8 | Síndromes Clinicamente Reconheciveis |
Síndromes Clinicamente Reconheciveis
Condição Médica | Síndromes Clinicamente Reconheciveis |
Cód. Genetika | SRC |
Sinonímias | Síndrome de Aarskog, Síndrome de Adams-Oliver, Síndrome de Alagille, Albinismo, Síndrome de Alstrom, Aniridia, Síndrome de Bardet-Biedl, Síndrome de Blefarofimose, Ptose e Epicanto Inverso, Síndrome de Bloom, Síndrome BOFS, Síndrome BOR, Síndrome de Borje |
Observações | |
Estratégia de Análise | Painel por Sequenciamento de Próxima Geração |
Genes Relacionados | CEP290, FBN2, MYBPC1, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, JAG1, TYR, PAX6, EDN3, EDNRB, GPR143, MITF, OCA2, PAX3, SLC45A2, SNAI2, SOX10, TYRP1, ARHGAP31, DOCK6, NOTCH1, ANKRD11, BRAF, CREBBP, DHCR7, FGD1, MID1, NIPBL, NRXN1, NSD1, PHF6, PTPN11, SMC1A, TCF4, VPS13B, ZEB2, ARID1B, GLE1, SKI, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, EP300, KMT2A, LMNA, BBS1, BBS2, BLM, TFAP2A, EYA1, SIX5, BBS12, ALMS1, ARL6, BBS10, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP, NF1, ERCC8, HDAC8, KRAS, MAP2K1, MAP2K2, GNAS, HRAS, NRAS, OFD1, RAD21, RAF1, CBL, RASA1, SHOC2, SOS1, SPRED1, ATR, SMC3, NOTCH2, VIPAS39, WRN, TBX5, EZH2, GPC3, GATA3, SALL1, RECQL4, ROR2, TBCE, RPS6KA3, IRF6, POLR1C, POLR1D, TCOF1, TP63, FOXL2, SRCAP, LMX1B, KDM6A, KMT2D, NFIX, CENPJ, CEP152, KIF1BP, VPS33B, CDC6, CDT1, ORC1, ORC4, ORC6, SPECC1L, WNT5A, CEP63, RBBP8, BANF1, ELP4, GCM2, PTH, STX16 |
Especialidades | Genética Médica |
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| Painel por Sequenciamento de Próxima Geração | CEP290, FBN2, MYBPC1, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, JAG1, TYR, PAX6, EDN3, EDNRB, GPR143, MITF, OCA2, PAX3, SLC45A2, SNAI2, SOX10, TYRP1, ARHGAP31, DOCK6, NOTCH1, ANKRD11, BRAF, CREBBP, DHCR7, FGD1, MID1, NIPBL, NRXN1, NSD1, PHF6, PTPN11, SMC1A, TCF4, VPS13B, ZEB2, ARID1B, GLE1, SKI, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, EP300, KMT2A, LMNA, BBS1, BBS2, BLM, TFAP2A, EYA1, SIX5, BBS12, ALMS1, ARL6, BBS10, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP, NF1, ERCC8, HDAC8, KRAS, MAP2K1, MAP2K2, GNAS, HRAS, NRAS, OFD1, RAD21, RAF1, CBL, RASA1, SHOC2, SOS1, SPRED1, ATR, SMC3, NOTCH2, VIPAS39, WRN, TBX5, EZH2, GPC3, GATA3, SALL1, RECQL4, ROR2, TBCE, RPS6KA3, IRF6, POLR1C, POLR1D, TCOF1, TP63, FOXL2, SRCAP, LMX1B, KDM6A, KMT2D, NFIX, CENPJ, CEP152, KIF1BP, VPS33B, CDC6, CDT1, ORC1, ORC4, ORC6, SPECC1L, WNT5A, CEP63, RBBP8, BANF1, ELP4, GCM2, PTH, STX16 | SRC | Genética Médica |