Приложение А3.4. Пример таргетной панели NGS для диагностики Первичных иммунодефицитов

Приложение А3.4

Пример таргетной панели NGS для диагностики Первичных иммунодефицитов. [47, 48]

ACP5, ACTB, ADA, ADAMTS13, ADAR, AGA, AICDA, AIRE, AK2, ALG13, AMN, ANK1, ANKRD26, AP3B1, APOL1, ATM, BLM, BLNK, BLOC1S3, BLOC1S6, BRCA2, BRIP1, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C9, CARD14, CARD9, CASP10, CASP8, CCDC103, CCDC39, CCDC40, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD79A, CD79B, CD81, CD8A, CDAN1, CEBPA, CEBPE, CFB, CFD, CFH, CFHR1, CFHR3, CFHR5, CFI, CFP, CHD7, CIITA, CLEC7A, COLEC11, CORO1A, COX4I2, CR2, CREBBP, CSF3R, CTC1, CTSC, CUBN, CXCR4, CYBA, CYBB, CYCS, DCLRE1C, DHFR, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNM2, DNMT3B, DOCK8, DSG1, DTNBP1, EGLN1, ELANE, ENTPD1, EPAS1, EPB42, EPOR, ERCC2, ERCC3, F10, F11, F12, F13A1, F2, F5, F8, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FASLG, FCGR2B, FCGR3A, FCGR3B, FCN3, FERMT3, FGA, FGB, FGF10, FGFR2, FGG, FOXN1, FOXP3, G6PC, G6PC3, G6PD, GATA1, GATA2, GFI1, GIF, GJC2, GP1BA, GP1BB, GP9, GTF2H5, HAX1, HBA1, HBA2, HBB, HBD, HFE, HPS1, HPS3, HPS4, HPS5, HPS6, HYDIN, ICOS, IFNG, IFNGR1, IFNGR2, IGLL1, IKBKG, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL1RN, IL2, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, INSR, IRAK4, IRF8, ITCH, ITGA2B, ITGB2, ITGB3, ITK, JAK2, JAK3, KLF1, KMT2D, KRAS, LAMTOR2, LIG1, LIG4, LPIN2, LRRC6, LRRC8A, LYST, MAGT1, MAN2B1, MANBA, MASP1, MASP2, MASTL, MBL2, MC2R, MCM4, MEFV, MLPH, MPL, MPO, MRE11A, MS4A1, MTHFD1, MVK, MYD88, MYH9, MYO5A, NBN, NCF1, NCF2, NCF4, NCSTN, NFKBIA, NHEJ1, NHP2, NKX2-5, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, ORAI1, PALB2, PCCA, PCCB, PDGFRA, PEPD, PIGA, PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PMS2, PNP, PRF1, PRKDC, PRPS1, PSENEN, PSMB8, PSTPIP1, PTPN11, PTPRC, PTRF, RAB27A, RAC2, RAD51C, RAG1, RAG2, RASGRP2, RBM8A, RECQL4, RFX5, RFXANK, RFXAP, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RSPH4A, RSPH9, RUNX1, RUNX2, SAMHD1, SBDS, SEC23B, SEMA3E, SERPINC1, SERPINE1, SERPING1, SH2B3, SH2D1A, SH3BP2, SKIV2L, SLC29A3, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC46A1, SLC4A1, SLX4, SMARCAL1, SP110, SPINK5, SPTA1, SPTB, SRP72, STAT1, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TCF4, TCIRG1, TCN2, TERC, TERT, THBD, TICAM1, TINF2, TIRAP, TLR3, TMC6, TMC8, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TRAF3, TRAF3IP2, TREX1, TTC37, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, VHL, VPS13B, VWF, WAS, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24