Тест 51.
Синдромен интелектуален дефицит и изоставане в НПР

Характеристика на теста: (включва 3123 генa)

Основни характеристики на клиничния фенотип

Изоставането в невропсихичното развитие (ИНПР) представлява съществено забавяне в развитието по два или повече показателя: когниция, социално/личностно развитие, езиково/речево развитие, моторно/фино моторно развитие или в ежедневните активности. Умственото изоставане (УИ) засяга 1-3% от световната популация и се характеризира със значителен дефицит в интелектуалните способности и адаптацията. ИНПР/УИ могат да протичат самостоятелно или като част от синдроми, свързани с вродени малформации, заболявания от аутистичния спектър и/или епилепсия.

Основание за насочване: 

Тестът се препоръчва на всички пациенти с изоставане в развитието или умствено изоставане, протичащи самостоятелно или като част от синдроми, които не включват епилепсия. 

Интерпретиране на резултатите:

  • Установяването на точкови мутации и малки делеции/инсерции в гените от панела ще позволи поставянето на генетична диагноза Синдром на интелектуален дефицит и изоставане в НПР.

  • Наличие на големи делеции и инсерции не могат да бъдат установени с този метод. За установяването на такива се препоръчва комбинация с подходящ анализ за CNV (MLPA, aCGH).

  • Генетичният консултант ще интерпретира и отговори на всички Ви въпроси относно Вашия резултат.

Метод: Новогенерационно секвениране.

Методът включва двупосочно ДНК секвениране на всички кодиращи екзони и интрон-екзонни граници на прицелните гени. Лабораторията предлага Сангер-секвениране на единичен екзон или двойка екзони при родственици на пациента за определяне на носителския статус в случаите, когато мутацията е известна (Тест №182).

Чувствителност на метода: зависи от съдържанието на GC и АТ, както и от наличието на сегментно дуплицирани гени.

Какво включва тестът? 

  • Изолиране на ДНК и съхраняване на пробата.

  • Паралелно секвениране на прицелните гени.

  • Биоинформатичен анализ на секвенционните данни. За всеки пациент се анализират само данните за гена(ите) от интерес.

  • Оформяне на писмен резултат от генетичния тест.

  • Диагностична интерпретация на резултатите и генетично консултиране.

Биологичния материал: Венозна кръв или ДНК

За повече информация, моля прочете внимателно „Изисквания към биологичния материал и информация за транспортиране“.


A2ML1, AAAS, AARS2, AASS, ABAT, ABCA12, ABCA2, ABCA4, ABCA5, ABCB11, ABCB7, ABCC6, ABCC8, ABCC9, ABCD1, ABCD4, ABCG5, ABHD12, ABHD16A, ABHD5, ACAD10, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACBD6, ACD, ACE2, ACIN1, ACO2, ACOT7, ACOT9, ACOX1, ACOX2, ACP5, ACSF3, ACSL4, ACTA2, ACTB, ACTG1, ACTL6A, ACTL6B, ACVR1, ACY1, ADA, ADAM10, ADAM22, ADAMTS10, ADAMTS13, ADAMTS2, ADAMTSL2, ADAR, ADARB1, ADAT3, ADCY5, ADCYAP1, ADD3, ADGRG1, ADGRG4, ADGRG6, ADGRV1, ADK, ADNP, ADPRHL2, ADRA2B, ADSL, AFF2, AFF3, AFF4, AFG3L2, AFP, AGA, AGAP1, AGGF1, AGK, AGL, AGMO, AGO1, AGO2, AGPAT2, AGPS, AGRN, AGT, AGTR2, AGXT, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AIMP2, AIP, AIPL1, AIRE, AK1, AK2, AKAP17A, AKAP4, AKAP6, AKR1C2, AKR1D1, AKT1, AKT3, ALAD, ALDH18A1, ALDH1A3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALMS1, ALOX12B, ALOXE3, ALS2, ALX1, ALX3, ALX4, AMER1, AMMECR1, AMN, AMPD2, AMPH, AMT, ANG, ANK1, ANK2, ANK3, ANKH, ANKLE2, ANKRD11, ANKRD17, ANKS1A, ANO10, ANO3, ANO5, ANTXR1, AP1B1, AP1G1, AP1S1, AP1S2, AP2M1, AP2S1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APBB1, APC2, APOB, APOE, APOPT1, APP, APPL2, APTX, AQP7, AR, ARCN1, ARF1, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGAP31, ARHGAP35, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF2, ARHGEF4, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARIH1, ARL13B, ARL14EP, ARL2BP, ARL6, ARMC4, ARMC5, ARMC9, ARSA, ARSB, ARSE, ARSF, ARV1, ARVCF, ARX, ASAH1, ASB12, ASCC3, ASCL1, ASH1L, ASL, ASMT, ASMTL, ASNS, ASPA, ASPH, ASPM, ASS1, ASTN1, ASTN2, ASUN, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATCAY, ATIC, ATL1, ATM, ATN1, ATP10A, ATP11A, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP2B3, ATP2C2, ATP5E, ATP6AP1, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B1, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATP8B1, ATP9A, ATR, ATRIP, ATRNL1, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN3L, ATXN7, AUH, AURKA, AUTS2, AVP, AVPR2, AWAT2, B3GALNT2, B3GALT6, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B9D1, B9D2, BAZ1B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAS3, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCORL1, BCR, BCS1L, BDNF, BDP1, BEAN1, BEST1, BFSP2, BGN, BHLHA9, BICD2, BICRA, BIN1, BLM, BMP15, BMP2, BMP4, BMP8B, BMPER, BMPR1B, BOLA3, BPIFB6, BPTF, BRAF, BRAT1, BRCA1, BRCA2, BRD3, BRD4, BRIP1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BTK, BTRC, BUB1, BUB1B, BUB3, C10ORF11, C10ORF2, C11ORF80, C12ORF4, C12ORF57, C12ORF65, C16orf62, C19ORF12, C2CD3, C2ORF71, C3orf58, C4A, C4orf26, C5ORF42, C8ORF37, C9ORF72, CA2, CA4, CA5A, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA1S, CACNA2D1, CACNA2D2, CACNA2D3, CACNB4, CACNG2, CAD, CAMK2A, CAMK2B, CAMK2G, CAMK4, CAMKMT, CAMTA1, CANT1, CAP1, CAPN10, CAPN15, CAPRIN1, CAPZA2, CARS, CARS2, CASC5, CASK, CASP1, CASP2, CASP4, CASR, CAT, CAV1, CAV3, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC114, CCDC115, CCDC174, CCDC186, CCDC22, CCDC32, CCDC39, CCDC40, CCDC47, CCDC65, CCDC78, CCDC8, CCDC88A, CCDC88C, CCL11, CCNA2, CCNB3, CCND2, CCNO, CCT5, CD96, CD99, CDC40, CDC42, CDC42BPB, CDC45, CDC6, CDCA5, CDCA7, CDH11, CDH15, CDH2, CDH23, CDH3, CDHR1, CDK10, CDK11A, CDK13, CDK16, CDK19, CDK5R1, CDK5RAP2, CDK6, CDK8, CDKL3, CDKL5, CDKN1C, CDON, CDT1, CECR1, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP55, CEP57, CEP63, CEP83, CEP85L, CEP89, CERKL, CERS1, CFAP47, CFH, CFHR1, CFHR3, CFHR5, CFP, CGGBP1, CHAF1B, CHAMP1, CHAT, CHCHD10, CHD1, CHD2, CHD3, CHD4, CHD5, CHD6, CHD7, CHD8, CHKB, CHL1, CHM, CHMP1A, CHMP2A, CHMP2B, CHN1, CHRDL1, CHRM1, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNA7, CHRNB1, CHRNB2, CHRND, CHRNG, CHST14, CHST3, CHSY1, CHUK, CIB2, CIC, CISD2, CIT, CKAP2L, CLASP2, CLCF1, CLCN2, CLCN3, CLCN4, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN19, CLIC2, CLIP1, CLIP2, CLK2, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CLTC, CLTCL1, CMC4, CNGA1, CNGB1, CNKSR1, CNKSR2, CNNM2, CNOT1, CNOT2, CNOT3, CNPY3, CNTN2, CNTN3, CNTN4, CNTN6, CNTNAP1, CNTNAP2, COA3, COA5, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL18A1, COL1A1, COL1A2, COL25A1, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A3BP, COL4A4, COL4A6, COL5A1, COL6A1, COL6A3, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COLQ, COMP, COMT, COPB1, COPB2, COQ2, COQ4, COQ5, COQ8A, COQ9, CORO1A, COX10, COX14, COX15, COX6B1, COX7B, CP, CPA6, CPD, CPE, CPLX1, CPOX, CPQ, CPS1, CPT1A, CPT2, CPXCR1, CRADD, CRB1, CRB2, CRBN, CREBBP, CRH, CRK, CRKL, CRLF1, CRLF2, CRX, CRYAA, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYL1, CSDE1, CSF1R, CSF2RA, CSNK1G1, CSNK2A1, CSNK2B, CSPP1, CST3, CSTB, CSTF2, CTBP1, CTC1, CTCF, CTDP1, CTGF, CTNNA2, CTNNB1, CTNND1, CTNND2, CTNS, CTPS2, CTSA, CTSD, CTSF, CTSH, CTSK, CTTNBP2, CTU2, CUBN, CUL3, CUL4B, CUL7, CUX1, CUX2, CWC27, CWF19L1, CXorf56, CXorf58, CYB5R3, CYC1, CYFIP1, CYFIP2, CYP1B1, CYP24A1, CYP27A1, CYP2U1, CYP4F22, CYP7B1, D2HGDH, DAB1, DACH2, DACT1, DAG1, DAO, DARS, DARS2, DBT, DCAF17, DCC, DCHS1, DCHS2, DCP2, DCPS, DCTN1, DCX, DDB1, DDB2, DDC, DDHD1, DDHD2, DDOST, DDR2, DDX10, DDX11, DDX23, DDX3X, DDX53, DDX58, DDX59, DDX6, DEAF1, DECR1, DEGS1, DENND5A, DEPDC5, DGCR8, DGKH, DHCR24, DHCR7, DHDDS, DHFR, DHODH, DHPS, DHRSX, DHTKD1, DHX30, DHX32, DHX37, DIAPH1, DIAPH2, DIP2B, DIS3L2, DISC1, DISP1, DKC1, DLAT, DLD, DLG1, DLG2, DLG3, DLG4, DLGAP2, DLL1, DLL3, DLL4, DLX3, DLX5, DMD, DMP1, DMPK, DMXL2, DNA2, DNAAF3, DNAAF4, DNAJC12, DNAJC13, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DNMT3B, DOCK11, DOCK3, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DOM3Z, DONSON, DPAGT1, DPF1, DPF2, DPF3, DPH1, DPH2, DPM1, DPM2, DPM3, DPP6, DPYD, DPYS, DPYSL5, DRD2, DRD4, DSCAM, DSCR3, DSE, DSG4, DSPP, DST, DSTYK, DTNBP1, DUOX2, DUOXA2, DUSP6, DVL1, DVL3, DYM, DYNC1H1, DYNC1I2, DYNC2H1, DYRK1A, EARS2, EBF3, EBP, ECE1, ECEL1, ECHS1, ECM1, EDA, EDA2R, EDC3, EDN3, EDNRA, EDNRB, EED, EEF1A2, EEF1B2, EEF2, EFHC1, EFHC2, EFNB1, EFTUD2, EGR1, EGR2, EHMT1, EHMT2, EIF2A, EIF2AK1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A3, EIF4G1, EIF5A, ELAC2, ELK1, ELN, ELOVL4, ELOVL5, ELP2, EMC1, EMC10, EMG1, EML1, EMX2, EN2, ENOX2, ENPP1, ENTPD1, EOGT, EOMES, EP300, EPB41L1, EPC2, EPG5, EPHA5, EPHA7, EPM2A, EPPK1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERGIC3, ERLIN2, ERMARD, ESCO2, ESX1, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOC2, EXOC6B, EXOC7, EXOSC3, EXOSC8, EXT1, EXT2, EXTL3, EYA1, EYA4, EYS, EZH2, EZR, F5, F9, FA2H, FAAH2, FAH, FAM111A, FAM111B, FAM120C, FAM126A, FAM160B1, FAM161A, FAM177A1, FAM20A, FAM20C, FAM47B, FAM50A, FAM58A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FARSA, FARSB, FASN, FAT4, FBLN1, FBLN5, FBN1, FBN2, FBP1, FBRSL1, FBXL3, FBXL4, FBXO11, FBXO25, FBXO28, FBXO31, FBXO7, FBXO8, FBXW11, FBXW4, FDFT1, FDXR, FEM1B, FEZF1, FGA, FGD1, FGD4, FGF10, FGF12, FGF13, FGF14, FGF17, FGF23, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FH, FHL1, FIBP, FIG4, FKBP14, FKBP6, FKBPL, FKRP, FKTN, FLAD1, FLI1, FLII, FLNA, FLNB, FLRT3, FLT4, FLVCR1, FLVCR2, FMN2, FMR1, FOLH1, FOLR1, FOS, FOXC1, FOXC2, FOXE1, FOXE3, FOXF1, FOXG1, FOXH1, FOXI1, FOXL2, FOXN1, FOXP1, FOXP2, FOXP3, FOXP4, FOXRED1, FRA10AC1, FRAS1, FREM1, FREM2, FRMD4A, FRMD7, FRMPD4, FRRS1L, FRY, FSCN2, FTCD, FTL, FTO, FTSJ1, FUCA1, FUK, FUS, FUT8, FXN, FXR1, FXR2, FYCO1, FZD3, FZD6, G6PC3, G6PD, GAA, GAB3, GABBR2, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRE, GABRG2, GABRG3, GABRQ, GAD1, GAL, GALC, GALE, GALK1, GALNS, GALNT2, GALT, GAMT, GAN, GAS1, GAS8, GATA2, GATA4, GATA6, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GDF3, GDF5, GDF6, GDI1, GDI2, GDNF, GEMIN4, GEMIN5, GFAP, GFER, GFM1, GFPT2, GHR, GIGYF1, GIGYF2, GJA1, GJA3, GJA8, GJB1, GJB2, GJB3, GJB4, GJB6, GJC2, GK, GLA, GLB1, GLDC, GLE1, GLI2, GLI3, GLIS3, GLMN, GLO1, GLRA1, GLRA2, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMNN, GMPPA, GMPPB, GNA11, GNAI1, GNAI2, GNAI3, GNAL, GNAO1, GNAQ, GNAS, GNB1, GNB2, GNB5, GNE, GNPAT, GNPTAB, GNPTG, GNS, GON4L, GORAB, GOSR2, GOT2, GP1BB, GPAA1, GPC3, GPC4, GPC6, GPD2, GPHN, GPI, GPR101, GPR161, GPR179, GPRASP1, GPSM2, GPT2, GRB14, GRHL3, GRIA1, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM1, GRM5, GRM6, GRN, GRPR, GSE1, GSPT2, GSS, GSX2, GTF2E2, GTF2H5, GTF2I, GTF2IRD1, GTF3C3, GTPBP2, GTPBP3, GTPBP8, GUCA1B, GUCY2C, GUCY2D, GUSB, GYS2, H3F3A, H3F3B, HACE1, HADH, HADHA, HADHB, HAL, HARS, HARS2, HAUS7, HAX1, HBA1, HBA2, HCCS, HCFC1, HCN1, HCRT, HDAC1, HDAC2, HDAC4, HDAC6, HDAC8, HDX, HEATR5B, HECW2, HELLS, HEPACAM, HERC1, HERC2, HES7, HESX1, HEXA, HEXB, HFE, HGSNAT, HHAT, HIBCH, HID1, HINT1, HIRA, HIST1H1E, HIST1H4B, HIST1H4C, HIST1H4J, HIST3H3, HIVEP2, HK1, HLCS, HMBS, HMGA2, HMGB1, HMGB3, HMGCL, HMGCS2, HNF1B, HNF4A, HNMT, HNRNPA1, HNRNPA2B1, HNRNPD, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HOXA13, HOXC13, HOXD1, HOXD10, HOXD13, HPCA, HPD, HPDL, HPGD, HPRT1, HPS1, HPSE2, HR, HRAS, HS2ST1, HS6ST1, HS6ST2, HSD17B10, HSD17B4, HSD3B7, HSF4, HSPD1, HSPG2, HTR1A, HTRA1, HTRA2, HTT, HUWE1, HYAL1, HYDIN, HYLS1, IARS, IARS2, IBA57, IDH2, IDH3B, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFNAR2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IFT81, IGBP1, IGF1, IGF1R, IGF2, IGHMBP2, IGSF1, IHH, IKBKG, IL10, IL11RA, IL12A, IL12B, IL12RB2, IL17RD, IL1RAPL1, IL1RAPL2, IL23R, IL3RA, ILF2, IMPA1, IMPAD1, IMPDH1, IMPDH2, IMPG2, INF2, INO80, INPP4A, INPP5E, INPP5K, INPPL1, INSR, INTS1, INTS6, INTS6L, INTS8, INVS, IQCB1, IQSEC1, IQSEC2, IQSEC3, IRAK1, IREB2, IRF2BPL, IRF6, IRX5, ISCA2, ISPD, ITCH, ITFG2, ITGA3, ITGA4, ITGA7, ITGB6, ITIH6, ITM2B, ITPA, ITPR1, IVD, IYD, JAG1, JAGN1, JAK2, JAK3, JAKMIP1, JAM3, JARID2, JMJD1C, JPH3, KAL1, KANK1, KANSL1, KANSL2, KARS, KAT5, KAT6A, KAT6B, KAT8, KATNAL2, KATNB1, KBTBD13, KCNA1, KCNA2, KCNAB2, KCNB1, KCNC1, KCNC3, KCND1, KCND2, KCND3, KCNE1, KCNE1L, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNJ13, KCNJ6, KCNJ8, KCNK12, KCNK4, KCNK9, KCNMA1, KCNN2, KCNN3, KCNQ1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD1, KCTD17, KCTD3, KCTD7, KDM1A, KDM3B, KDM4B, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0196, KIAA0226, KIAA0586, KIAA1109, KIAA1279, KIAA2022, KIDINS220, KIF11, KIF14, KIF1A, KIF1B, KIF1BP, KIF1C, KIF21A, KIF21B, KIF22, KIF26B, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIRREL3, KISS1R, KIT, KLF1, KLF7, KLF8, KLHL15, KLHL21, KLHL34, KLHL4, KLHL40, KLHL7, KLLN, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, KRIT1, KRT16, KRT17, KRT18, KRT6A, KRT6B, KRT8, KRT81, KRT83, KRT86, KYNU, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE, LARGE1, LARP7, LARS, LARS2, LAS1L, LBR, LCA5, LDB3, LEMD3, LETM1, LFNG, LGI1, LGI4, LGR4, LHFPL3, LHX1, LHX3, LHX4, LIAS, LIG4, LIMK1, LIN7A, LINGO1, LINGO4, LINS, LINS1, LIPA, LIPN, LIPT1, LIPT2, LITAF, LMAN2L, LMBR1, LMBRD1, LMBRD2, LMNA, LMNB1, LMNB2, LMX1B, LNPK, LONP1, LOXHD1, LRAT, LRP1, LRP2, LRP4, LRP5, LRPPRC, LRRC32, LRRC6, LRRK1, LRRK2, LSS, LTBP2, LTBP3, LUZP2, LYRM7, LYST, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACC1, MACF1, MADD, MAF, MAFB, MAG, MAGEA11, MAGEB1, MAGEB10, MAGEB2, MAGEC1, MAGEC3, MAGED1, MAGED2, MAGEE2, MAGEL2, MAGI2, MAGIX, MAGT1, MAK, MAN1B1, MAN2B1, MANBA, MAOA, MAOB, MAP1B, MAP2K1, MAP2K2, MAP3K1, MAP3K15, MAP3K7, MAP7D3, MAPK1, MAPK10, MAPK8IP3, MAPKAPK5, MAPRE2, MAPT, MARS2, MASP1, MAST1, MAT1A, MATN3, MATR3, MBD5, MBNL3, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCM3AP, MCM9, MCOLN1, MCPH1, MDH2, MECP2, MECR, MED12, MED12L, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2A, MEF2C, MEFV, MEGF10, MEGF8, MEIS2, MELK, MEOX1, MERTK, MESP2, MET, METAP1, METTL23, METTL5, MFF, MFN2, MFRP, MFSD2A, MFSD8, MGAT2, MGAT4C, MGAT5B, MGME1, MGP, MIB1, MICU1, MID1, MID2, MINPP1, MIR17HG, MITF, MKKS, MKS1, MLC1, MLH1, MLX, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMGT1, MMP13, MMP21, MN1, MNX1, MOCS1, MOCS2, MOG, MOGS, MORC2, MORC4, MPDU1, MPDZ, MPI, MPL, MPLKIP, MPP5, MPP7, MPPED2, MPV17, MPZ, MRAP, MRE11, MRE11A, MRPS16, MRPS22, MRPS34, MSH2, MSH6, MSL2, MSL3, MSMO1, MSX1, MSX2, MT-ATP6, MTF1, MTFMT, MTHFD1, MTHFR, MTHFS, MTM1, MTMR1, MTMR14, MTMR2, MTMR8, MT-ND1, MT-ND4, MTO1, MTOR, MTPAP, MTR, MTRR, MTSS1L, MT-TK, MTTP, MT-TP, MUSK, MUT, MVK, MXRA5, MYBPC1, MYCN, MYD88, MYH10, MYH3, MYH6, MYH8, MYH9, MYL7, MYO1D, MYO1G, MYO1H, MYO5A, MYO5B, MYO7A, MYOCD, MYOT, MYT1, MYT1L, NAA10, NAA15, NAA20, NACC1, NADK2, NAGA, NAGLU, NAGPA, NAGS, NALCN, NANS, NARG2, NARS, NARS2, NBAS, NBEA, NBN, NCAPD2, NCAPG2, NCAPH, NCDN, NCKAP1, NDE1, NDN, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAB2, NECAP1, NECTIN1, NEDD4L, NEFH, NEFL, NEK1, NEK2, NELFA, NEMF, NEU1, NEUROD2, NEXMIF, NF1, NFASC, NFIA, NFIB, NFIX, NFU1, NGEF, NGF, NGFR, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NIPA1, NIPAL4, NIPBL, NKAP, NKX2-1, NKX2-5, NKX3-2, NLGN1, NLGN3, NLGN4X, NLRP3, NMNAT1, NNT, NOD2, NODAL, NOG, NONO, NOP10, NOP56, NOTCH1, NOTCH2, NOTCH3, NOVA2, NPAS4, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NPR3, NR0B1, NR1I3, NR2E3, NR2F1, NR2F2, NR4A2, NR5A1, NRAS, NRK, NRL, NRN1, NRROS, NRTN, NRXN1, NRXN2, NRXN3, NSD1, NSD2, NSDHL, NSF, NSMF, NSUN2, NT5C2, NT5C3A, NTM, NTNG1, NTNG2, NTRK1, NTRK2, NUBPL, NUDT2, NUFIP1, NUFIP2, NUP107, NUP188, NUP214, NUP62, NUP85, NUS1, NXF1, NXF2, NXF4, NXF5, NYX, OBSL1, OCA2, OCLN, OCRL, ODC1, ODF2L, OFD1, OGDH, OGT, OMG, OPA3, OPHN1, OPTN, OR5M1, ORC1, ORC4, ORC6, OSGEP, OTC, OTOGL, OTUD5, OTUD6B, OTUD7A, OTULIN, OTX2, OXCT1, OXR1, P2RY11, P2RY4, P2RY8, P3H1, P4HB, P4HTM, PABPC5, PABPN1, PACRG, PACS1, PACS2, PAFAH1B1, PAFAH1B3, PAH, PAK1, PAK2, PAK3, PALB2, PAM16, PANK2, PAPSS2, PARK2, PARK7, PARN, PARP1, PARP6, PARS2, PARVB, PASD1, PAX1, PAX2, PAX3, PAX6, PAX7, PAX8, PAX9, PBRM1, PBX1, PC, PCBD1, PCCA, PCCB, PCDH10, PCDH11X, PCDH12, PCDH15, PCDH18, PCDH19, PCDHB4, PCDHGC4, PCGF2, PCLO, PCNA, PCNT, PCYT1A, PCYT2, PDCD10, PDCD6IP, PDE10A, PDE11A, PDE4D, PDE6A, PDE6B, PDE6D, PDE6G, PDE8B, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PECR, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM2L1, PGM3, PGRMC1, PHACTR1, PHC1, PHF10, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA1, PHKA2, PHKG2, PHOX2B, PHYH, PI4KA, PIBF1, PIDD1, PIEZO2, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGK, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIK3C2A, PIK3C3, PIK3CA, PIK3R1, PIK3R2, PIK3R5, PIN4, PINK1, PISD, PITRM1, PITX2, PITX3, PJA1, PKD1L1, PKHD1, PLA2G6, PLAA, PLCB1, PLCE1, PLCXD1, PLEC, PLEKHG2, PLEKHG4, PLK4, PLOD1, PLOD2, PLOD3, PLP1, PLP2, PLPBP, PLXNA2, PLXNA3, PLXNB3, PLXND1, PMM2, PMP22, PMPCA, PMPCB, PMS2, PNKD, PNKP, PNP, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POC1B, POGLUT1, POGZ, POLA1, POLD1, POLG, POLG2, POLR1C, POLR1D, POLR2A, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PON2, PON3, PORCN, POU1F1, POU3F3, POU3F4, PPA2, PPARG, PPARGC1A, PPIL1, PPM1B, PPM1D, PPM1K, PPOX, PPP1CB, PPP1R12A, PPP1R15B, PPP1R1B, PPP1R21, PPP2CA, PPP2R1A, PPP2R2B, PPP2R2C, PPP2R5B, PPP2R5C, PPP2R5D, PPP3CA, PPT1, PQBP1, PRCD, PRDM12, PRDM16, PRDX4, PREPL, PRF1, PRICKLE1, PRICKLE2, PRICKLE3, PRKACA, PRKACB, PRKAG2, PRKAR1A, PRKAR1B, PRKCG, PRKD1, PRKN, PRKRA, PRMT7, PRMT9, PRNP, PRODH, PROK2, PROKR2, PROM1, PROP1, PROSC, PROX2, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH, PRPH2, PRPS1, PRR12, PRRG1, PRRG3, PRRT2, PRSS12, PRSS56, PRUNE1, PRUNE, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSMA7, PSMB8, PSMC5, PSMD10, PSMD12, PSPH, PTCH1, PTCH2, PTCHD1, PTDSS1, PTEN, PTF1A, PTH1R, PTHLH, PTPN11, PTPN21, PTPN22, PTPN23, PTPN4, PTPRT, PTRH2, PTRHD1, PTS, PUDP, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PVRL1, PVRL4, PYCR1, PYCR2, PYGL, QARS, QDPR, QKI, QRICH1, RAB11A, RAB11B, RAB14, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RABL2B, RABL6, RAC1, RAC3, RAD21, RAD50, RAD51, RAD51C, RAF1, RAI1, RALA, RALGAPA1, RALGDS, RANBP17, RANBP2, RAP1B, RAP1GDS1, RAPGEF1, RAPSN, RARB, RARS, RARS2, RASA1, RASA2, RASGEF1B, RAX, RB1, RBBP8, RBFOX1, RBL2, RBM10, RBM28, RBM8A, RBMX, RBP3, RBPJ, RD3, RDH12, RECQL4, REEP1, REEP2, RELN, RENBP, REPS2, RERE, REST, RET, RETREG1, REV3L, RFC2, RFT1, RFX3, RFX4, RFX6, RFX7, RGN, RGR, RGS7, RHD, RHEB, RHO, RHOBTB2, RIC1, RIMS1, RING1, RIPK4, RIPPLY2, RIT1, RLBP1, RLIM, RMND1, RMRP, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, RNF135, RNF168, RNF213, RNF216, RNF220, RNPC3, RNU4ATAC, RNU7-1, ROBO3, ROGDI, ROM1, ROR2, RORA, RORB, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPS19, RPS23, RPS6KA3, RPS6KA6, RRAS, RRM2B, RSPH1, RSPH3, RSPO4, RSPRY1, RSRC1, RTEL1, RTL9, RTN2, RTN4IP1, RTTN, RUBCN, RUNX1, RUNX1T1, RUNX2, RUSC2, RYR1, RYR2, RYR3, SACS, SAG, SALL1, SALL4, SAMD9, SAMD9L, SAMHD1, SARS, SARS2, SASS6, SAT1, SATB1, SATB2, SBDS, SBF1, SBF2, SC5D, SCAF4, SCAMP5, SCAPER, SCARB2, SCARF2, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCRIB, SCYL1, SDC2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHC, SDHD, SEC23A, SEC23B, SEC24D, SEC31A, SELENOI, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEMA4A, SEMA5A, SEPSECS, SERAC1, SERPINI1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SETDB2, SETMAR, SETX, SF3B4, SFXN4, SGCA, SGCE, SGPL1, SGSH, SH2B1, SH3PXD2B, SH3TC2, SHANK1, SHANK2, SHANK3, SHFM1, SHH, SHMT2, SHOC2, SHOX, SHROOM2, SHROOM4, SIAH1, SIGMAR1, SIK1, SIL1, SIM1, SIM2, SIN3A, SIN3B, SIX1, SIX3, SIX5, SIX6, SKI, SKIV2L, SLC12A2, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC23A2, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A38, SLC25A4, SLC25A5, SLC25A53, SLC25A6, SLC26A2, SLC26A4, SLC26A9, SLC27A4, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC2A3, SLC30A10, SLC30A9, SLC31A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC39A13, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC45A1, SLC46A1, SLC4A1, SLC4A10, SLC4A11, SLC4A4, SLC52A2, SLC52A3, SLC5A2, SLC5A5, SLC5A6, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A4, SLC6A5, SLC6A8, SLC6A9, SLC7A14, SLC7A7, SLC9A1, SLC9A6, SLC9A7, SLC9A9, SLITRK1, SLX4, SMAD3, SMAD4, SMARCA1, SMARCA2, SMARCA4, SMARCA5, SMARCAL1, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCD2, SMARCD3, SMARCE1, SMC1A, SMC3, SMCHD1, SMG8, SMG9, SMN1, SMO, SMOC1, SMPD1, SMPD4, SMS, SNAI2, SNAP25, SNAP29, SNCA, SNCB, SNIP1, SNORD118, SNRNP200, SNRPB, SNTG1, SNX10, SNX14, SNX27, SNX3, SOBP, SOD1, SON, SORL1, SOS1, SOS2, SOST, SOX10, SOX11, SOX17, SOX2, SOX3, SOX4, SOX5, SOX6, SOX8, SOX9, SPAG1, SPART, SPAST, SPATA5, SPATA5L1, SPATA7, SPECC1L, SPEG, SPEN, SPG11, SPG20, SPG21, SPG7, SPINK5, SPOCK1, SPOP, SPR, SPRED1, SPRED2, SPRTN, SPRY3, SPRY4, SPTAN1, SPTBN1, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRCAP, SRD5A3, SREBF2, SRGAP3, SRP54, SRPX2, SRRM2, SRY, SSR4, ST3GAL3, ST3GAL5, ST5, STAB2, STAG1, STAG2, STAMBP, STAR, STARD8, STAT1, STAT4, STAT5B, STIL, STIM1, STRA6, STRADA, STS, STT3A, STT3B, STUB1, STX11, STX1B, STX3, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SUPT16H, SURF1, SUZ12, SVBP, SYN1, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYP, SYT1, SYT14, SYT2, SYTL4, SYTL5, SZT2, TAB2, TACO1, TACR3, TAF1, TAF13, TAF1C, TAF2, TAF6, TAF7L, TANC2, TANGO2, TAOK1, TARDBP, TASP1, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBC1D7, TBC1D8B, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBL2, TBP, TBR1, TBX1, TBX15, TBX18, TBX2, TBX20, TBX22, TBX3, TBX4, TBX5, TBXAS1, TCEAL3, TCF12, TCF20, TCF4, TCF7L2, TCIRG1, TCN2, TCOF1, TCP10L2, TCTN1, TCTN2, TCTN3, TDGF1, TDP2, TECPR2, TECR, TEK, TELO2, TENM1, TENM3, TEPSIN, TERT, TET3, TF, TFAP2A, TFAP2B, TFB2M, TFE3, TFG, TG, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM1, TGM6, TH, THAP1, THOC2, THOC6, THPO, THRA, THRB, THUMPD1, TIMM50, TIMM8A, TINF2, TK2, TKFC, TKT, TKTL1, TLK2, TLR4, TLR8, TM4SF20, TMCO1, TMEM106B, TMEM126B, TMEM132E, TMEM135, TMEM138, TMEM165, TMEM216, TMEM222, TMEM231, TMEM237, TMEM240, TMEM260, TMEM47, TMEM5, TMEM67, TMEM70, TMEM94, TMLHE, TMPRSS6, TMPRSS9, TMTC3, TMX2, TNFSF11, TNFSF4, TNIK, TNK2, TNKS2, TNPO2, TNR, TNRC6B, TOE1, TOMM70, TOP3B, TOPORS, TOR1A, TP53, TP63, TP73, TPH2, TPK1, TPO, TPP1, TRAF3IP1, TRAF7, TRAIP, TRAK1, TRAPPC10, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC2L, TRAPPC4, TRAPPC6A, TRAPPC6B, TRAPPC9, TREM2, TREX1, TREX2, TRHR, TRIM32, TRIM37, TRIM8, TRIO, TRIP11, TRIP12, TRIP13, TRIT1, TRMT1, TRMT10A, TRNT1, TRPC5, TRPM1, TRPM3, TRPM7, TRPS1, TRPV4, TRRAP, TSC1, TSC2, TSC22D3, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSHZ3, TSPAN7, TSPAN8, TTBK2, TTC19, TTC21B, TTC37, TTC5, TTC7A, TTC8, TTI2, TTN, TTPA, TTR, TUB, TUBA1A, TUBA4A, TUBA8, TUBAL3, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TUFM, TULP1, TUSC3, TWIST1, TWIST2, TXNL4A, TXNRD2, TYMP, TYR, TYROBP, TYRP1, U2AF2, UBA1, UBA5, UBB, UBE2A, UBE2T, UBE2U, UBE3A, UBE3B, UBE4A, UBQLN2, UBR1, UBR4, UBR7, UBTF, UCHL1, UFC1, UFD1L, UFM1, UFSP2, UGDH, UGP2, UGT1A1, UMPS, UNC13A, UNC13D, UNC80, UPB1, UPF1, UPF2, UPF3A, UPF3B, UQCC2, UQCRB, UQCRC2, UQCRQ, UROC1, UROD, UROS, USB1, USH1C, USH1G, USH2A, USP18, USP27X, USP7, USP8, USP9X, UTP14A, UVSSA, VAMP1, VAMP2, VAMP7, VAPB, VARS, VARS2, VCP, VCX3A, VDR, VHL, VIP, VIPAS39, VLDLR, VPS11, VPS13A, VPS13B, VPS33B, VPS35, VPS41, VPS4A, VPS50, VPS51, VPS53, VRK1, VSIG4, VSNL1, VSX2, WAC, WARS2, WAS, WASF1, WASHC4, WASHC5, WDFY3, WDPCP, WDR11, WDR13, WDR19, WDR26, WDR34, WDR35, WDR37, WDR4, WDR45, WDR45B, WDR60, WDR62, WDR73, WDR81, WDR83OS, WFS1, WHSC1, WIPF1, WIPI2, WNK3, WNT1, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WRAP53, WRN, WT1, WWC3, WWOX, WWP2, XIAP, XIST, XK, XKRX, XPA, XPC, XPNPEP3, XPR1, XRCC4, XYLT1, XYLT2, YAP1, YARS, YARS2, YIF1B, YIPF5, YWHAE, YWHAG, YY1, ZBTB11, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZBTB33, ZBTB40, ZC3H14, ZC4H2, ZCCHC12, ZCCHC8, ZDHHC15, ZDHHC9, ZEB2, ZFHX4, ZFP57, ZFX, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMIZ1, ZMPSTE24, ZMYM2, ZMYM3, ZMYM4, ZMYM5, ZMYM6, ZMYND11, ZMYND12, ZNF142, ZNF148, ZNF292, ZNF335, ZNF365, ZNF385B, ZNF407, ZNF408, ZNF41, ZNF423, ZNF425, ZNF44, ZNF462, ZNF513, ZNF526, ZNF582, ZNF589, ZNF592, ZNF599, ZNF630, ZNF668, ZNF674, ZNF699, ZNF711, ZNF713, ZNF778, ZNF81, ZSWIM6
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50 работни дни