Immunodeficiency, Developmental Delay, And Hypohomocysteinemia; Imddhh

BCL6, ROS1, BRAF, BRCA1, BRCA2, SMARCB1, SMO, SRC, STK11, HNF1A, TP53, TSC1, TSC2, VHL, EML4, BRD4, CCND1, CCNE1, FBXW7, CD74, CDH1, CDK4, CDK6, CDKN2A, CDKN2B, KEAP1, CSF1R, CTNNB1, DDR2, RICTOR, RPTOR, EGFR, ERBB2, ERBB4, EZH2, FGFR1, FGFR2, FGFR3, FLT3, AKT1, MTOR, ALK, GNA11, GNA13, GNAI2, GNAQ, GNAS, GNAT2, GNG2, HRAS, IDH1, IDH2, APC, JAK2, JAK3, KDR, KIF5B, KIT, KRAS, AR, ARAF, SMAD4, MDM2, MET, MLH1, MPL, MYC, MYCL, MYCN, ABL1, NF1, NF2, NFE2L2, NOTCH1, NPM1, ATM, NRAS, NRG1, NTRK1, PDGFRA, PDGFRB, ATR, PIK3CA, PTCH1, PTEN, PTPN11, RB1, RET

RIT1, ROS1, RXRA, FOXL2, BRAF, BRCA1, BRCA2, SMARCA4, SMARCB1, KDM5C, SOS1, STK11, TEK, TERT, TGFBR2, MED12, TP53, TSC1, TSC2, VHL, WT1, KMT2C, SHOC2, CCND1, FBXW7, RAD54B, CDH1, CDK6, CDKN1A, CDKN1B, CDKN2A, SETD2, SPRED1, TRAF7, BRIP1, KEAP1, CREBBP, CDK12, CSF1R, CTNNB1, PALB2, DAXX, DDR2, PBRM1, EGFR, ERBB2, ERBB3, ERBB4, ERCC2, ESR2, FANCA, FAT1, FGFR1, FGFR2, FGFR3, FGFR4, FLT1, FLT3, FLT4, AKT1, AKT2, AKT3, MTOR, GATA4, ALK, GNAS, H3F3A, HIST1H3B, HRAS, IDH1, IDH2, APC, JAK1, JAK2, KDR, KIT, KLF4, KRAS, AR, AFF3, SMAD2, SMAD4, MAP2K1, MAP2K2, MAP3K3, MCL1, MET, MLH1, KMT2D, MN1, MYB, MYBL1, MYC, ABL1, NF1, NF2, NFE2L2, NOTCH1, NOTCH2, ATM, NRAS, NTRK1, NTRK2, PDGFRA, PDGFRB, ATRX, PIK3C2B, PIK3CA, PIK3R1, PIK3R2, POLD1, POLE, PPARG, PPP2R1A, BAP1, PTEN, RAF1, RB1, BCL2L1, RET

BRCA1, BRCA2, TGFBR2, TP53, KDM6A, KMT2C, NSD1, CCND1, FBXW7, CDKN2A, ASXL1, EGFR, EP300, ERBB2, FAT1, AKT1, AKT2, AKT3, MTOR, GATA4, HRAS, APC, KRAS, AFF3, RHOA, SMAD4, MCL1, KMT2D, NF1, NFE2L2, NOTCH1, NOTCH2, ATM, NRAS, PIK3C2B, PIK3CA, PIK3R1, PTEN, RAC1, RB1, BCL2L1

BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMO, SOX10, SOX2, SPOP, SRC, BTG2, BTK, STAG2, STAT3, STAT4, STAT5A, STAT5B, STAT6, STK11, AURKB, AURKA, TAF1, HNF1A, TCF3, TCL1A, TGFBR2, NKX2-1, TLL2, TMSB4X, TNFAIP3, TNFRSF11A, TNFRSF14, TNFRSF17, FAS, CD70, MED12, TOP1, TP53, TRAF2, TRAF3, TRAF5, TSC1, TSC2, TYK2, U2AF1, KDM6A, VHL, NSD2, CCN6, WT1, XBP1, XPO1, ZNF217, KAT6A, ZNF24, ZMYM3, IKZF1, IKZF2, IKZF3, ACTB, BCL11B, PCLO, PDCD11, BRD4, FBXO11, KDM2B, GTSE1, CTCF, KMT2C, HIST1H2BK, HDAC4, HDAC7, CIC, CAD, CRLF2, IKBKE, CBFB, CBL, P2RY8, SETBP1, CCND1, CCND2, CCND3, CCNE1, TP63, CCT6B, NOD1, CARD11, CD22, SUFU, FBXO31, CD36, TMEM30A, FBXW7, CDC73, CD58, FRS2, CD79A, CD79B, KDM4C, ARHGAP26, NCSTN, SUZ12, PASK, POT1, CDH1, SPEN, CD274, CDK4, CDK6, CDK8, ADGRA2, CDKN1B, CDKN2A, CDKN2B, CDKN2C, ARID2, EMSY, PHF6, ELP2, ASXL1, CEBPA, SETD2, RNF43, LRRK2, KLHL6, PDCD1LG2, BRSK1, EXOSC6, CKS1B, CHD2, CHEK1, SOCS2, SOCS1, SOCS3, BRIP1, FANCL, BCOR, MIB1, BTLA, ICK, ZRSR2, U2AF2, KEAP1, CREBBP, CRKL, CDK12, RASGEF1A, CSF1R, CSF3R, SMC3, TENT5C, DOT1L, CTNNA1, CTNNB1, CUX1, CXCR4, BCORL1, ZNF703, TET2, PALB2, DAXX, AMER1, DDR2, FLCN, DDX3X, GID4, RICTOR, NUP93, APH1A, TBL1XR1, DNM2, DNMT3A, PAG1, PBRM1, TUSC3, RPTOR, DTX1, DUSP2, DUSP9, YY1AP1, MYO18A, EBF1, S1PR2, EED, EGFR, EP300, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERG, ETS1, ETV6, EZH2, FAF1, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FGF10, FGF14, FGF19, FGF23, FGF3, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FHIT, FLT1, FLT3, FLT4, FOXO1, FOXO3, FOXP1, AKT1, AKT2, AKT3, MTOR, GADD45B, GATA1, GATA2, GATA3, ALK, GNA11, GNA12, GNA13, GNAQ, GNAS, GRIN2A, GSK3B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H2AL, HIST1H2AC, HIST1H2AM, HIST1H2AG, HIST1H2BC, HIST1H2BO, HIST1H2BJ, HIST1H3B, HDAC1, HGF, HRAS, HSP90AA1, IRF8, ID3, IDH1, IDH2, IGF1R, APC, BIRC3, IL7R, INHBA, INPP4B, INPP5D, IRF1, IRF4, IRS2, JAK1, JAK2, JAK3, JARID2, JUN, KDR, KIT, KRAS, MAFB, AR, ARAF, ARFRP1, RHOA, LRP1B, SMAD2, SMAD4, MAF, MAGED1, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K14, MAP3K6, MAP3K7, MAPK1, MCL1, MDM2, MDM4, MEF2B, MEF2C, MEN1, MET, CIITA, MITF, MKI67, MLH1, KMT2D, MPL, MRE11, MSH2, MSH3, MSH6, ASMTL, MUTYH, MYC, MYCL, MYCN, MYD88, ABL1, NCOR2, NF1, NF2, NFE2L2, NFKBIA, NOTCH1, NOTCH2, NPM1, ATM, NRAS, NT5C2, NTRK1, NTRK2, NTRK3, NUP98, PAK3, PAX5, PC, PCBP1, PDCD1, PDGFRA, PDGFRB, PDK1, ATR, ATRX, PIK3CA, PIK3CG, PIK3R1, PIK3R2, PIM1, AXIN1, AXL, PLCG2, B2M, PPP2R1A, PRDM1, PRKAR1A, PRKDC, PRSS8, BAP1, BARD1, PTCH1, PTEN, PTPN11, PTPN2, PTPN6, PTPRO, RAD21, RAD50, RAD51, RAF1, RARA, RB1, KDM5A, BCL10, BCL2L2, RELN, RET

RHEB, RIT1, ROS1, BRAF, BRCA1, BRCA2, ARID1A, SMO, STK11, HNF1A, TERT, TP53, TSC1, VHL, CCND1, CCND2, CCNE1, FBXW7, CDH1, CDK4, CDK6, CDKN2A, CTNNB1, DDR2, EGFR, ERBB2, EZH2, FGFR1, FGFR2, FGFR3, AKT1, MTOR, GATA3, ALK, GNA11, GNAQ, GNAS, HRAS, IDH1, IDH2, APC, JAK2, JAK3, KIT, KRAS, AR, ARAF, RHOA, SMAD4, MAP2K1, MAP2K2, MAPK1, MAPK3, MET, MLH1, MPL, MYC, NF1, NFE2L2, NOTCH1, NPM1, ATM, NRAS, NTRK1, NTRK3, PDGFRA, PIK3CA, PTEN, PTPN11, RAF1, RB1, RET

BCL6, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, FOXL2, BRAF, BRCA1, BRCA2, SLIT2, SMARCA4, SMARCB1, ARID1A, KDM5C, SMO, SNCAIP, SOX10, SOX2, SOX9, SPOP, SPTA1, SRC, BTG1, BTK, STAG2, STAT3, STAT4, STK11, AURKB, AURKA, SYK, TAF1, TBX3, HNF1A, TERC, TERT, TGFBR2, NKX2-1, TNFAIP3, TNFRSF14, FAS, MED12, TOP1, TOP2A, TP53, TSC1, TSC2, U2AF1, KDM6A, VEGFA, VHL, CCN6, WT1, XPO1, ZNF217, KAT6A, IKZF1, BRD4, CTCF, KMT2C, CIC, NSD1, CRLF2, IKBKE, RUNX1T1, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CARD11, SUFU, FBXW7, CDC73, FRS2, CD79A, CD79B, DICER1, ACVR1B, CDH1, SPEN, CDH4, CD274, CDK4, CDK6, CDK8, CDKN1A, ADGRA2, CDKN1B, CDKN2A, CDKN2B, CDKN2C, ARID2, ARID1B, EMSY, ERRFI1, ASXL1, CEBPA, SETD2, RNF43, KLHL6, PDCD1LG2, MAGI2, CHD2, CHEK1, SOCS1, BRIP1, FANCL, ZBTB2, BCOR, QKI, PREX2, KEAP1, CREBBP, CRKL, CDK12, CSF1R, TENT5C, DOT1L, CTNNA1, CTNNB1, CUL3, BCORL1, CYLD, ZNF703, TET2, PALB2, DAXX, AMER1, DDR2, FLCN, GID4, RICTOR, NUP93, DNMT3A, PBRM1, RPTOR, EGFR, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERG, EZH2, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FAT1, FGF10, FGF14, FGF19, FGF23, FGF3, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLT1, FLT3, FLT4, FOXP1, AKT1, AKT2, AKT3, MTOR, FUBP1, GABRA6, GATA1, GATA2, GATA3, GATA4, GATA6, ALK, GLI1, GNA11, GNA13, GNAQ, GNAS, GRIN2A, GRM3, GSK3B, H3F3A, HGF, HRAS, HSD3B1, HSP90AA1, IDH2, IGF1R, IGF2, APC, IL7R, INHBA, INPP4B, IRF2, IRF4, IRS2, JAK1, JAK2, JAK3, JUN, KDR, KEL, KIT, KRAS, AR, ARAF, ARFRP1, LMO1, LRP1B, LYN, LZTR1, SMAD2, SMAD3, SMAD4, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MCL1, MDM2, MDM4, MEF2B, MEN1, MET, MITF, MLH1, KMT2D, MPL, MRE11, MSH2, MSH6, MUTYH, MYC, MYCL, MYCN, MYD88, ABL1, ABL2, NF1, NF2, NFE2L2, NFKBIA, NOTCH1, NOTCH2, NOTCH3, NPM1, ATM, NRAS, NTRK1, NTRK2, NTRK3, PAK3, PRKN, PAX5, PDGFRA, PDGFRB, PDK1, ATR, ATRX, PIK3C2B, PIK3CA, PIK3CB, PIK3CG, PIK3R1, PIK3R2, AXIN1, AXL, PLCG2, PMS2, POLD1, POLE, PPP2R1A, PRDM1, PRKAR1A, PRKCI, PRKDC, PRSS8, BAP1, BARD1, PTCH1, PTEN, PTPN11, RAC1, RAD50, RAD51, RAF1, RANBP2, RARA, RB1, KDM5A, RBM10, BCL2L1, BCL2L2, RET

BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2, SRSF3, SH3GL1, STIL, FOXL2, BRAF, BRCA1, BRCA2, SLC34A2, BRD3, SMARCA4, SMARCB1, SMARCE1, ARID1A, KDM5C, SMO, SOX10, SOX2, SPOP, SRC, BTG1, ABI1, BTK, SSX1, SS18, STAG2, STAT3, STAT4, STAT5B, STK11, AURKB, AURKA, BUB1B, SYK, TAF15, TAL1, TAL2, TCEA1, HNF1A, TCF12, TCF3, TCF7L2, TCL1A, TERT, TFE3, TFEB, TFG, TFRC, TGFBR2, NKX2-1, TMPRSS2, TNFAIP3, TNFRSF14, TNFRSF17, FAS, ZNF384, MED12, TOP1, TP53, TPM3, TPM4, TPR, TRIP11, TRRAP, TSC1, TSC2, U2AF1, USP6, KDM6A, VEGFA, VEGFB, VHL, EZR, WAS, NSD2, NSD3, CCN6, WRN, WT1, XPA, XPC, XPO1, YWHAE, ZBTB16, TRIM26, ZMYM2, ZNF217, KAT6A, PATZ1, EML4, CNBP, IKZF1, BCL11A, BCL11B, TLX3, BRD4, FBXO11, TFPT, CTCF, KMT2C, HERPUD1, ASPSCR1, CACNA1D, PRDM16, ARHGEF12, CIC, NSD1, CRLF2, MRTFA, RANBP17, RNF213, CALR, IKBKE, NIN, CARS, RBM15, CASP8, RUNX1T1, CBFA2T3, CBFB, CBL, CBLB, GPHN, NCKIPSD, ZNF331, PICALM, P2RY8, SETBP1, PDE4DIP, SS18L1, CCND1, CCND2, SEPT6, CCND3, CCNE1, CBLC, CRTC1, MLLT10, MAML2, TRIM33, CARD11, SUFU, ACSL6, FBXW7, CDC73, UBR5, CD74, CD79A, CD79B, MLLT11, CLP1, FGFR1OP, FNBP1, ERC1, ARHGAP26, DICER1, SUZ12, POT1, CDH1, CDH11, SPEN, KAT6B, CD274, GOPC, RABEP1, CDK4, CDK6, CDK8, VTI1A, ADGRA2, CDKN1B, AFF4, CDKN2A, CDKN2B, CDKN2C, ARID2, CDX2, EMSY, WIF1, PHF6, ASXL1, CEBPA, SETD2, RNF43, FCRL4, FEV, CNTRL, MSI2, KLHL6, PDCD1LG2, CCDC6, CAMTA1, CREB3L1, FIP1L1, CHEK1, CHIC2, SOCS1, CHN1, CCNB1IP1, SBDS, CANT1, SRGAP3, TRAF7, BRIP1, FANCL, BCOR, CLTC, CLTCL1, TTL, KIAA1549, COPB1, COX6C, THRAP3, ZRSR2, ELL, KEAP1, CREB1, CREBBP, HOOK3, CRKL, ACKR3, CREB3L2, WWTR1, KNL1, CDK12, CSF1R, CSF3R, ZNF521, TENT5C, DOT1L, CTLA4, CTNNA1, CTNNB1, BCORL1, CYLD, ZNF703, TET2, SDHAF2, PALB2, CRTC3, WDCP, CYP2D6, DAXX, AMER1, DDB2, DDIT3, DDR2, FLCN, DDX10, DDX5, DDX6, DEK, CHCHD7, RMI2, GID4, RICTOR, JAZF1, NUP93, TET1, TBL1XR1, SH2B3, MDS2, DNM2, DNMT3A, NUTM1, PBRM1, RPTOR, SPECC1, LRIG3, EBF1, EGFR, EIF4A2, ELF4, ELK4, ELN, EP300, EPHA3, EPHA5, EPHB1, EPS15, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ETV1, ETV4, ETV5, ETV6, MECOM, EWSR1, EXT1, EXT2, EZH2, ACSL3, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FGF10, FGF14, FGF19, FGF23, FGF3, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FH, FHIT, FLI1, FLT1, FLT3, FLT4, AKAP9, FOXO1, FOXO3, FOXP1, AKT1, AKT2, AKT3, MTOR, FSTL3, FUBP1, FUS, KDSR, GAS7, GATA1, GATA2, GATA3, ALK, GMPS, GNA11, GNA13, GNAQ, GNAS, GOLGA5, GPC3, LGR5, GRIN2A, GSK3B, H3F3A, H3F3B, HIST1H3B, HIST1H4I, HEY1, HGF, HIP1, HLF, MNX1, HMGA2, HMGA1, FOXA1, HNRNPA2B1, TLX1, HOXA11, HOXA13, HOXA9, HOXC11, HOXC13, HOXD11, HOXD13, HRAS, HSP90AA1, HSP90AB1, IDH1, IDH2, IGF1R, APC, BIRC3, IL2, IL21R, IL6ST, IL7R, INHBA, IRF4, IRS2, ITK, JAK1, JAK2, JAK3, JUN, KCNJ5, KDR, KIF5B, KIT, KLF4, KLK2, KRAS, MAFB, AR, ARAF, KTN1, AFF3, LASP1, LCK, LCP1, LHFPL6, LIFR, ARFRP1, LMO1, LMO2, LPP, LRP1B, LYL1, SMAD2, SMAD4, MAF, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, RHOH, MAX, MCL1, MDM2, MDM4, MEF2B, ARNT, MEN1, MET, CIITA, MITF, MLF1, MLH1, KMT2D, MLLT1, AFF1, MLLT3, AFDN, MLLT6, FOXO4, MN1, MPL, MRE11, SEPT9, MSH2, MSH6, MSN, MTCP1, MUC1, MUTYH, MYB, MYC, MYCL, MYCN, MYD88, MYH11, MYH9, ABL1, NACA, NBN, NCOA1, NCOA2, NCOA4, NDRG1, ABL2, NF1, NF2, NFE2L2, NFIB, NFKB2, NFKBIA, ATF1, NONO, CNOT3, NOTCH1, NOTCH2, NPM1, ATIC, ATM, NR4A3, NRAS, ATP1A1, NT5C2, NTRK1, NTRK2, NTRK3, NUMA1, NUP214, NUP98, ATP2B3, PAFAH1B2, PAK3, PAX3, PAX5, PAX7, PAX8, PBX1, SLC45A3, PCM1, PCSK7, PDCD1, PDGFB, PDGFRA, PDGFRB, PDK1, ATR, PER1, ATRX, PIK3CA, PIK3CG, PIK3R1, PIK3R2, PIM1, AXIN1, PLAG1, AXL, PML, PMS1, PMS2, PRRX1, PHOX2B, SEPT5, POLE, POU2AF1, POU5F1, PPARG, PPP2R1A, PRCC, PRDM1, PRF1, PRKAR1A, OLIG2, PRKDC, BAP1, BARD1, PSIP1, PTCH1, PTEN, PTPN11, PTPRC, RAC1, RAD21, RAD50, RAD51, RAD51B, RAF1, RALGDS, RAP1GDS1, RARA, RB1, KDM5A, BCL10, BCL2L11, RECQL4, BCL2L2, REL, RET, TRIM27, BCL3