Buscador de Patologías y Genes

Panel NGS

P00238

Patología

INMUNODEFICIENCIAS GLOBAL

396

Genes

ACP5, ACTB, ADA, ADAM17, ADAMTS13, ADAR, AGA, AICDA, AIRE, AKT1, ALG13, AP3B1, AP3D1, AP4E1, APOL1, ATM, ATP2A2, B2M, BCL10, BLM, BLNK, BLOC1S6, BRCA2, BRIP1, BTK, C1QA, C1QB, C1QC, C1R, C1S, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CASP10, CASP8, CAVIN1, CBL, CCBE1, CCDC103, CCDC39, CCDC40, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD79A, CD79B, CD81, CD86, CD8A, CDKN2B, CEBPE, CFD, CFH, CFHR1, CFHR5, CFI, CFP, CFTR, CHD7, CIITA, CLCN7, CLEC7A, COG6, COLEC11, COMT, CORO1A, CR2, CREBBP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTSC, CXCL12, CXCR4, CYBA, CYBB, DCLRE1C, DDX58, DGKE, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNASE1, DNASE1L3, DNASE2, DNMT3B, DOCK8, DTNBP1, ELANE, ELF4, ERCC2, ERCC3, ERCC4, ETV6, EXTL3, F11, F12, F13A1, F13B, F5, F7, F8, F9, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FCN3, FERMT3, FGA, FGB, FHL1, FOXN1, FOXP3, FPR1, G6PC, G6PC3, G6PD, GATA1, GATA2, GFI1, GJC2, GP1BA, GP9, GRHL2, GTF2H5, HAX1, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HYDIN, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL1RN, IL21R, IL2RA, IL2RG, IL36RN, IL7R, INPP5D, INSR, INVS, IRAK4, IRF4, IRF8, ITCH, ITGAM, ITGB2, ITK, JAK2, JAK3, KDM6A, KMT2D, KRAS, LAMTOR2, LCK, LIG1, LIG4, LPIN2, LRBA, LRRC6, LRRC8A, LTBP3, LYST, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MBL2, MC2R, MCM4, MEFV, MLH1, MLPH, MOGS, MPL, MPO, MRE11, MRTFA, MS4A1, MSH6, MTHFD1, MVK, MYD88, MYH9, MYO5A, MYO5B, NBAS, NBN, NCF2, NCF4, NCSTN, NFKB2, NFKBIA, NHEJ1, NKX2-5, NLRP1, NLRP12, NLRP3, NLRP7, NME8, NOD2, NRAS, OFD1, ORAI1, ORC4, OSTM1, PALB2, PAX5, PBX1, PCCA, PCCB, PDCD1, PEPD, PICALM, PIGA, PIK3CD, PIK3R1, PLCG2, PLG, PML, PMM2, PMS2, PNP, POLE2, PRF1, PRKDC, PROC, PRPS1, PSEN1, PSENEN, PSTPIP1, PTEN, PTPN11, PTPN22, RAB27A, RAC2, RAD50, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RASGRP2, RDX, RECQL4, RFX5, RFXANK, RFXAP, RHOH, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RPGR, RPL11, RPL35A, RPS24, RRAS2, RSPH4A, RSPH9, RUNX1, SAMD9, SAMHD1, SEMA3E, SERAC1, SERPING1, SH2B3, SH2D1A, SH3BP2, SLC29A3, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC46A1, SLC7A7, SLX4, SMARCAL1, SNX10, SP110, SPINK5, SRP72, STAT1, STAT3, STAT4, STAT5B, STIM1, STK11, STK4, STX11, STXBP2, TAZ, TBK1, TBX1, TCF3, TCF7L1, TCIRG1, TCN2, TERT, TFRC, TGFB1, TGFB2, TGFB3, THBD, TICAM1, TIMM8A, TINF2, TIRAP, TLR3, TLR4, TMC6, TMC8, TMEM173, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFSF11, TPP1, TRADD, TRAF3, TRAF3IP2, TREX1, TTC37, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, VPS13B, WAS, WIPF1, WRAP53, XBP1, XIAP, XK, XRCC4, XRCC5, ZAP70, ZBTB24

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