55372 – Panel virtuel ciblé de gènes associés aux syndromes polymalformatifs analysé à partir des données de séquençage de l’exome (interprétation seulement) (RQDM)
Génétique - Génétique moléculaire
Gènes
AAAS, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA2, ABCB11, ABCB4, ABCB7, ABCC6, ABCC9, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD16A, ABHD5, ABL1, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACE, ACO2, ACOX1, ACP5, ACSF3, ACSL4, ACTA2, ACTB, ACTC1, ACTG1, ACTG2, ACTL6A, ACTL6B, ACVR1, ACVR2B, ACY1, ADA, ADAM22, ADAMTS10, ADAMTS17, ADAMTSL2, ADAR, ADARB1, ADAT3, ADD3, ADGRG1, ADGRG6, ADK, ADNP, ADSL, AFF2, AFF4, AFG3L2, AGA, AGK, AGL, AGO1, AGO2, AGPS, AGT, AGTR1, AGXT, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AIPL1, AIRE, AK2, AKR1D1, AKT1, AKT3, ALAD, ALAS2, ALDH18A1, ALDH1A3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMER1, AMN, AMPD2, AMT, ANAPC1, ANK2, ANKH, ANKRD11, ANKRD17, ANKS6, ANO10, ANO5, ANOS1, ANTXR1, ANTXR2, AP1G1, AP1S1, AP1S2, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOA1, APOA5, APOB, APOC2, APOE, APRT, APTX, AR, ARCN1, ARF1, ARFGEF1, ARFGEF2, ARG1, ARHGAP29, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARSA, ARSB, ARSL, ARV1, ARX, ASAH1, ASCC1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATIC, ATM, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP5F1D, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1B1, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATP8B1, ATP9A, ATPAF2, ATR, ATRX, AUH, AUTS2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAS3, BCAT2, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCS1L, BFSP2, BGN, BHLHA9, BICD2, BICRA, BIN1, BLM, BMP1, BMP2, BMP4, BMPER, BMPR1B, BNC2, BOLA3, BPNT2, BPTF, BRAF, BRAT1, BRCA1, BRCA2, BRD4, BRF1, BRIP1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BUB1B, C12orf4, C12orf57, C19orf12, C1QBP, C2CD3, CA2, CA5A, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1I, CAD, CAMK2A, CAMK2B, CAMK4, CAMTA1, CANT1, CAPN15, CARS1, CARS2, CASK, CASR, CAT, CBL, CBLIF, CBS, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC115, CCDC22, CCDC39, CCDC40, CCDC47, CCDC65, CCDC8, CCDC88C, CCN6, CCND2, CCNO, CCNQ, CDC42, CDC45, CDC6, CDH1, CDH11, CDH2, CDH23, CDH3, CDK10, CDK13, CDK19, CDK5RAP2, CDK8, CDKL5, CDKN1C, CDON, CDT1, CDX1, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP55, CEP57, CEP83, CEP85L, CERT1, CFAP300, CFAP410, CFAP418, CFAP53, CFC1, CHAMP1, CHCHD10, CHD2, CHD3, CHD4, CHD5, CHD7, CHD8, CHKB, CHM, CHMP1A, CHRDL1, CHRNA3, CHRNA4, CHRNG, CHST14, CHST3, CHST6, CHSY1, CHUK, CIB2, CIC, CILK1, CISD2, CIT, CKAP2L, CLCN3, CLCN4, CLCN5, CLCN7, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT1, CNOT2, CNOT3, CNTNAP1, CNTNAP2, COA6, COA7, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL18A1, COL1A1, COL1A2, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL6A1, COL6A3, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COPB2, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CPE, CPLANE1, CPOX, CPS1, CPT1A, CPT2, CRADD, CRB1, CRB2, CREB3L1, CREBBP, CRPPA, CRTAP, CRX, CRYAA, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CSDE1, CSF1R, CSGALNACT1, CSNK1G1, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTH, CTNNA2, CTNNB1, CTNND1, CTNS, CTSA, CTSC, CTSD, CTSK, CTU2, CUBN, CUL4B, CUL7, CUX1, CUX2, CWC27, CWF19L1, CYB5R3, CYC1, CYFIP2, CYP1B1, CYP27A1, CYP27B1, CYP2R1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBH, DBT, DCAF17, DCHS1, DCPS, DCX, DCXR, DDB1, DDB2, DDC, DDHD1, DDHD2, DDOST, DDR2, DDX11, DDX3X, DDX59, DDX6, DEAF1, DEGS1, DEPDC5, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHODH, DHPS, DHTKD1, DHX30, DHX37, DIAPH1, DIS3L2, DKC1, DLAT, DLD, DLG3, DLG4, DLG5, DLL1, DLL3, DLL4, DLX3, DLX5, DMD, DMP1, DMPK, DMXL2, DNA2, DNAAF11, DNAAF3, DNAAF4, DNAH9, DNAJC12, DNAJC19, DNAJC5, DNM1, DNM1L, DNM2, DNMT3A, DNMT3B, DOCK3, DOCK6, DOCK7, DOCK8, DOLK, DPAGT1, DPF2, DPH1, DPM1, DPM2, DPM3, DPP6, DPYD, DPYS, DPYSL5, DSPP, DSTYK, DVL1, DVL3, DYM, DYNC1H1, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DYRK1A, EARS2, EBF3, EBP, ECEL1, ECHS1, EDA, EDAR, EDNRA, EDNRB, EED, EEF1A2, EFNB1, EFTUD2, EGR2, EHBP1L1, EHMT1, EIF2AK2, EIF2AK3, EIF2S3, EIF3F, EIF4A3, EIF5A, ELAC2, ELN, ELOVL4, ELP2, EMC1, EMC10, EML1, EMX2, ENO3, ENPP1, EOGT, EP300, EPG5, EPM2A, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXT1, EXT2, EXTL3, EYA1, EZH2, FA2H, FAH, FAM111A, FAM126A, FAM161A, FAM20A, FAM20C, FAM50A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAR1, FARS2, FARSA, FASTKD2, FAT4, FBN1, FBN2, FBP1, FBRSL1, FBXL3, FBXL4, FBXO11, FBXO31, FBXW11, FDX2, FDXR, FECH, FERMT3, FGD1, FGF10, FGF12, FGF16, FGF23, FGF3, FGFR1, FGFR2, FGFR3, FH, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNB, FLT4, FLVCR1, FLVCR2, FMN2, FMO3, FMR1, FN1, FOLR1, FOXC1, FOXC2, FOXE1, FOXE3, FOXF1, FOXG1, FOXN1, FOXP1, FOXP2, FOXP3, FOXRED1, FRAS1, FREM1, FREM2, FRMD7, FRMPD4, FTCD, FTL, FTSJ1, FUCA1, FUT8, FXN, FYCO1, FZD2, FZD6, G6PC1, G6PC3, GAA, GABBR2, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALE, GALK1, GALM, GALNS, GALNT2, GALNT3, GALT, GAMT, GARS1, GAS8, GATA2, GATA3, GATA4, GATA6, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCLC, GDAP1, GDF1, GDF5, GDF6, GDI1, GEMIN5, GFAP, GFER, GFM1, GFM2, GFPT1, GHR, GJA1, GJA3, GJA8, GJB3, GJC2, GK, GLA, GLB1, GLDC, GLE1, GLI1, GLI2, GLI3, GLIS3, GLMN, GLRA1, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAI1, GNAI3, GNAO1, GNAS, GNB1, GNB2, GNB5, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPAA1, GPC3, GPC4, GPC6, GPD1, GPHN, GPSM2, GPT2, GREB1L, GRHL3, GRHPR, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM1, GRM6, GSC, GSS, GTF2E2, GTF2H5, GTPBP2, GTPBP3, GUCY2C, GUSB, GYG1, GYS1, GYS2, GZF1, H1-4, H3-3A, H3-3B, H4C3, HAAO, HACE1, HADH, HADHA, HADHB, HAMP, HARS2, HAX1, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HES7, HESX1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HID1, HINT1, HIVEP2, HJV, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNF1B, HNF4A, HNMT, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOGA1, HOXA1, HOXA13, HOXC13, HOXD13, HPD, HPDL, HPGD, HPRT1, HPS1, HPSE2, HR, HRAS, HS2ST1, HSD17B10, HSD17B4, HSD3B7, HSF4, HSPD1, HSPG2, HTRA2, HUWE1, HYAL1, HYAL2, HYDIN, HYLS1, IARS1, IARS2, IBA57, IDH1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IGF1, IGF1R, IGF2, IGHMBP2, IGSF1, IHH, IKBKG, IL11RA, IL1RAPL1, IL1RN, IMPDH2, INPP5E, INPP5K, INPPL1, INTS1, INVS, IQCB1, IQCE, IQSEC2, IRF2BPL, IRF6, IRX5, ISCA1, ISCA2, ISCU, ITGA3, ITGA7, ITGA8, ITPA, ITPR1, IVD, JAG1, JAGN1, JAK3, JAM3, JARID2, KANSL1, KARS1, KAT5, KAT6A, KAT6B, KAT8, KBTBD13, KCNA2, KCNB1, KCNC1, KCND2, KCNH1, KCNJ10, KCNJ11, KCNJ2, KCNJ6, KCNK9, KCNMA1, KCNN2, KCNN3, KCNQ1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD1, KCTD3, KCTD7, KDELR2, KDM1A, KDM3B, KDM4B, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0586, KIAA0753, KIAA0825, KIAA1109, KIDINS220, KIF11, KIF14, KIF1A, KIF21B, KIF22, KIF2A, KIF5A, KIF5C, KIF7, KIFBP, KIT, KLF1, KLF7, KLHL40, KLHL7, KMT2A, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, KRIT1, KYNU, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP7, LARS1, LARS2, LBR, LCAT, LCT, LDB3, LDHA, LDLR, LDLRAP1, LEMD3, LFNG, LHX3, LHX4, LIAS, LIFR, LIG4, LINGO4, LINS1, LIPA, LIPT1, LIPT2, LMBR1, LMBRD1, LMBRD2, LMNA, LMNB1, LMX1B, LONP1, LPIN1, LPIN2, LPL, LRIG2, LRP2, LRP4, LRP5, LRPPRC, LRRK1, LSS, LTBP1, LTBP2, LTBP3, LYRM7, LYST, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACF1, MADD, MAF, MAFB, MAGEL2, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAP3K1, MAP3K7, MAPK1, MAPK8IP3, MAPKBP1, MAPRE2, MARS2, MASP1, MAST1, MAT1A, MATN3, MBD5, MBOAT7, MBTPS1, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCM3AP, MCOLN1, MCPH1, MDH2, MECOM, MECP2, MECR, MED12, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEGF10, MEGF8, MEIS2, MEOX1, MESD, MESP2, METTL23, METTL5, MFF, MFN2, MFRP, MFSD2A, MFSD8, MGAT2, MGME1, MGP, MICOS13, MICU1, MID1, MINPP1, MIPEP, MITF, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMP13, MMP2, MMP21, MMUT, MN1, MNX1, MOCS1, MOCS2, MOGS, MORC2, MPC1, MPDU1, MPI, MPLKIP, MPP5, MPV17, MRE11, MRPL3, MRPL44, MRPS2, MRPS22, MRPS34, MSL3, MSMO1, MSTO1, MSX1, MSX2, MTFMT, MTHFR, MTHFS, MTM1, MTO1, MTOR, MTPAP, MTR, MTRFR, MTRR, MTTP, MTX2, MVK, MYCN, MYH3, MYH6, MYH7, MYH8, MYH9, MYMK, MYO18B, MYO5A, MYO5B, MYO7A, MYOCD, MYT1L, NAA10, NAA15, NACC1, NADK2, NADSYN1, NAGA, NAGLU, NAGS, NALCN, NANS, NARS1, NARS2, NAXD, NAXE, NBAS, NBEA, NBN, NCDN, NCKAP1, NDE1, NDP, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECTIN1, NECTIN4, NEDD4L, NEK1, NEK8, NEMF, NEU1, NEUROD2, NEXMIF, NF1, NFASC, NFIA, NFIX, NFU1, NGLY1, NHLRC1, NHS, NIPBL, NKAP, NKX2-1, NKX2-5, NKX3-2, NLGN3, NLRP3, NMNAT1, NNT, NODAL, NOG, NONO, NOTCH1, NOTCH2, NOVA2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NPR3, NR2F1, NR2F2, NR4A2, NR5A1, NRAS, NRROS, NRXN1, NSD1, NSD2, NSDHL, NSUN2, NT5C2, NT5C3A, NTNG2, NTRK1, NTRK2, NUBPL, NUDT2, NUP107, NUS1, NXN, NYX, OAT, OBSL1, OCLN, OCRL, ODAD1, ODAD2, ODAPH, ODC1, OFD1, OGT, OPA1, OPA3, OPHN1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTC, OTOGL, OTUD5, OTUD6B, OTULIN, OTX2, OXCT1, OXR1, P3H1, P4HB, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PALB2, PANK2, PAPSS2, PARN, PARS2, PAX2, PAX3, PAX6, PAX8, PAX9, PBX1, PC, PCARE, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCGF2, PCK1, PCNT, PCSK9, PCYT1A, PCYT2, PDCD10, PDE3A, PDE4D, PDE6G, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM2L1, PGM3, PHACTR1, PHEX, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA1, PHKA2, PHKB, PHKG2, PHOX2B, PHYH, PI4KA, PIBF1, PIDD1, PIEZO2, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3C2A, PIK3CA, PIK3R1, PIK3R2, PINK1, PISD, PITRM1, PITX1, PITX2, PITX3, PKD1, PKD1L1, PKD2, PKDCC, PKHD1, PLA2G6, PLAA, PLCB1, PLCE1, PLK4, PLOD1, PLOD2, PLP1, PLPBP, PLS3, PMM2, PMPCA, PMPCB, PMS2, PNKP, PNP, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POC1B, POGZ, POLA1, POLD1, POLG, POLG2, POLR1A, POLR1B, POLR1C, POLR1D, POLR2A, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, POR, PORCN, POU1F1, POU3F3, PPA2, PPIB, PPIL1, PPM1D, PPOX, PPP1CB, PPP1R12A, PPP1R15B, PPP1R21, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM12, PRICKLE2, PRKACB, PRKAG2, PRKAR1A, PRKD1, PRKG2, PRMT7, PRODH, PROP1, PRPS1, PRR12, PRRT2, PRSS12, PRSS56, PRUNE1, PSAP, PSAT1, PSMB8, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTH1R, PTHLH, PTPN11, PTPN23, PTPN4, PTRHD1, PTS, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PYCR1, PYCR2, PYGL, PYGM, QARS1, QDPR, QRICH1, QRSL1, RAB11B, RAB18, RAB23, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAC3, RAD21, RAF1, RAI1, RALA, RALGAPA1, RAPSN, RARB, RARS1, RARS2, RASA1, RASGRP2, RAX, RBBP8, RBCK1, RBM10, RBM8A, RBP4, RBPJ, RECQL4, RELN, REN, RERE, RET, RETREG1, RFT1, RFX3, RFX4, RFX6, RFX7, RHOBTB2, RINT1, RIPK4, RIT1, RLIM, RMND1, RMRP, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, RNU4ATAC, RNU7-1, ROBO3, ROGDI, ROR2, RORA, RPE65, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPL11, RPL13, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS6KA3, RPS7, RRAS2, RRM2B, RSPH1, RSPH3, RSPO4, RSRC1, RTEL1, RTN4IP1, RTTN, RUNX2, RXYLT1, RYR1, SACS, SALL1, SALL4, SAMD9, SAMHD1, SAR1B, SARS2, SATB1, SATB2, SBDS, SBF1, SC5D, SCAPER, SCARF2, SCLT1, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCO1, SCO2, SCP2, SCUBE3, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SEC24D, SEPSECS, SEPTIN9, SERAC1, SERPINF1, SERPINH1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SETX, SF3B4, SFRP4, SFXN4, SGMS2, SGPL1, SGSH, SH3BP2, SH3PXD2B, SHANK2, SHANK3, SHH, SHMT2, SHOC2, SHOX, SI, SIAH1, SIK1, SIL1, SIM1, SIN3A, SIN3B, SIX1, SIX3, SIX5, SKI, SKIV2L, SLC10A7, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A1, SLC1A2, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC26A2, SLC27A4, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC30A10, SLC33A1, SLC34A1, SLC34A3, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A13, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC46A1, SLC4A1, SLC4A11, SLC4A4, SLC52A2, SLC52A3, SLC5A1, SLC5A5, SLC5A6, SLC6A1, SLC6A17, SLC6A19, SLC6A20, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLC9A6, SLCO2A1, SLX4, SMAD3, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCA5, SMARCAL1, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMCHD1, SMG8, SMO, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNIP1, SNORD118, SNRPB, SNX10, SNX14, SNX27, SON, SOS1, SOS2, SOST, SOX10, SOX11, SOX17, SOX2, SOX3, SOX4, SOX5, SOX6, SOX9, SP7, SPAG1, SPARC, SPART, SPATA5, SPECC1L, SPEG, SPEN, SPG11, SPG7, SPOP, SPR, SPRED1, SPTAN1, SPTBN1, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SRCAP, SRD5A3, SRY, SSBP1, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STAR, STEEP1, STIL, STN1, STRA6, STRADA, STS, STT3A, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SUPT16H, SURF1, SUZ12, SVBP, SYN1, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TAB2, TACO1, TAF1, TAF6, TAFAZZIN, TALDO1, TANC2, TANGO2, TAOK1, TAPT1, TARS2, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TBX15, TBX18, TBX20, TBX22, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCF20, TCF4, TCF7L2, TCIRG1, TCN2, TCOF1, TCTN1, TCTN2, TCTN3, TDP2, TECPR2, TEK, TELO2, TENM3, TENT5A, TERT, TET3, TFAP2A, TFAP2B, TFE3, TFR2, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TH, THAP1, THOC2, THOC6, THRA, TIMM50, TIMM8A, TINF2, TK2, TLK2, TMCO1, TMEM106B, TMEM107, TMEM126B, TMEM138, TMEM165, TMEM199, TMEM216, TMEM218, TMEM222, TMEM231, TMEM237, TMEM240, TMEM38B, TMEM67, TMEM70, TMEM94, TMPRSS6, TMTC3, TMX2, TNFRSF11A, TNFRSF11B, TNFSF11, TNPO2, TNRC6B, TOE1, TONSL, TOP3A, TOR1A, TP63, TP73, TPK1, TPP1, TRAF3IP1, TRAF7, TRAIP, TRAP1, TRAPPC12, TRAPPC2, TRAPPC4, TRAPPC6B, TRAPPC9, TREM2, TREX1, TRIM32, TRIM37, TRIM8, TRIO, TRIP11, TRIP12, TRIT1, TRMT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRNT1, TRPM1, TRPM3, TRPM6, TRPS1, TRPV4, TRPV6, TRRAP, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TSPYL1, TTC19, TTC21B, TTC37, TTC5, TTC7A, TTC8, TTI2, TTN, TTPA, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUFM, TUSC3, TWIST1, TWIST2, TWNK, TXNDC15, TXNL4A, TYMP, TYR, TYROBP, TYRP1, UBA5, UBE2A, UBE2T, UBE3A, UBE3B, UBE4A, UBR1, UBR7, UBTF, UFC1, UFM1, UFSP2, UGDH, UGP2, UGT1A1, UMOD, UMPS, UNC45A, UNC80, UPB1, UPF3B, UQCC2, UQCRB, UROC1, UROD, UROS, USB1, USP7, USP9X, UVSSA, VAMP2, VARS1, VARS2, VDR, VIPAS39, VKORC1, VLDLR, VPS11, VPS13B, VPS33B, VPS41, VPS4A, VPS53, VRK1, VSX2, WAC, WARS2, WASF1, WBP11, WDFY3, WDPCP, WDR11, WDR19, WDR26, WDR35, WDR37, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WNT1, WNT10B, WNT3, WNT5A, WNT7A, WRAP53, WT1, WWOX, XDH, XPA, XPC, XRCC4, XYLT1, XYLT2, YARS2, YIF1B, YIPF5, YWHAG, YY1, ZBTB18, ZBTB20, ZBTB24, ZC4H2, ZDHHC9, ZEB2, ZFHX4, ZFP57, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMIZ1, ZMPSTE24, ZMYND11, ZNF142, ZNF335, ZNF462, ZNF526, ZNF687, ZNF699, ZNF711, ZSWIM6, UBA2
Indications cliniques
Malformations
Laboratoires effectuant cette analyse
- Centre hospitalier universitaire de Sherbrooke
Laboratoire de cytogénétique et biologie moléculaire
Responsable(s) : Mme Nancy Charland, Dr Sébastien Lévesque, Dr Natascia Anastasio
