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Deficiência Intelectual Ligada ao X |
Painel por Sequenciamento de Próxima Geração |
ABCD1, ACSL4, AFF2, AGTR2, AIFM1, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, EBP, EIF2S3, FAAH2, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, GSPT2, HCCS, HCFC1, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, KLF8, L1CAM, LAMP2, LAS1L, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, OCRL, OFD1, OGT, OPHN1, OTC, PAK3, PCDH19, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, THOC2, TIMM8A, TSPAN7, UBE2A, UPF3B, USP9X, WDR13, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZMYM3, ZNF41, ZNF711, ZNF81 |
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Distrofia de Retina / Fotoreceptor |
Painel por Sequenciamento de Próxima Geração |
ABCA4, ADAM9, AIPL1, BBS1, BEST1, C1QTNF5, C2ORF71, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CDH3, CDHR1, CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, CRB1, CRX, CYP4V2, DHDDS, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GNAT1, GNAT2, GPR179, GRM6, GUCA1A, GUCA1B, GUCY2D, IDH3B, IMPDH1, IMPG2, IQCB1, KCNJ13, KCNV2, KLHL7, LCA5, LRAT, LRIT3, LRP5, MAK, MERTK, MFN2, NDP, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PAX6, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PITPNM3, PLA2G5, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SLC24A1, SNRNP200, SPATA7, TIMM8A, TIMP3, TMEM126A, TOPORS, TRPM1, TSPAN12, TTC8, TULP1, UNC119, USH2A, VCAN, ZNF513 |
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Atrofia Óptica, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ACO2, AUH, C12ORF65, CISD2, MFN2, MTPAP, NDUFS1, NR2F1, OPA1, OPA3, POLG, SLC24A1, SPG7, TIMM8A, TMEM126A, WFS1 |
