Panel del Síndrome de Meier-Gorlin
CDC45, CDC6, CDT1, ORC1, ORC4, ORC6
CDC45, CDC6, CDT1, ORC1, ORC4, ORC6
ARHGAP31, ARID1A, ARID1B, ATR, BHLHA9, BRCA2, BRIP1, DHODH, DLL4, DLX5, DOCK6, EOGT, ERCC4, ESCO2, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FGF10, GDF5, HDAC8, KYNU, NIPBL, NOTCH1, NSDHL, PALB2, PITX1, PUF60, RAD21*,...
ACTB*, ACTG1*, ARX#, ATP6V0A2, CIT, CRADD, DCX, FKTN, ISPD, KATNB1, KIAA1109, LAMB1, LARGE, MACF1, PAFAH1B1, POMGNT2, POMT1, RELN, TMTC3, TUBA1A*, TUBB2B*#, TUBG1*, VLDLR, YWHAE
ADAMTS3, CCBE1, FAT4, FLT4, FOXC2, GATA2, GJC2, KIF11, PIEZO1, PIK3CA*, RASA1, SOX18
AKT1, AKT3, ASPA, ASXL2, BRWD3, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DIS3L2*, DNMT3A, EED, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KDM1A, KIAA0196, KIF7, KPTN, L1CAM, MED12, MLC1, MPDZ, NFIB, NFIX, NSD1, OFD1, PIGA*,...
CHD7, EYA1, FLNB, HNRNPK*, IRF6, KDM1A, KDM6A, KMT2D, SIX5
ALPL, ARCN1, B3GAT3*#, B4GALT7, BMP1, CLCN5, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FGF23, FKBP10, IFITM5, LRP5*, MBTPS2, P3H1, P4HB, PHEX, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SGMS2, SLC29A3, SLC34A3, SP7, SPARC, TAPT1, TMEM38B, WNT1
AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C, FERMT3, GJA1*, LEMD3, LRP4, LRP5*, OSTM1, PLEKHM1*, PTDSS1, PTH1R, SLC29A3, SLCO2A1, SNX10, SOST, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP
ACTB*, ACTG1*, ADGRG1, AKT3, ARFGEF2, ARX#, ATP6V0A2, B3GALNT2#, COL4A1, COL4A2, DCX, DYNC1H1, EMX2, FAT4, FH, FKTN, FLNA, FLVCR2, GMPPB, GPSM2, ISPD, KATNB1, KIF1BP, KIF7, L1CAM, LAMA2, LAMB1, LAMC3, LARGE, MACF1, MED12, MEF2C, MPDZ, NDE1, NSDHL,...
ACO2, AFG3L2*, ANTXR1, APTX, ATAD3A*, AUH, C10ORF2, C12ORF65, C19ORF12, CHN1, CISD2*, DNAJC19, DNM1L, FDXR, FRMD7, GPR143, HESX1, ISCA2, KIF21A, MECR, MFN2, MGME1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6,...
ADAMTS10, ADAMTSL2*#, BMPR1B, DVL1, EXT1, FBN1, FGFR3, GDF5, GNAS, IFT122*, IFT140, IHH, INPPL1, LIFR, LTBP2, NPR2, PRKAR1A, ROR2, SHOX*#, SLC35D1, SMAD4, SOX9, TRIP11*, TRPS1, WDR19, WDR35, WNT5A
ANKH, CDKN1C, COL10A1, FGFR3, FLNA, MMP13, MMP9, PISD, PTH1R, RMRP, RUNX2, SBDS*
AKT3, AMPD2, ASPM, ASXL1, ASXL3, ATR, CASK, CCDC47, CDK5RAP2, CENPF, CENPJ, CEP152, CEP63, CSNK2A1, DONSON, DYNC1H1, DYRK1A, EFTUD2, EXOSC3, GFM1, GPT2, KANSL1*, KATNB1, KIF11, LIG4, MBD5, MCPH1#, MED17, MFSD2A, MIPEP*, MRE11A, MYCN, MYO18B, NCAPD3, NDE1,...
CSPP1, DYNC2H1, EVC, EVC2, GLI2, IFT122*, IFT140, IFT172, IFT52, IFT80, NEK1, TCTEX1D2, TCTN3, TTC21B, WDR19, WDR34, WDR35, WDR60
ALPL, ANKH, B4GALT7, CASR, CLCN5, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, CYP27B1, CYP2R1, DMP1, ENPP1, FBN1, FGF23, FKBP10, GALNT3, MGP, P3H1, PHEX, PLOD2, PLS3, PPIB, PTDSS1, SERPINF1, SGMS2, SLC34A3, SLC39A13, SNX10, SOX9, TNFRSF11A, TNFRSF11B, VDR,...
ATR, CENPJ, CEP152, CEP63, PCNT, RBBP8
HESX1, OTX2, PAX6, SOX2*
ADGRG1, AKT3, FH, GPSM2, KIF1BP, LAMC3, NDE1, NSDHL, OCLN*#, PI4KA*, RAB18, SNAP29, SRPX2, TBC1D20, TUBA1A*, TUBA8, TUBB2A*#, TUBB2B*#, TUBB3*, WDR62
ACVRL1, CCM2, ELMO2*, ENG, EPHB4, GDF2, GLMN, KRIT1, PDCD10, PIK3CA*, PTEN*, RASA1, SMAD4, SOX18, STAMBP, TEK
ACAN#, ACP5, B3GALT6#, BGN, CANT1, CHST3, COL11A1, COL11A2, COL2A1, DDR2, DYM, EIF2AK3, FN1, HSPG2, INPPL1, KIF22, LONP1, MATN3, MMP13, NANS, NKX3-2, PAM16, PAPSS2, PCYT1A, PISD, POP1, RAB33B, RMRP, RSPRY1, SLC39A13, SMARCAL1, TONSL, TRAPPC2*, TRPV4, UFSP2,...
ACAN#, ACP5, ADAMTS10, ADAMTSL2*#, AGPS, ALPL, ANKH, ARSE*, B3GALT6#, BMP1, BMPR1B, CA2, CANT1, CDC6, CDKN1C, CDT1, CHST3, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CSPP1, CTSK, CUL7, CYP27B1, DHCR24, DLL3,...
ACVR2B, ANKS6, ARMC4*#, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CFAP53, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11*, DNAH5, DNAI1, DNAI2, DNAL1, DYX1C1, FOXH1, GDF1, INVS, LEFTY2*, LRRC6, MMP21, NODAL, PIH1D3, PITRM1, PKD1L1, SPAG1, TTC25, ZIC3, ZMYND10
BDNF, CELSR3, EDN3, EDNRB, KIF1BP, L1CAM, MITF, NRG1, NRTN, PAX3, PHOX2B, RET, RMRP, SOX10, ZEB2
CDON, FGF8, FGFR1, FOXH1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2
CDK9, CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1*, MNX1#, MYCN, PTF1A, RFX6, SOX2*, TTC7A
EXT1, EXT2, PTPN11
ALPL, ALX3, ALX4, CREBBP, DHODH, DLL3, EFNB1, EFTUD2, EHMT1, EP300, EVC, EVC2, HDAC8, HSPG2, LIFR, MYCN, NIPBL, POLR1A, POLR1C#, POLR1D, SF3B4, SMC1A, SMC3, SRCAP, TCOF1, TWIST1, UBE2A
AFF4, HDAC8, NIPBL, RAD21*, SMC1A, SMC3
ALPL, ALX3, ALX4, BMP4, CDC45, EDNRB, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, GDF5, GLI3, IFT122*, IFT140, IL11RA, MASP1, MEGF8, MSX2*, NOG, PAX3, POR, RAB23, RECQL4, SKI, SOX10, SPECC1L*, TCF12, TGFBR1, TGFBR2, TWIST1, TWIST2,...
ACTB*, ACTG1*, AMMECR1, ARCN1, ATR, B3GAT3*#, BCS1L, BLM, BMP2, BRAF*, CBL, CCDC8, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, COL27A1, CREBBP, CUL7, DHCR7, DONSON, EP300, FGD1, FGFR3, FN1, GH1*, GHR, GHRHR, GHSR, GLI2, GNAS, HDAC8, HESX1,...
ACAN#, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2*#, AGA, AGPS, AIFM1, AKT1, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11*, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1B, ARSB, ARSE*, ATP6V0A2, ATR, B3GALT6#, B3GAT3*#, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B,...
ACAN#, ACP5, ACTB*, ACTG1*, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2#, ADAMTSL2*#, AFF4, AGA, AGPS, AIFM1, AKT1, ALPL, ALX1, ALX3, ALX4, AMER1, AMMECR1, ANKH, ANKRD11*, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE*, ASCC1, ASXL1, ATP6V0A2, ATR, B3GALT6#,...
ARHGAP29, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, CTNND1*, FOXE1, GRHL3, IRF6, KDM6A, KMT2D, MSX1, SATB2, SPECC1L*, TBX2, TBX22, TGDS, TP63, TXNL4A, ZSWIM6
CCM2, KRIT1, PDCD10, RASA1
AGPS, ARSE*, EBP, GNPAT, LBR, MGP, NSDHL, PEX14, PEX19, PEX7
BMP2, BMPR1B, CHSY1, DHCR7, ESCO2, FAM58A, GDF5, GNAS, HOXA13#, HOXD13, IHH, MYCN, NOG, PDE3A, PDE4D, PTDSS1, PTHLH, RECQL4, ROR2, SOX9, TP63
ACTA1, ADGRG6, AGRN, BIN1, CACNA1E, CASK, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, CNTNAP1, COL6A2, COLQ, DHCR24, DOK7, DPAGT1, ECEL1, EGR2, ERBB3, ERCC5, ERCC6*, EXOSC3, FBN2, FHL1*, FKBP10, FKTN, FLVCR2, GBA*, GBE1, GFPT1,...
AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMB3, LTBP3, MMP20, SLC24A4, WDR72#, WNT10B
ATR, BCS1L, CCDC8, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, CUL7, LARP7, NOTCH2*, OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RNU4ATAC, RTTN, SRCAP, TRIM37, XRCC4
ARHGAP31, DLL4, DOCK6, EOGT, KCTD1*, NOTCH1, RBPJ*, UBR1
