Microcefalia

Lista de Genes
AAAS, AARS1, ABCA2, ABCC8, ACADSB, ACBD5, ACD, ACE, ACO2, ACSF3, ACSL4, ACTB, ACTG1, ACTG2, ACTL6B, ADA2, ADAR, ADARB1, ADAT3, ADD3, ADGRG1, ADNP, ADPRS, ADSL, AFF4, AGA, AGPS, AGT, AGTPBP1, AGTR1, AHCY, AHDC1, AHSG, AIMP1, AIMP2, AKT3, ALDH18A1, ALDH3A2, ALDH6A1, ALG1, ALG11, ALG12, ALG13, ALG3, ALG9, ALKBH8, ALPL, ALS2, ALX4, AMPD2, ANK1, ANKLE2, ANKRD11, AP1S2, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, ARCN1, ARF1, ARFGEF2, ARHGAP31, ARHGEF2, ARID1A, ARID1B, ARID2, ARNT2, ARSL, ARV1, ARX, ASH1L, ASNS, ASPM, ASXL1, ASXL3, ATAD3A, ATP5F1A, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATPAF2, ATR, ATRIP, ATRX, AUH, AUTS2
B3GALNT2, B3GLCT, B4GAT1, B9D1, B9D2, BCAP31, BCL11A, BCOR, BCORL1, BCR, BCS1L, BLM, BMP15, BMP4, BNC1, BPTF, BRAT1, BRCA1, BRCA2, BRF1, BRIP1, BRPF1, BTG2, BUB1, BUB1B
C12orf4, C2CD3, CACNA1A, CACNA1B, CACNA1G, CACNG2, CAMK2A, CAMK2B, CARS1, CARS2, CASK, CAV3, CC2D1A, CC2D2A, CCDC47, CCDC88A, CD96, CDC42, CDC45, CDC6, CDCA7, CDH11, CDH15, CDK10, CDK13, CDK19, CDK5, CDK5RAP2, CDK6, CDKL5, CDON, CDT1, CENPE, CENPF, CENPJ, CENPT, CEP135, CEP152, CEP290, CEP55, CEP57, CEP63, CERT1, CHAMP1, CHD7, CHKB, CHMP1A, CHN1, CHRNA7, CHRNG, CHUK, CIC, CIT, CKAP2L, CLCN4, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT1, CNTN2, CNTNAP1, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL4A1, COMT, COPB2, COQ9, COX15, COX7B, COX8A, CPLX1, CPT2, CRADD, CRBN, CREBBP, CRIPT, CRPPA, CSNK2A1, CSNK2B, CSPP1, CTBP1, CTCF, CTNNA2, CTNNB1, CTSD, CTU2, CUL4B, CUX1, CYB5A, CYB5R3, CYFIP2, CYP26C1
D2HGDH, DAG1, DALRD3, DCHS1, DCPS, DCTN1, DCX, DDB2, DDX11, DDX3X, DDX59, DDX6, DEAF1, DEGS1, DENND5A, DGCR2, DGCR6, DGCR8, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHTKD1, DHX30, DHX37, DIAPH1, DISC1, DKC1, DLAT, DLD, DLL1, DLL3, DMXL2, DNA2, DNAJC21, DNM1, DNM1L, DNMT3A, DOCK3, DOCK6, DOCK8, DOLK, DONSON, DPAGT1, DPF2, DPM1, DPM2, DPP6, DPYD, DSTYK, DYM, DYNC1H1, DYNC1I2, DYRK1A
EBF3, EDC3, EEF1A2, EFEMP2, EFL1, EFNB1, EFTUD2, EGF, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, ELAC2, ELN, ELOVL4, EMC1, EMG1, ENTPD1, EOMES, EP300, EPB41L1, EPCAM, EPG5, EPRS1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ESCO2, ESS2, EXOC8, EXOSC3, EXOSC9, EXT1, EXT2, EXTL3
FAM20B, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FARSA, FARSB, FAT4, FBLN5, FBN1, FBXL3, FBXL4, FBXO11, FBXO31, FBXW11, FCN3, FDXR, FGF12, FGF8, FGFR1, FGFR3, FGFRL1, FH, FIG4, FKRP, FKTN, FLCN, FLVCR2, FMN2, FOXG1, FOXRED1, FRAS1, FREM1, FREM2, FRMD4A, FRRS1L, FSHR, FTO, FUS, FUT8
G6PC3, GABBR2, GABRA2, GABRA5, GABRB2, GABRD, GABRG2, GAD1, GALNT2, GATA1, GATA4, GATA6, GBA, GEMIN4, GFM1, GFM2, GINS1, GJA1, GJA5, GJA8, GJB3, GJB4, GLE1, GLI2, GLS, GLYCTK, GMNN, GMPPA, GMPPB, GNAO1, GNB1, GNPAT, GORAB, GOT2, GP1BB, GPATCH3, GPT2, GRIA2, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM7, GTF2E2, GTF2H5, GTPBP2
HAAO, HACE1, HBA1, HBA2, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HES7, HHAT, HIVEP2, HMGA2, HMGB3, HMGCL, HNMT, HNRNPH2, HNRNPK, HNRNPU, HPDL, HSD17B10, HSPD1, HSPG2, HTRA2, HUWE1
IARS1, IBA57, IER3IP1, IFIH1, IFT140, IFT74, IGF1, IGF1R, INPP5K, INSR, INTS8, IQSEC1, IQSEC2, ISCA1, ITGA3, ITGB6, ITPA
JAM2, JAM3
KANSL1, KAT6A, KAT6B, KATNB1, KCNA1, KCNA2, KCNA4, KCNB1, KCNH1, KCNJ11, KCNJ2, KCNJ6, KCNMA1, KCNQ5, KCNT1, KCTD7, KDM5B, KDM5C, KDM6A, KDSR, KIF11, KIF14, KIF1A, KIF1C, KIF2A, KIF5A, KIF5C, KIFBP, KIT, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KNL1, KYNU
L1CAM, LAGE3, LARGE1, LARP7, LARS1, LAS1L, LBR, LDHD, LEMD3, LETM1, LFNG, LIAS, LIG4, LINGO1, LINS1, LIPT2, LMAN2L, LMNA, LMX1B, LONP1, LRP5, LRPPRC, LSS, LTC4S
MAB21L1, MACF1, MAD2L2, MAFB, MAN1B1, MAP1B, MAP4, MAPK1, MAPK8IP3, MAPRE2, MASP1, MBD5, MBOAT7, MBTPS2, MCM4, MCM5, MCOLN1, MCPH1, MDH1, MECP2, MED12L, MED13, MED17, MED23, MED25, MEIS2, MESD, MESP2, METTL23, METTL5, MFF, MFSD2A, MGAT2, MGME1, MICOS13, MICU1, MID1, MIPEP, MKS1, MMACHC, MOCS1, MOCS2, MORC2, MPC1, MPDU1, MPLKIP, MPV17, MRPS22, MRPS25, MRPS28, MRPS34, MSMO1, MTFMT, MTHFR, MTHFS, MT-ND1, MT-ND2, MTR, MTRR, MVK, MYCN, MYH3, MYMK, MYO18B, MYORG, MYSM1, MYT1L
NAA10, NACC1, NADK2, NAGS, NALCN, NANS, NARS2, NAT8L, NBN, NCAPD2, NCAPD3, NCAPG2, NCAPH, NDE1, NDP, NDST1, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEK9, NEUROD2, NEXMIF, NF1, NFASC, NFIX, NGLY1, NHEJ1, NHP2, NIN, NIPBL, NKX2-1, NODAL, NOP10, NR5A1, NRDC, NSD1, NSD2, NSDHL, NSMCE2, NSUN2, NTNG2, NTRK2, NUBPL, NUP107, NUP133, NUP188, NUP214, NUP37, NUS1
OCA2, OCLN, OFD1, OGT, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTUD6B
P4HTM, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PARN, PARS2, PAX3, PAX6, PAX7, PBX1, PCDH12, PCGF2, PCLO, PCNA, PCNT, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PHACTR1, PHC1, PHF6, PHGDH, PI4KA, PIEZO2, PIGA, PIGC, PIGH, PIGO, PIGP, PIGQ, PIGS, PIGV, PIGY, PISD, PLAA, PLEKHG2, PLK4, PLP1, PLPBP, PMM2, PMPCB, PNKP, PNPO, POC1A, POGZ, POLA1, POLE, POLG, POLR1A, POLR1B, POLR2A, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PORCN, PPP1R12A, PPP1R15B, PPP2CA, PPP2R1A, PPP3CA, PPT1, PQBP1, PRDM16, PRDX1, PRKD1, PRKDC, PRMT7, PRSS12, PRUNE1, PSAT1, PSMC3IP, PSMD12, PSPH, PTCH1, PTDSS1, PTF1A, PTPN23, PTRH2, PTS, PUF60, PURA, PUS1, PUS3, PUS7, PYCR1, PYCR2
QARS1, QDPR, QRICH1
RAB11B, RAB18, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAD50, RAD51, RAD51C, RAI1, RARS1, RARS2, RB1, RBBP8, RBM28, RBPJ, RBSN, RELN, REN, RERE, RFT1, RFWD3, RHOBTB2, RIPK4, RIPPLY2, RLIM, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF168, RNPC3, RPGRIP1, RPGRIP1L, RPL10, RPL11, RPL15, RPL18, RPL26, RPL27, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS19, RPS23, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RSPRY1, RSRC1, RTEL1, RTTN, RUSC2, RXYLT1
SALL1, SALL4, SAMD9L, SAMHD1, SARS1, SASS6, SATB2, SBF1, SC5D, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCYL2, SELENOI, SEMA3E, SEPSECS, SERAC1, SET, SETD5, SF3B4, SGPL1, SHANK3, SHH, SHROOM4, SIGMAR1, SIK1, SIL1, SIN3A, SIX3, SIX6, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC18A2, SLC19A2, SLC1A2, SLC1A4, SLC20A2, SLC25A1, SLC25A19, SLC25A20, SLC25A24, SLC2A1, SLC30A10, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A14, SLC45A1, SLC5A6, SLC6A8, SLC6A9, SLC9A1, SLC9A6, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMG9, SMPD4, SNAI2, SNAP29, SNRPB, SNRPN, SOX11, SOX2, SOX4, SP110, SPART, SPATA5, SPG11, SPOP, SPR, SPTAN1, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAC3, STAG1, STAG2, STAMBP, STAT5B, STIL, STT3A, STT3B, STXBP1, SUCLA2, SUFU, SUMF1, SVBP, SYNGAP1, SYNJ1, SZT2
TAF1, TAF13, TAF2, TAF6, TANC2, TANGO2, TAPT1, TARS1, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBX1, TBX4, TBX6, TCF20, TCF4, TCTN2, TCTN3, TDP2, TECPR2, TECR, TELO2, TERT, TET3, TFAP2A, TGIF1, THOC2, THOC6, TIMMDC1, TINF2, TLK2, TMCO1, TMEM107, TMEM126B, TMEM165, TMEM216, TMEM231, TMEM260, TMEM67, TMEM70, TMEM87B, TMTC3, TMX2, TNIK, TOE1, TOP3A, TOR1A, TP53, TP53RK, TPRKB, TRAIP, TRAK1, TRAPPC11, TRAPPC12, TRAPPC14, TRAPPC2L, TRAPPC4, TRAPPC6B, TRAPPC9, TREX1, TRIO, TRIP13, TRIT1, TRMT1, TRMT10A, TRPS1, TRRAP, TSEN15, TSEN2, TSEN34, TSEN54, TSR2, TTI2, TUBA1A, TUBA8, TUBB, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TUFM, TUSC3, TXN2
UBA5, UBE2T, UBE3A, UBE3B, UBR1, UBTF, UFC1, UFM1, UGDH, UGP2, UNC80, UPB1, USP18, USP7
VAC14, VARS1, VARS2, VIPAS39, VPS11, VPS13B, VPS13D, VPS33B, VPS37A, VPS51, VPS53
WASHC4, WDFY3, WDPCP, WDR26, WDR37, WDR4, WDR45B, WDR47, WDR62, WDR73, WT1, WWOX
XPA, XPC, XPR1, XRCC2, XRCC4, XYLT1
YARS2, YME1L1, YWHAG
ZBTB11, ZBTB16, ZBTB18, ZC3H14, ZC4H2, ZEB2, ZIC1, ZIC2, ZMIZ1, ZMYND11, ZNF148, ZNF335, ZNHIT3, ZSWIM6
90 dias
2mL de sangue em tubo com EDTA