B, DIS3L2, DKC1, DLAT, DLD, DLG3, DMD, DMXL2, DNAJC12, DNAJC19, DNM1, DNMT3A, DNMT3B, DOCK6, DOCK7, DOCK8, DOLK, DPAGT1, DPF2, DPM1, DPM3, DPP6, DPYD, DYM, DYNC1H1, DYRK1A
EBF3, EBP, EDA, EDNRA, EDNRB, EED, EEF1A2, EFHC1, EFNB1, EFTUD2, EHMT1, EIF2AK3, EIF2S3, ELAC2, ELOVL4, ELP2, EML1, EMX2, EP300, EPB41L1, EPG5, EPM2A, EPRS1, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERMARD, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXT2, EXTL3, EYA1, EZH2
FAAH2, FAH, FAM111A, FAM126A, FAM20C, FANCB, FANCG, FAR1, FAT4, FBN1, FBN2, FBXL4, FGD1, FGF12, FGF14, FGFR1, FGFR2, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXC1, FOXE3, FOXG1, FOXP1, FOXP2, FOXRED1, FRAS1, FREM2, FRMPD4, FTCD, FTL, FTO, FTSJ1, FUCA1
GAA, GABRA1, GABRB3, GABRG2, GAD1, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA1, GCDH, GCH1, GCSH, GDI1, GFAP, GFER, GFM1, GHR, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLIS3, GLRA1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAO1, GNAS, GNB1, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GPAA1, GPC3, GPHN, GPSM2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GSPT2, GSS, GTF2H5, GTPBP3, GUSB
H1-4, HACE1, HADH, HADHA, HAX1, HCCS, HCFC1, HCN1, HDAC4, HDAC6, HDAC8, HECW2, HEPACAM, HERC1, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIVEP2, HLCS, HMGB3, HNRNPH2, HNRNPK, HNRNPU, HOXA1, HOXC13, HPD, HPGD, HPRT1, HPS1, HRAS, HSD17B10, HSD17B4, HSPD1, HSPG2, HTRA2, HTT, HUWE1, HYLS1
IARS1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT122, IFT172, IFT43, IGBP1, IGF1, IGF1R, IGF2, IKBKG, IL11RA, IL1RAPL1, INPP5E, INPP5K, IQSEC2, IRF6, IRX5, ITGA7, ITPR1, IVD
JAG1, JAM3
KANSL1, KARS1, KAT6A, KAT6B, KCNA2, KCNB1, KCNC1, KCNC3, KCNH1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNMA1, KCNQ2, KCNQ5, KCNT1, KCTD1, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KIAA0586, KIDINS220, KIF11, KIF1A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIFBP, KIRREL3, KLHL15, KMT2A, KMT2C, KMT2D, KMT2E, KNL1, KPTN, KRAS, KRIT1
L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP7, LAS1L, LBR, LGI1, LGI4, LHX3, LIG4, LINS1, LMBRD1, LONP1, LRP2, LRP5, LRPPRC, LYST, LZTR1
MAB21L2, MAF, MAGEL2, MAGI2, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MARS2, MASP1, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MDH2, MECP2, MECR, MED12, MED13L, MED17, MED23, MEF2C, MEGF8, MFF, MFSD2A, MFSD8, MGAT2, MGP, MICU1, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPI, MPLKIP, MPV17, MPZ, MRPS22, MSMO1, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTO1, MTOR, MTR, MTRFR, MTRR, MVK, MYCN, MYO5A, MYO7A, MYT1L
NAA10, NACC1, NAGA, NAGLU, NALCN, NANS, NBN, NDE1, NDN, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NECTIN1, NEDD4L, NEU1, NEXMIF, NF1, NFIA, NFIX, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NIPBL, NKX2-1, NLGN3, NLGN4X, NONO, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR2F1, NRAS, NRXN1, NRXN2, NSD1, NSDHL, NSUN2, NT5C2, NTRK1, NUBPL, NUP107, NUP62
OBSL1, OCLN, OCRL, OFD1, OGT, OPA3, OPHN1, ORC1, ORC4, ORC6, OTC, OTUD5, OTUD6B, OTX2
PACS1, PAFAH1B1, PAH, PAK3, PANK2, PARK7, PARN, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCGF2, PCNT, PDCD10, PDE10A, PDE4D, PDHA1, PDHX, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PHC1, PHF6, PHF8, PHGDH, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PIK3CA, PIK3R2, PINK1, PITX2, PITX3, PLA2G6, PLAA, PLCB1, PLCE1, PLK4, PLP1, PLPBP, PMM2, PNKP, PNPLA6, PNPT1, POGZ, POLG, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPOX, PPP1CB, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRICKLE1, PRKAR1A, PRKD1, PRMT7, PRODH, PRPS1, PRRT2, PRSS12, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTH1R, PTPN11, PTS, PUF60, PURA, PUS1, PYCR1, PYCR2, PYGL
QARS1, QDPR
RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAC1, RAD21, RAF1, RAI1, RANBP2, RAPSN, RARB, RARS2, RBBP8, RBM10, RBPJ, RECQL4, RELN, RERE, RFT1, RFX6, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF135, ROGDI, ROR2, RPGRIP1L, RPL10, RPS23, RPS6KA3, RRM2B, RTEL1, RTN4IP1, RTTN, RUNX2, RXYLT1
SACS, SAMD9, SAMHD1, SATB2, SC5D, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SERAC1, SETBP1, SETD5, SETX, SGPL1, SGSH, SHANK1, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIK1, SIL1, SIN3A, SIX3, SKI, SKIC3, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC2A1, SLC2A2, SLC30A9, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC39A14, SLC39A8, SLC45A1, SLC46A1, SLC4A4, SLC5A5, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC9A6, SLC9A9, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMCHD1, SMOC1, SMPD1, SMS, SNAP29, SNIP1, SNRPB, SNRPN, SNX14, SOBP, SON, SOS1, SOX10, SOX11, SOX2, SOX3, SOX4, SOX5, SOX9, SPART, SPAST, SPATA5, SPG11, SPR, SPRED1, SPTAN1, SPTBN2, SRCAP, SRD5A3, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAMBP, STIL, STRA6, STRADA, STT3A, STT3B, STX11, STX1B, STXBP1, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SYT14, SZT2
TACO1, TAF1, TAF13, TAF2, TAFAZZIN, TANGO2, TAT, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TCF12, TCF4, TCN2, TCTN1, TCTN2, TCTN3, TECPR2, TECR, TFAP2A, TFAP2B, TGIF1, TH, THAP1, THOC2, THOC6, THRA, THRB, TIMM8A, TINF2, TK2, TM4SF20, TMCO1, TMEM126B, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TMEM70, TMLHE, TMTC3, TOE1, TP63, TPK1, TPP1, TRAPPC9, TREX1, TRIM32, TRIM37, TRIO, TRIP12, TRIT1, TRMT10A, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTC19, TTC8, TTI2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TWIST2
UBA5, UBE2A, UBE3A, UBE3B, UBR1, UBTF, UMPS, UNC80, UPB1, UPF3B, UQCRB, UQCRQ, UROC1, USP27X, USP9X
VAMP1, VLDLR, VPS13B, VRK1, VSX2
WAC, WASHC5, WDPCP, WDR13, WDR19, WDR35, WDR45, WDR45B, WDR62, WDR73, WDR81, WNT5A, WRAP53, WWOX
XPNPEP3, XRCC4
YAP1, YY1
ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZC3H14, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZFP57, ZFYVE26, ZIC1, ZIC2, ZMYND11, ZNF148, ZNF335, ZNF41, ZNF674, ZNF711, ZNF81, ZSWIM6
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída