Painel de Síndromes Clinicamente Reconhecíveis
Instruções para paciente
O painel consiste de 237 genes:A2ML1, ABCC9, ACTB, ACTG1, ALMS1, ANKRD11, AP3B1, AP3D1, ARHGAP31, ARID1A, ARID1B, ARID2, ARL6, ARL6IP1, ASXL1, ATR, ATRX, BANF1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLM, BLOC1S3, BLOC1S6, BRAF, CBL, CCDC65, CCDC8, CCDC88A, CCDC88C, CD96, CDC6, CDT1, CENPJ, CEP152, CEP290, CEP63, CHD7, CHRNG, CNTNAP2, CREBBP, CUL7, DHCR7, DHODH, DLL4, DOCK6, DTNBP1, DVL1, DVL3, EDN3, EDNRB, EHMT1, ELP4, EOGT, EP300, EPG5, ERCC6, ERCC6L2, ERCC8, EYA1, EZH2, FBN1, FBN2, FGD1, FOXL2, GATA3, GCM2, GLE1, GNAS, GNAS-AS1, GPC3, GPR143, GRHL3, HDAC8, HNF1A, HNF1B, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HSPG2, IFT27, IRF6, JAG1, KAT6B, KDM6A, KIF1BP, KIF7, KIT, KITLG, KMT2A, KMT2C, KMT2D, KRAS, KRIT1, LMNA, LMX1B, LRMDA, LYST, LZTFL1, LZTR1, MAP2K1, MAP2K2, MATR3, MED12, MID1, MITF, MKKS, MKS1, MLPH, MYBPC1, MYH3, MYH8, MYO5A, NF1, NFIX, NIN, NIPBL, NOTCH1, NOTCH2, NRAS, NRXN1, NSD1, NSMCE2, OBSL1, OCA2, OFD1, ORC1, ORC4, ORC6, PAX3, PAX6, PHF6, PIEZO2, POLR1C, POLR1D, PPP1CB, PSMC3IP, PTCH1, PTCH2, PTEN, PTH, PTH1R, PTHLH, PTPN11, RAB27A, RAD21, RAF1, RASA1, RASA2, RBBP8, RBM8A, RBPJ, RECQL4, RIT1, RNF113A, RNF125, RNF135, RNF139, RNF168, RNF170, ROR2, RPS6KA3, RRAS, SALL1, SALL4, SDCCAG8, SERPINF1, SETBP1, SF3B4, SHOC2, SIX5, SKI, SKIV2L, SLC24A5, SLC25A24, SLC45A2, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNAI2, SOS1, SOS2, SOX10, SPECC1L, SPRED1, SRCAP, STX16, SUFU, TBCE, TBX5, TCF4, TCOF1, TFAP2A, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TNNI2, TNNT3, TP63, TPM2, TRAIP, TRIM32, TRIT1, TRPS1, TTC8, TYR, TYROBP, TYRP1, UBR1, VIPAS39, VKORC1, VPS13B, VPS33B, WASHC5, WDPCP, WNT5A, WRN, ZEB2, ZMPSTE24, ZNF141, ZNF148.