| Desordenes hematologicos e inmunes | Eritrocitos (31 genes, BID01) | AMN, ANK1, C15orf41, CDAN1, COX4I2, CUBN, EGLN1, EPAS1, EPB42, EPOR, G6PD, GATA1, GIF, HBB, HBD, KIF23, KLF1, LPIN2, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, SEC23B, SH2B3, SPTA1, SPTB, VHL |
| Desordenes hematologicos e inmunes | Plaquetas, desordenes de la coagulacion (12 genes, BID02) | ADAMTS13, F10, F11, F12, F13A1, F2, F5, F8, SERPINC1, SERPINE1, VHL, VWF |
| Desordenes hematologicos e inmunes | Trombocitopenia (14 genes, BID03) | ADAMTS13, ETV6, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MPL, RBM8A, RUNX1, THBD, WAS |
| Desordenes hematologicos e inmunes | Sindromes de falla medular osea (37 genes, BID04) | BRCA2, BRIP1, CTC1, DKC1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, IFNG, LIG4, LYST, MRE11A, NBN, NHP2, NOP10, PALB2, PRF1, RAD51C, RTEL1, SBDS, SLX4, SRP72, STX11, STXBP2, TERC, TERT, TINF2, USB1, WAS, WRAP53, XRCC2 |
| Desordenes hematologicos e inmunes | Sindromes de falla medular osea, leucemia (5 genes, BID05) | CASP10, CEBPA, GATA1, NBN, RUNX1 |
| Desordenes hematologicos e inmunes | Sindromes de falla medular osea, metabolismo (4 genes, BID06) | SLC35C1, SLC37A4, SLC46A1, TCN2 |
| Desordenes hematologicos e inmunes | Deficiencias de anticuerpos (29 genes, BID07) | AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, DKC1, DNMT3B, ICOS, IGLL1, LRBA, LRRC8A, MS4A1, NFKB2, PIK3CD, PIK3R1, PRKCD, RTEL1, TCF3, TCF4, TNFRSF13B, TNFRSF13C, TNFSF12, UNG |
| Desordenes hematologicos e inmunes | Deficiencias del complemento (28 genes, BID08) | C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C8G, C9, CD46, CD59, CFB, CFD, CFH, CFHR1, CFHR3, CFI, CFP, FCN3, ITGB2, MBL2, SERPING1, THBD |
| Desordenes hematologicos e inmunes | Desordenes autoinflamatorios (24 genes, BID09) | CARD14, ELANE, IL10, IL10RA, IL10RB, IL1RN, IL21, IL21R, IL36RN, LPIN2, LRBA, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, RBCK1, SLC29A3, TNFRSF1A, TTC7A, XIAP |
| Desordenes hematologicos e inmunes | Disrregulacion inmune (24 genes, BID10) | AIRE, AOAH, AP3B1, CARD11, CASP10, CASP8, CD27, FAS, FASLG, FCGR2B, FOXP3, IL2RA, ITCH, ITK, LYST, PRF1, PRKCD, RAB27A, SH2D1A, STX11, STXBP2, TREX1, UNC13D, XIAP |
| Desordenes hematologicos e inmunes | Defectos de fagocitos (40 genes, BID11) | AP3B1, CD40, CD40LG, CEBPE, CSF3R, CTSC, CXCR2, CXCR4, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA1, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ISG15, ITGB2, JAGN1, LAMTOR2, MPO, NCF1, NCF2, NCF4, RAC2, SLC35C1, SLC37A4, SLC46A1, STAT1, TCIRG1, TCN2, TYK2, VPS45, WAS |
| Desordenes hematologicos e inmunes | Defectos de la inmunidad innata (18 genes, BID12) | AIRE, CARD9, CXCR4, GATA2, IL12B, IL12RB1, IL17F, IL17RA, IRAK4, MCM4, MYD88, NFKBIA, STAT1, STAT3, TIRAP, TMC6, TMC8, TRAF3IP2 |
| Desordenes hematologicos e inmunes | Inmunodeficiencias combinadas (48 genes, BID13) | ADA, AK2, CARD11, CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, IKBKB, IL12RB1, IL21, IL21R, IL2RG, IL7R, JAK3, LCK, LRBA, MAGT1, MALT1, MRP, NHEJ1, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, RHOH, RMRP, STIM1, STK4, TAP1, TAP2, TAPBP, TNFRSF4, UNC119, ZAP70 |
| Desordenes hematologicos e inmunes | Sindromes con inmunodeficiencias (37 genes, BID14) | ACP5, ADAR, ATM, BLM, CFH, CHD7, DNM2, DNMT3B, DOCK8, DSG1, FOXP3, MCM4, MRE11A, NBN, NLRP3, NOD2, PMS2, POLE, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, SAMHD1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, TAZ, TBX1, TREX1, TYK2, USB1, VPS13B, WAS, ZBTB24 |
| Ciliopatias | Discinesis ciliar primaria (34 genes, CIL01) | ARMC4, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYX1C1, GAS8, HEATR2, HYDIN, LRRC6, NME8, OFD1, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10 |
| Ciliopatias | Sindrome Joubert (28 genes, CIL02) | AHI1, ARL13B, B9D1, C5orf42, CC2D2A, CEP104, CEP164, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF7, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423 |
| Ciliopatias | Sindrome Bardet-Biedl (24 genes, CIL03) | ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, IFT172, IFT27, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC21B, TTC8, WDPCP |
| Ciliopatias | Sindrome Senior Loken (12 genes, CIL04) | CEP164, CEP290, IFT81, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19, ZNF423 |
| Enfermedades del tejido conectivo | Sindrome Stickler (5 genes, CTD01) | COL11A1, COL11A2, COL2A1, COL9A1, COL9A2 |
| Enfermedades del tejido conectivo | Enfermedades del tejido conectivo: Sindrome Ehlers-Danlos, Sindrome Marfan, Sindrome Loeys-Dietz, aneurisma aortico y diagnosticos diferenciales (44 genes, CTD02) | ABCC6, ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, GORAB, LTBP4, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 |
| Enfermedades de la piel | Albinismo oculocutaneo (8 genes, DRM01) | C10orf11, GPR143, LYST, MC1R, OCA2, SLC45A2, TYR, TYRP1 |
| Enfermedades de la piel | Albinismo sindromico y desordenes relacionados: Sindrome Hermansky-Pudlak, Sindrome Griscelli, Sindrome Waardenburg (9 genes, DRM02) | AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6 |
| Enfermedades de la piel | Hiperpigmentacion: Dowling-Degos y desordenes relacionados (32 genes, DRM03) | ABCB6, ADAM10, ADAR, BLM, EDN3, EDNRB, ENPP1, EPG5, HAMP, HFE, HFE2, KIT, KITLG, KRT14, KRT5, LYST, MITF, MLPH, MYO5A, NF1, NF2, PAX3, POFUT1, POGLUT1, PTPN11, RAB27A, SLC40A1, SNAI2, SOX10, SPRED1, STK11, TFR2 |
| Enfermedades de la piel | Ictiosis, keratoderma palmoplantar, y desordenes relacionados de la cornificacion (65 genes, DRM04) | AAGAB, ABCA12, ABHD5, ALDH3A2, ALMS1, ALOX12B, ALOXE3, AP1S1, AQP5, ATP2A2, ATP2C1, CARD14, CDSN, CERS3, CLDN1, CSTA, CTSC, CYP4F22, DSG1, DSP, EBP, ELOVL4, ENPP1, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GJB6, GTF2H5, JUP, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT6C, KRT9, LIPN, LOR, MBTPS2, NIPAL4, NSDHL, PHYH, PNPLA1, POMP, RHBDF2, SERPINB7, SLC27A4, SLURP1, SNAP29, SPINK5, ST14, STS, SUMF1, TAT, TGM1, TGM5, TRPV3, VPS33B, WNT10A |
| Enfermedades de la piel | Epidermolisis bullosa y desordenes ampollosos geneticos relacionados (19 genes, DRM05) | COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC |
| Enfermedades de la piel | Enfermedades de tejido conectivo: Sindrome Ehlers-Danlos, Sindrome Marfan, Sindrome Loeys-Dietz, aneurisma toracico aortico y desordenes relacionados (44 genes, DRM07) | ABCC6, ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, GORAB, LTBP4, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 |
| Enfermedades de la piel | Displasia ectodermica, agenesia dental selectiva, tricotiodistrofia e hipotricosis (55 genes, DRM08) | ANTXR1, APCDD1, AXIN2, BANF1, BCS1L, CDH3, CDSN, CTSC, CYP26C1, DLX3, DSG4, DSP, EDA, EDAR, EDARADD, FGF10, FGFR2, FGFR3, GJA1, GJB6, GRHL2, GTF2H5, HOXC13, HR, IFT122, IFT43, KCTD1, KRT14, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LPAR6, MPLKIP, MSX1, NFKBIA, OFD1, PIGL, PKP1, PORCN, PVRL1, PVRL4, SHOC2, SNRPE, SOX18, ST14, TP63, TRPS1, TWIST2, UBR1, WDR19, WDR35, WNT10A |
| Enfermedades de la piel | Disqueratosis congenita (10 genes, DRM09) | CTC1, DKC1, NHP2, NOP10, RTEL1, TERC, TERT, TINF2, USB1, WRAP53 |
| Enfermedades de la piel | Fotodermatosis: Xeroderma pigmentosa, Sindrome Cockayne, Sindrome COFS y desordenes relacionados (45 genes, DRM10) | AKT1, ATM, AXIN2, BLM, CTC1, CYLD, DDB2, DKC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FERMT1, FLCN, GTF2H5, MLH1, MSH2, MSH6, NF1, NF2, NHP2, NOP10, PDGFRB, PIK3CA, PMS2, POLH, PRKAR1A, PTCH1, PTEN, RECQL4, RHBDF2, RTEL1, SDHB, SDHD, STK11, TERC, TERT, TINF2, TSC1, TSC2, WRAP53, XPA, XPC |
| Enfermedades de la piel | Neurofibromatosis/ Schwannomatosis (23 genes, DRM11) | A2ML1, AKT3, BRAF, CBL, CCND2, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PIK3CA, PIK3R2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1, STAMBP |
| Enfermedades de la piel | Desordenes vasculares: telangiectasia hereditaria hemorragica, malformaciones cavernosas cerebrales, asociacion con MoyaMoya, y desordenes relacionados (18 genes, DRM12) | ACVRL1, CCBE1, CCM2, ENG, FAT4, FLT4, FOXC2, GATA2, GDF2, GJC2, KIF11, KRIT1, PDCD10, RASA1, SERPING1, SOX18, TREX1, VEGFC |
| Enfermedades de la piel | Sindromes de Progeria and Lipodistrofias (18 genes, DRM13) | ALDH18A1, B4GALT7, BANF1, BLM, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, LMNA, POLD1, PTDSS1, PYCR1, RECQL4, WRN, ZMPSTE24 |
| Hipoacusia | Hipoacusia, no sindromica, autosomica recesiva y ligada al X (71 genes, EAR01) | ADCY1, BDP1, BSND, CABP2, CDC14A, CDH23, CIB2, CLDN14, CLIC5, COL11A2, COL4A6, DCDC2, DFNB31, DFNB59, EPS8, EPS8L2, ESPN, ESRRB, FAM65B, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRXCR1, GRXCR2, HGF, ILDR1, KARS, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PDZD7, PNPT1, POU3F4, PRPS1, PTPRQ, RDX, S1PR2, SERPINB6, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WBP2 |
| Hipoacusia | Hipoacusia, no sindromica, autosomica dominante y ligada al X (40 genes, EAR02) | ACTG1, CCDC50, CD164, CEACAM16, COCH, COL11A2, COL4A6, CRYM, DFNA5, DIABLO, DIAPH1, DIAPH3, DSPP, ESPN, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, KITLG, MIR96, MYH14, MYH9, MYO6, MYO7A, OSBPL2, P2RX2, POU3F4, POU4F3, PRPS1, SLC17A8, SMPX, TBC1D24, TECTA, TJP2, TMC1, TMC2, TNC, WFS1 |
| Hipoacusia | Hipoacusia sindromica (80 genes, EAR03) | ABHD12, AIFM1, ALMS1, ANKH, ATP6V1B1, BCAP31, BCS1L, BSND, C10ORF2, CACNA1D, CATSPER2, CD151, CDH23, CDKN1C, CHD7, CHSY1, CIB2, CISD2, CLPP, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, DFNB31, DNMT1, EDN3, EDNRB, EXOSC2, EYA1, FGF3, FOXI1, GATA3, GPR98, GPSM2, HARS, HARS2, HOXB1, HSD17B4, KCNE1, KCNJ10, KCNQ1, KITLG, LARS2, MANBA, MITF, MYH9, MYO7A, NDP, NLRP3, PAX3, PCDH15, PDZD7, PEX1, PEX6, POLR1C, POLR1D, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SLC26A4, SLITRK6, SNAI2, SOX10, SPATA5, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH1G, USH2A, WFS1 |
| Epilepsia | Epilepsia familial e idiopatica (29 genes, EPI01) | ALDH7A1, CACNA1A, CHRNA2, CHRNA4, CHRNB2, DEPDC5, GABRA1, GABRB3, GABRG2, GRIN2A, KCNA1, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, MTOR, NPRL2, NPRL3, PCDH19, PRRT2, RELN, RORB, SCN1A, SCN1B, SCN2A, SCN8A, SLC1A3, SLC2A1, STX1B, TBC1D24 |
| Epilepsia | Epilepsia y retraso en el desarrollo (incluye Encefalopatia Epilepticas) (97 genes, EPI02) | AARS, ALDH7A1, ALG13, AMT, AP3B2, ARHGEF9, ARV1, ARX, BRAT1, CACNA1A, CAD, CASK, CDKL5, CHD2, CLCN4, CNNM2, DDX3X, DENND5A, DNM1, DOCK7, EEF1A2, FGF12, FOXG1, FRRS1L, GABRA1, GABRB1, GABRB2, GABRB3, GAMT, GLDC, GNAO1, GNB1, GRIN1, GRIN2A, GRIN2B, GRIN2D, HACE1, HCN1, HNRNPU, IQSEC2, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, KIAA2022, MBD5, MBOAT7, MDH2, MECP2, MEF2C, MOCS1, MOCS2, NECAP1, PACS2, PCDH19, PIGA, PLCB1, PLPBP, PNKP, PNPO, POLG, PURA, QARS, ROGDI, SCN1A, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBA5, UBE3A, WDR45, WWOX, ZEB2 |
| Epilepsia | Epilepsia mioclonica progresiva y Lipofuscinosis Neuronal Ceroide (28 genes, EPI05) | AFG3L2, ASAH1, ATP13A2, CARS2, CERS1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, GOSR2, GRN, KCNC1, KCTD7, LMNB2, MFSD8, NEU1, NHLRC1, PPT1, PRDM8, PRICKLE1, SCARB2, SERPINI1, TPP1 |
| Epilepsia | Deficiencia del ancla GPI con o sin hiperfosfatasia (13 genes, EPI12) | PGAP1, PGAP2, PGAP3, PIGA, PIGG, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY |
| Epilepsia | Migraña (9 genes, EPI14) | ATP1A2, ATP1A3, CACNA1A, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1 |
| Epilepsia | Hiperekplexia Hereditaria (3 genes, EPI15) | GLRA1, GLRB, SLC6A5 |
| Epilepsia | Epilepsia Metabolica/Mitocondrial (100 genes, EPI19) | AARS2, ABAT, ABCC8, ACY1, ADCK3, ADK, ADSL, ALDH5A1, ALDH7A1, AMT, ATIC, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BTD, CAD, CARS2, CNNM2, COQ4, COX8A, CPT1A, CPT2, D2HGDH, DARS2, DBT, DHFR, DLD, DNM1L, DPYD, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FOLR1, FOXRED1, GAMT, GATM, GCDH, GCH1, GCK, GCSH, GFM1, GLDC, GLUD1, GLUL, GPHN, HADH, HLCS, HPD, IDH2, INSR, ITPA, IVD, KCNJ11, L2HGDH, LIAS, MDH2, MLYCD, MMACHC, MOCS1, MOCS2, MT-ATP6 (m.8993T>G/C), MT-TK (m.8344A>G), MT-TL1 (m.3243A>G, m.3271T>C), MTHFR, NARS2, NDUFA1, PC, PCBD1, PCCA, PCCB, PDHA1, PDHX, PDSS2, PET100, PHGDH, PLPBP, PNPO, POLG, PSAT1, PSPH, PTS, QDPR, SDHA, SLC16A1, SLC19A3, SLC1A2, SLC25A1, SLC2A1, SLC46A1, SLC6A8, SLC6A9, SUOX, SURF1, TWNK, VARS2 |
| Enfermedades metabolicas | Desordenes congenitos de la glicosilacion (Sindrome CDG) (48 genes, MET01)
| ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, CAD, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, NUS1, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SLC39A8, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TMEM199, TUSC3 |
| Enfermedades metabolicas | Desordenes lisosomales (38 genes, MET02) | AGA, ARSA, ARSB, CTNS, CTSA, FUCA1, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LIPA, MAN1B1, MAN2B1, MANBA, MCOLN1, NAGA, NAGLU, NEU1, NPC1, NPC2, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, VPS33A |
| Enfermedades metabolicas | Desordenes de la biogenesis peroxisomal: Desordenes del espectro Zellweger (19 genes, MET03) | ABCD1, ACOX1, AMACR, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, SCP2 |
| Enfermedades metabolicas | Epelipsia dependiente de Piroxidina y acido folico (7 genes, MET04) | ALDH7A1, DHFR, FOLR1, MTHFR, PLPBP, PNPO, SLC46A1 |
| Enfermedades metabolicas | Desordenes del ciclo de la urea (8 genes, MET05) | ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15 |
| Enfermedades metabolicas | Encefalopatia por glicina (5 genes, MET06) | AMT, GCSH, GLDC, LIAS, SLC6A9 |
| Enfermedades metabolicas | Hiperfenilalaninemia (6 genes, MET07) | DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR |
| Enfermedades metabolicas | Enfermedad de orina con olor a jaraba de arce y deficiencia de DLD (4 genes, MET08) | BCKDHA, BCKDHB, DBT, DLD |
| Enfermedades metabolicas | Cofactor molibdeno y deficiencia de sulfito oxidadasa (4 genes, MET09) | GPHN, MOCS1, MOCS2, SUOX |
| Enfermedades metabolicas | Acidemia metilmalonica (15 genes, MET10) | ABCD4, ACSF3, ALDH6A1, CD320, HCFC1, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MUT, SUCLA2, SUCLG1 |
| Enfermedades metabolicas | Aciduria 3-Metilglutaconica (6 genes, MET11) | AUH, CLPB, DNAJC19, OPA3, SERAC1, TAZ |
| Enfermedades metabolicas | Hipoglicemia Hiperinsulinemica (7 genes, MET12) | ABCC8, GCK, GLUD1, HADH, INSR, KCNJ11, SLC16A1 |
| Enfermedades metabolicas | Diabetes tipo MODY (Maturity-onset diabetes of the young) (12 genes, MET13) | ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1 |
| Enfermedades metabolicas | Desordenes del almacenamiento de glicogeno (23 genes, MET14) | AGL, ALDOA, ENO3, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4 |
| Enfermedades metabolicas | Desordenes de la oxidacion de acidos grasos (15 genes, MET15) | ACADM, ACADS, ACADSB, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADH, HADHA, HMGCL, HMGCS2, SLC22A5, SLC25A20 |
| Desordenes del desarrollo cerebral | Microcefalia e hipoplasia pontocerebelar (71 genes, BRN01) | AMPD2, ANKLE2, ASNS, ASPM, ATR, BRF1, CASK, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CLP1, DYRK1A, EIF2S3, EXOSC3, EXOSC8, FOXG1, GMNN, IER3IP1, KAT6A, KIF11, KNL1, MBD5, MCPH1, MFSD2A, NIN, NSMCE2, ORC1, ORC4, ORC6, PCLO, PHC1, PLK4, PNKP, PPP1R15B, PQBP1, QARS, RARS2, RBBP8, SASS6, SEPSECS, SLC1A4, SLC25A19, SMARCA2, SPATA5, STAMBP, STIL, TOE1, TRAIP, TRMT10A, TSEN15, TSEN2, TSEN34, TSEN54, TUBGCP4, TUBGCP6, VLDLR, VPS53, VRK1, WDR62, WDR73, ZNF335 |
| Desordenes del desarrollo cerebral | Desordenes de la migracion neuronal (72 genes, BRN02) | CTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, B3GALNT2, B3GNT1, CCND2, CDK5, COL4A1, COL4A2, CRADD, DAG1, DCHS1, DCX, DDX3X, DYNC1H1, EMX2, ERMARD, FAT4, FH, FKRP, FKTN, FLNA, GMPPB, GRIN1, GRIN2B, IER3IP1, ISPD, KATNB1, KIF1BP, KIF2A, KIF5C, LAMB1, LAMC3, LARGE, MEF2C, MTOR, NDE1, NEDD4L, OCLN, PAFAH1B1, PI4KA, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRUNE1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SHH, SIX3, TBC1D20, TMEM5, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, WDR81 |
| Desordenes del desarrollo cerebral | Espectro de holoproscenfefalia (9 genes, BRN03) | CDON, FGFR1, GLI2, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2 |
| Desordenes del desarrollo cerebral | Macrocefalia (53 genes, BRN04) | AKT2, AKT3, APC2, ASPA, ASXL2, BRAF, BRWD3, CCDC88C, CCND2, CRADD, CUL4B, DNMT3A, EED, EZH2, FIBP, GCDH, GFAP, GPC3, HEPACAM, HERC1, HRAS, HUWE1, IGF2, KPTN, KRAS, L1CAM, MAP2K1, MAP2K2, MED12, MLC1, MTOR, NFIX, NRAS, NSD1, PHF6, PIGA, PIGN, PIGT, PIK3CA, PIK3R2, PPP2R5B, PPP2R5C, PPP2R5D, PTCH1, PTEN, RAB39B, RIN2, RNF125, RNF135, SETD2, SOS1, STRADA, TBC1D7 |
| Desordenes del desarrollo cerebral | Leucodistrofia/Leucoencefalopatia (77 genes, BRN05) | AARS, AARS2, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, CSF1R, CTC1, CYP27A1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FUCA1, GALC, GBE1, GCDH, GFAP, GJC2, HEPACAM, HIKESHI, HSD17B4, HSPD1, HTRA1, IFIH1, L2HGDH, LMNB1, MLC1, NAXE, NOTCH3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLEKHG2, PLP1, POLR1C, POLR3A, POLR3B, PSAP, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SLC16A2, SLC17A5, SNORD118, SOX10, STN1, SUMF1, TREX1, TUBB4A, VPS11 |
| Desordenes del desarrollo cerebral | Sindrome Aicardi-Goutières (7 genes, BRN06) | ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 |
| Desordenes del desarrollo cerebral | Sindrome Cornelia de Lange (6 genes, BRN08) | HDAC8, NIPBL, RAD21, SMC1A, SMC3, UBE2A |
| Desordenes del desarrollo cerebral | Microangiopatias Cerebrales (12 genes, BRN09) | CCM2, COL4A1, COL4A2, CTC1, GLA, HTRA1, KRIT1, NOTCH3, PDCD10, SNORD118, STN1, TREX1 |
| Desordenes del desarrollo cerebral | Leucodistrofia/Leucoencefalopatia y diagnosticos diferenciales (131 genes, BRN10) | AARS, AARS2, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, APOPT1, ARSA, ASPA, BCAP31, BOLA3, CLCN2, COL4A1, COL4A2, CSF1R, CTC1, CYP27A1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, ERCC8, FA2H, FAM126A, FKRP, FKTN, FOLR1, FUCA1, GALC, GAN, GBE1, GCDH, GFAP, GJC2, GLA, GLB1, GLRX5, GMPPB, HEPACAM, HEXA, HIKESHI, HSD17B4, HSPD1, HTRA1, IBA57, IDS, IFIH1, ISCA2, KCNT1, KIF5A, L2HGDH, LAMA2, LARGE, LMNB1, LYRM7, MCOLN1, MLC1, MTFMT, NAXE, NDUFS1, NDUFV1, NEU1, NFU1, NOTCH3, NPC1, NPC2, OCLN, PC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PLA2G6, PLAA, PLEKHG2, PLP1, POLG, POLR1C, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPT1, PSAP, PSAT1, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHA, SDHAF1, SLC16A2, SLC17A5, SLC1A4, SLC25A12, SNORD118, SOX10, SPTAN1, STN1, SUMF1, SURF1, TPP1, TREM2, TREX1, TUBB4A, TUFM, TYMP, TYROBP, VPS11 |
| Desordenes del desarrollo cerebral | Sindrome Coffin-Siris (6 genes, BRN12) | ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, SOX11 |
| Enfermedades oculares | Sindrome Usher (14 genes, EYE01) | ABHD12, CDH23, CEP78, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A |
| Enfermedades oculares | Retinitis pigmentosa, autosomica dominante y ligada al X (28 genes, EYE02) | BEST1, CA4, CACNA1F, CRX, GUCA1B, HK1, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS |
| Enfermedades oculares | Retinitis pigmentosa, autosomica recesiva y ligada al X (60 genes, EYE03) | ABCA4, AGBL5, AHI1, ARL2BP, ARL6, BBS1, BBS2, BEST1, C2ORF71, C8ORF37, CACNA1F, CDHR1, CEP290, CERKL, CLN3, CNGA1, CNGB1, CRB1, CYP4V2, DHDDS, EYS, FAM161A, FLVCR1, GNAT1, GUCY2D, HGSNAT, IFT140, IFT172, IMPG2, KIZ, LRAT, MAK, MERTK, MFRP, NR2E3, NRL, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, PRPF31, RBP3, RDH12, REEP6, RGR, RHO, RLBP1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, SAG, SLC7A14, SPATA7, TULP1, USH2A |
| Enfermedades oculares | Acromatopsia (6 genes, EYE04) | 1.) CNGB3 (Ex. 10) |
| Enfermedades oculares | Acromatopsia (6 genes, EYE04) | 2.) ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H |
| Enfermedades oculares | Sindrome Bardet-Biedl (19 genes, EYE05) | ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CEP290, IFT172, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TTC8 |
| Enfermedades oculares | Ceguera nocturna estacionaria congenita (14 genes, EYE06) | CABP4, CACNA1F, GNAT1, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RBP4, RHO, SAG, SLC24A1, TRPM1 |
| Enfermedades oculares | Sindrome Joubert (31 genes, EYE07) | AHI1, ARL13B, ARMC9, B9D1, C2CD3, C5ORF42, CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF7, MKS1, NPHP1, OFD1, PDE6D, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423 |
| Enfermedades oculares | Aumaurosis congenita de Leber (22 genes, EYE08) | AIPL1, ALMS1, CEP290, CRB1, CRX, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, NMNAT1, OTX2, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 |
| Enfermedades oculares | Espectro de Sindrome Zellweger (Refsum/Zellweger/adrenoleucodistrofia neonatal) (15 genes, EYE10) | PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH |
| Enfermedades oculares | Sindrome Senior Loken (12 genes, EYE11) | CEP164, CEP290, IFT81, INVS, IFTIQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19, ZNF423 |
| Enfermedades oculares | Enfermedad de Stargardt y distrofias maculares (21 genes, EYE12) | ABCA4, BEST1, C1QTNF5, CDH3, CFH, CLN3, CNGB3, CRX, CTNNA1, DRAM2, ELOVL4, IMPG1, IMPG2, IRX1, MFSD8, PROM1, PRPH2, RP1L1, RPGR, TIMP3, TTLL5 |
| Enfermedades oculares | Distrofias de conos y bastones (39 genes, EYE13) | ABCA4, ADAM9, AIPL1, ALMS1, ATF6, C21ORF2, C2ORF71, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP78, CERKL, CNGA3, CNGB3, CNNM4, CRB1, CRX, GNAT2, GUCA1A, GUCY2D, KCNV2, NMNAT1, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH12, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5 |
| Enfermedades oculares | Desordenes de maculas en retina (10 genes, EYE14) | CHM, EFEMP1, PLA2G5, PRPH2, RDH5, RHO, RLBP1, RPE65, RS1, VPS13B |
| Enfermedades oculares | Vitreoretinopatias (Wagner syndrome/Norrie/Coats) (14 genes, EYE15) | ATOH7, BEST1, CAPN5, COL2A1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5, NDP, RCBTB1, TSPAN12, VCAN, ZNF408 |
| Enfermedades oculares | Sindrome Stickler (6 genes, EYE16) | COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 |
| Enfermedades oculares | Atrofia Óptica (incluye LHON (Neuropatia optica hereditaria de Leber) (15 genes, EYE17) | ACO2, AFG3L2, ANTXR1, C12ORF65, CISD2, DNM1L, FDXR, MFN2, MT-ND1, m.3460G>A; MT-ND4, m.11778G>A; MT-ND6, m.14484T>C, NR2F1, OPA1, OPA3, RTN4IP1, SLC25A46, SPG7, TIMM8A, TMEM126A, WFS1, YME1L1 |
| Enfermedades oculares | Albinismo oculocutaneo (8 genes, EYE18) | C10orf11, GPR143, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1 |
| Enfermedades oculares | Albinism sindromico (Hermansky-Pudlak/Waardenburg/Vici/Griscelli) (20 genes, EYE19) | AP3B1, BLOC1S3, BLOC1S6, DTNBP1, EDN3, EDNRB, EPG5, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MITF, MLPH, MYO5A, PAX3, RAB27A, SOX10, TYR |
| Enfermedades oculares | Malformaciones oculares (microftalmia/anoftalmia/nanoftalmia/coloboma) (32 genes, EYE20) | ABCB6, ALDH1A3, ATOH7, BCOR, BMP4, CHD7, FOXE3, FREM1, GDF3, GDF6, HCCS, HMX1, MAB21L2, MFRP, OTX2, PAX2, PAX6, PIGL, POMGNT1, PRSS56, RARB, RAX, RBP4, SHH, SIX6, SMOC1, SOX2, STRA6, TENM3, TMEM98, VAX1, VSX2 |
| Enfermedades oculares | Cataratas (58 genes, EYE21) | ABHD12, AGK, BCOR, BFSP1, BFSP2, CHMP4B, CLPB, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, EPG5, EPHA2, EYA1, FAM126A, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GJA3, GJA8, HSF4, LEMD2, LEPREL1, LIM2, LSS, MAF, MIP, MIR184, NDP, NHS, OCRL, OPA3, PAX6, PEX7, PITX3, PXDN, RAB3GAP1, RECQL4, SIL1, SIPA1L3, SLC16A12, TDRD7, VIM, VSX2, WRN |
| Enfermedades oculares | Displasia septo-optica (6 genes, EYE22) | FGFR1, HESX1, OTX2, PROKR2, SOX2, SOX3 |
| Enfermedades oculares | Glaucoma (12 genes, EYE23) | CYP1B1, FOXC1, FOXE3, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, TBK1, TEK, WDR36 |
| Enfermedades oculares | Distrofias corneales (21 genes, EYE24) | AGBL1, CHST6, COL17A1, COL8A2, CYP4V2, DCN, GSN, KRT12, KRT3, LOXHD1, OVOL2, PIKFYVE, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1, ZEB1, ZNF469 |
| Enfermedades oculares | Ectopia lentis (2 genes, EYE25) | ADAMTSL4, FBN1 |
| Enfermedades cardiacas | Cardiomiopatia, dilatada (43 genes, HRT01) | ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, DSP, EMD, EYA4, FKTN, GATAD1, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PDLIM3, PLN, PRDM16, RAF1, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL |
| Enfermedades cardiacas | Cardiomiopatia, hipertrofica (30 genes, HRT02) | ACTC1, ACTN2, ANKRD1, CALR3, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, LDB3, MYBPC3*, MYH6, MYH7*, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2*, TPM1, TTN, TTR, VCL |
| Enfermedades cardiacas | Cardiomiopatia, restrictiva (7 genes, HRT12) | ACTC1, BAG3, DES, MYH7, MYPN, TNNI3, TNNT2 |
| Enfermedades cardiacas | Cardiomiopatia de ventriculo izquierdo no compacto (LVNC) (11 genes, HRT03) | ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1 |
| Enfermedades cardiacas | Fibrilacion auricular y sindrome de QT corto (17 genes, HRT04) | ABCC9, CACNA1C, CACNA2D1, CACNB2, GJA5, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, NPPA, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A |
| Enfermedades cardiacas | Sindrome de QT largo (15 genes, HRT05) | AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 |
| Enfermedades cardiacas | Displasia arritmogenica de ventriculo derecho/ cardiomiopatia (ARVD/C) (13 genes, HRT06) | CTNNA3, DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN |
| Enfermedades cardiacas | Sindrome Brugada (13 genes, HRT07) | CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNJ8, SCN10A, SCN1B, SCN3B, SCN5A, TRPM4 |
| Enfermedades cardiacas | Taquicardia ventricular polimorfica catecolaminergica (CPVT), paroxistica/ fibrilacion ventricular idiopatica / taquicardia (10 genes, HRT08) | ANK2, CALM1, CALM2, CASQ2, DPP6, GNAI2, KCNJ2, RYR2, SCN5A, TRDN |
| Enfermedades cardiacas | Cardiopatias congenitas (44 genes, HRT09) | ACTC1, ACVR2B, CCDC11, CFC1, CHD7, CITED2, CRELD1, ELN, FLNA, FOXC1, FOXH1, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, IRX4, JAG1, LEFTY2, MED13L, MYH6, MYH7, NAA15, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NR2F2, PITX2, RBM10, SEMA3E, SMAD2, SMAD6, TAB2, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZFPM2, ZIC3 |
| Enfermedades cardiacas | RASopatias (23 genes, HRT10) | Síndrome Noonan, Síndrome Noonan-like, Síndrome Costello, Síndrome Cardiofaciocutáneo, Síndrome Legius, Síndrome LEOPARD, Neurofibromatosis tipo 1, Síndrome de Megalencefalia- Malformación capilar- polimicrogiria, Malfromación capilar- Malformación arteriovenosa, Síndrome de microcefalia- malformación capilar, Síndrome de megalencefalia-polimicrogiria-polidactilia-hidrocefalia: A2ML1, AKT3, BRAF, CBL, CCND2, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PIK3CA, PIK3R2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1, STAMBP |
| Enfermedades de canales ionicos | Ataxia Episodica (9 genes, ION01) | CACNA1A, CACNB4, KCNA1, SLC1A3, SLC2A1, FGF14, KCNQ2, SCN2A, ATP1A3 |
| Enfermedades de canales ionicos | Sindromes de dolor neuropatico (4 genes, ION06) | SCN9A, SCN10A, SCN11A, TRPA1 |
| Enfermedades de canales ionicos | Discinesis paroxisticas (7 genes, ION07) | PRRT2, SLC2A1, SCN8A, KCNMA1, PNKD, ADCY5, ATP1A3 |
| Enfermedades de canales ionicos | Hipertermia maligna (3 genes, ION10) | RYR1, CACNA1S, STAC3 |
| Enfermedades renales | Nefronoptisis (29 genes, KID01) | AHI1, ANKS6, ATXN10, CC2D2A, CEP164, CEP290, CEP83, CTNS, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, SLC41A1, TMEM216, TMEM67, TRAF3IP1, TTC21B, WDR19, WDR35, XPNPEP3, ZNF423 |
| Enfermedades renales | Enfermedad renal quistica (16 genes, KID02) | ANKS6, BICC1, ETFA, GANAB, HNF1B, INVS, LRP5, NPHP3, OFD1, PAX2, PKD1, PKD2, PKHD1, PMM2, SEC61A1, UMOD |
| Enfermedades renales | Enfermedad renal quistica (16 genes, KID02) | PKD1/PKD2 sequencing |
| Enfermedades renales | Disgenesia tubular renal (4 genes, KID03) | ACE, AGT, AGTR1, REN |
| Enfermedades renales | Displasia renal, agenesia renal, CAKUT (48 genes, KID04) | ALDH1A2, BICC1, BMP4, BMP7, CDC5L, CHD1L, DACH1, DSTYK, EYA1, FGF20, FIBP, FOXC1, FRAS1, FREM1, FREM2, GATA3, GDNF, GREM1, GRIP1, HNF1B, ITGA8, KIF14, NEK8, NPHP3, OSR1, PAX2, RET, ROBO2, SALL1, SDCCAG8, SIX1, SIX2, SIX5, SLIT2, SOX17, SPRY1, SRGAP1, TBC1D1, TBX18, TFAP2A, TNS3, TRAP1, UMOD, UPF3B, UPK3A, WNT4, WNT5A, WT1 |
| Enfermedades renales | Sindrome nefrotico (40 genes, KID05) | ACTN4, ADCK4, ANLN, APOE, APOL1, ARHGAP24, ARHGDIA, CD2AP, COQ2, COQ6, CRB2, CUBN, DGKE, EMP2, FAT1, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMB2, LMX1B, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PDSS2, PLCE1, PTPRO, SMARCAL1, TRPC6, TTC21B, WDR73, WT1, XPO5 |
| Enfermedades renales | Glomeruloesclerosis focal segmentaria (40 genes, KID06) | ACTN4, ADCK4, ANLN, APOL1, ARHGAP24, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, FBXW7, INF2, LAMA5, LAMB2, LMNA, LMX1B, MYH9, MYO1E, NPHP1, NPHP4, NPHS1, NPHS2, NXF5, PAX2, PDSS2, PLCE1, SYNPO, TRPC6, TTC21B, WT1 |
| Enfermedades renales | Sindrome Alport y desordenes de membrana basal glomerular (GBM) (7 genes, KID07) | CD151, COL4A3, COL4A4, COL4A5, FN1, MYH9, PXDN |
| Enfermedades renales | Deficiencia C1q (3 genes, KID08) | C1QA, C1QB, C1QC |
| Enfermedades renales | Acidosis tubular renal (9 genes, KID09) | ATP6V0A4, ATP6V1B1, BCS1L, CA2, OCRL, SLC4A1, SLC4A4, VIPAS39, VPS33B |
| Enfermedades renales | Sindrome Bartter y diagnosticos diferenciales (17 genes, KID10) | BSND, CASR, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, EGF, FXYD2, GNA11, INSR, KCNJ1, MAGED2, SLC12A1, SLC12A3, TRPM6 |
| Enfermedades renales | Raquitismo hipofosfatemica (15 genes, KID11) | ALPL, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FGF23, KL, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR |
| Enfermedades renales | Pseudohipoaldosteronismo (9 genes, KID12) | CUL3, HSD11B2, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4 |
| Enfermedades renales | Diabetes insipida nefrogenica (3 genes, KID13) | AQP2, AVP, AVPR2 |
| Enfermedades renales | Hiperoxaluria (3 genes, KID14) | AGXT, GRHPR, HOGA1 |
| Enfermedades renales | Sindrome hemolitico uremico atipico y diagnosticos diferenciales* (19 genes, KID15) | ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, DGKE, MMACHC, MMADHC, MUT, PIGA, PLG, THBD |
| Enfermedades renales | Aminoacidurias hereditaria primaria (8 genes, KID16) | SLC1A1, SLC2A2, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9 |
| Enfermedades renales | Sindrome Branchiootorenal (5 genes, KID17) | EYA1, SALL1, SIX1, SIX5, TFAP2A |
| Enfermedades renales | Sindrome Bardet-Biedl (30 genes, KID18) | ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CCDC28B, CEP164, CEP290, IFT172, IFT27, IFT74, KIF7, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TMEM67, TRAPPC3, TRIM32, TTC21B, TTC8, WDPCP |
| Enfermedades renales | Sindrome Joubert (39 genes, KID19) | AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, C5ORF42, CC2D2A, CELSR2, CEP104, CEP120, CEP164, CEP290, CEP41, CSPP1, EXOC8, HYLS1, INPP5E, KIAA0556, KIAA0586, KIAA0753, KIF7, MKS1, NPHP1, OFD1, PDE6D, PDPR, PIBF1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423 |
| Enfermedades renales | Sindrome Meckel (24 genes, KID20) | AHI1, B9D1, B9D2, CC2D2A, CEP120, CEP290, CEP55, CSPP1, KIAA0586, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, TXNDC15, WDPCP |
| Enfermedades renales | Sindrome Senior-Loken (11 genes, KID21) | CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19, ZNF423 |
| Enfermedades hepaticas | Colestasis familiar (8 genes, LIV01) | ABCB11, ABCB4, ABCG5, ABCG8, ATP8B1, DCDC2, MYO5B, NR1H4 |
| Enfermedades hepaticas | Hipercolanemia y desordenes de la sintesis de acidos biliares (11 genes, LIV02) | ABCD3, AKR1D1, AMACR, BAAT, CYP27A1, CYP7A1, CYP7B1, EPHX1, HSD3B7, SLC10A2, TJP2 |
| Enfermedades hepaticas | Deño en el transporte de hepatocitos y colangiocitos (8 genes, LIV03) | ABCC2, ATP7B, CFTR, CIRH1A, SERPINA1, VIL1, VIPAS39, VPS33B |
| Enfermedades hepaticas | Daño en la morfogenesis de organos (10 genes, LIV04) | CC2D2A, CLDN1, INVS, JAG1, NOTCH2, PKD2, PKHD1, RPGRIP1L, TMEM67, ZIC3 |
| Enfermedades hepaticas | Desordenes metabolicos de los hepatocitos, incluyendo tirosinemia, enfermedades de deposito lisosomal, hiperamonemia, sindrome de Shwachman-Diamond, desorden de la oxidacion de acidos grados y enfermedades peroxisomales (59 genes, LIV05) | ACADM, ACADVL, ADK, AGL, AGPAT2, ALAD, ALDOB, ASL, ASS1, BSCL2, CCDC115, COG1, COG6, COG7, CPS1, ETFA, ETFB, ETFDH, FAH, G6PC, GAA, GALE, GALT, GBE1, GYS2, IARS, KRT18, KRT8, LMNA, MPI, NGLY1, NR1H4, OTC, PEX1, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PMM2, PTRF, PYGL, SBDS, SLC37A4, SLC39A8, STT3B, TTC37 |
| Enfermedades hepaticas | Desordenes de deposito lisosomal (5 genes, LIV06) | GBA, LIPA, NPC1, NPC2, SMPD1 |
| Enfermedades hepaticas | Falla hepatica aguda recurrente (6 genes, LIV07) | DLD, EIF2AK3, HMGCL, LARS, NBAS, TRMU |
| Enfermedades hepaticas | Mitocondriopatias hepaticas (17 genes, LIV08) | BCS1L, C10orf2, CPT1A, CPT2, DGUOK, FARS2, GFM1, HADHA, MPV17, MRPS16, POLG, SCO1, SLC25A20, SUCLG1, TRMU, TSFM, TYMP |
| Mitocondriopatias | ADN mitocondrial (mtDNA) (37 genes, MIT01) | MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY |
| Mitocondriopatias | Oftalmoplegia progresiva externa (PEO/CPEO) (34 genes, MIT16) | ACO2, AUH, C10ORF2, C12ORF65, CISD2, DNA2, DNM1L, FH, ISCA2, KLC2, MFN2, MGME1, MTPAP, NDUFS1, NR2F1, OPA1, OPA3, POLG, POLG2, RNASEH1, RRM2B, RTN4IP1, RYR1, SLC19A3, SLC25A4, SLC25A46, SLC52A2, SPG7, TIMM8A, TK2, TMEM126A, TYMP, WFS1, YME1L1 |
| Mitocondriopatias | Sindrome Leigh (nuclear genes) (45 genes, MIT03) | AARS2, ACAD9, ADCK3, BCS1L, C12ORF65, COX10, COX15, COX8A, ECHS1, FOXRED1, GFM2, GYG2, HIBCH, IARS2, LIPT1, MFF, MPV17, MTFMT, NARS2, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, PDHA1, PDHB, PDSS2, PET100, SCO2, SDHA, SERAC1, SLC19A3, SLC25A46, SURF1, TACO1, TPK1, TSFM, TUFM |
| Mitocondriopatias | Encefalopatia mitocondrial / hepato(encefalo)patia mitocondrial (genes nucleares) (204 genes, MIT04) | AARS2, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ADCK3, AGK, AGL, AIFM1, ALDH4A1, ALDH6A1, AMACR, AMT, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, BTD, C10ORF2, C19ORF70, CA5A, CARS2, CCDC115, CDKL5, COA7, COASY, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX4I2, COX6B1, CPS1, CPT1A, CPT2, CYB5R3, CYP11B2, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DGUOK, DLAT, DLD, DNAJC19, DPAGT1, DPYD, EARS2, ECHS1, EIF2AK3, ERCC6, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FLAD1, FOXRED1, GAMT, GATM, GBE1, GCDH, GCK, GCSH, GFAP, GFER, GFM1, GK, GLDC, GLRX5, GLUD1, HADH, HADHA, HADHB, HCCS, HLCS, HMGCS2, HSD17B10, HSPD1, IARS, IBA57, IDH2, ISCA2, ITPA, KIF5A, L2HGDH, LAMP2, LARS, LIAS, LMBRD1, LRPPRC, LYRM7, MARS2, MCCC1, MCCC2, MFF, MICU1, MLYCD, MMAA, MMAB, MMADHC, MPV17, MRPS16, MRPS22, MRPS23, MTFMT, MTO1, MTPAP, MUT, NADK2, NAGS, NBAS, NFU1, NUBPL, OAT, OFD1, OPA1, OTC, PANK2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PLA2G6, PNPLA2, PNPT1, POLG, PTCD1, PUS1, PYGM, RARS2, RMND1, RRM2B, SAMHD1, SARS2, SBDS, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC33A1, SLC6A8, SPG20, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAZ, TFG, TIMM8A, TK2, TMEM70, TPK1, TRIT1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, XPNPEP3, YARS2 |
| Mitocondriopatias | Sindromes de deplecion y delecion de ADN mitocondrial (genes nucleares) (33 genes, MIT05) | AARS2, AGK, C10ORF2, C12ORF65, CHCHD10, DGUOK, DNA2, FBXL4, GFER, MFN2, MGME1, MPV17, NDUFS1, OPA1, OPA3, PARS2, POLG, POLG2, RNASEH1, RRM2B, SLC24A4, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, TFAM, TIMM50, TIMM8A, TK2, TMEM126A, TYMP, WFS1 |
| Mitocondriopatias | Desordenes de metabolismo del piruvato (genes nucleares) (9 genes, MIT06) | ATP5E, DLAT, DLD, MPC1, PDHA1, PDHB, PDHX, PDP1, TMEM70 |
| Mitocondriopatias | Deficiencia de fosforilacion oxidativa combinada (COXPD) (32 genes, MIT07) | AARS2, AIFM1, ATP5A1, C12ORF65, CARS2, EARS2, ELAC2, FARS2, GFM1, GTPBP3, LYRM4, MARS2, MIPEP, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NSUN3, PNPT1, RMND1, SFXN4, SLC25A26, TARS2, TRMT10C, TRMT5, TSFM, TUFM, TXN2, YARS2 |
| Mitocondriopatias | Deficiencia del complejo I (60 genes, MIT08) | AARS2, ACAD9, AIFM1, C10ORF2, ECI1, ECSIT, FOXRED1, GAD1, GPAM, HOGA1, IVD, LRPPRC, MGST3, MRRF, MTFMT, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NIPSNAP1, NIPSNAP3A, NPL, NUBPL, PHYH, PTCD1, SLC35G2, STXBP1, SUGCT, TMEM126B |
| Mitocondriopatias | Deficiencia del complejo II (6 genes, MIT09) | FOXRED1, ISCU, NFS1, SDHA, SDHAF1, SDHD |
| Mitocondriopatias | Deficiencia del complejo III (12 genes, MIT10) | BCS1L, CYC1, LYRM7, MT-CYB, NDUFS4, NFS1, TTC19, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ |
| Mitocondriopatias | Deficiencia del complejo IV (26 genes, MIT11) | AARS2, APOPT1, CEP89, COA3, COA5, COA6, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, ETHE1, FASTKD2, LRPPRC, MT-CO1, MT-CO2, MT-C03, MT-TL1, MT-TS1, PET100, SCO1, SCO2, SURF1, TACO1 |
| Mitocondriopatias | Deficiencia del complejo V (6 genes, MIT12) | ATP5A1, ATP5E, ATPAF2, MT-ATP6, MT-ATP8, TMEM70 |
| Mitocondriopatias | Deficiencia de CoQ10 y deficiencia de acil-CoA-deshidrogenasa (14 genes, MIT13) | ADCK3, ADCK4, ANO10, APTX, COQ2, COQ4, COQ6, COQ7, COQ9, ETFA, ETFB, ETFDH, PDSS1, PDSS2 |
| Mitocondriopatias | Aciduria metilglutaconica (MGA) (18 genes, MIT14) | AGK, ATP5E, ATPAF2, AUH, C19ORF70, CLPB, DNAJC19, HMGCL, HTRA2, MT-TL1, OPA3, POLG, SDHA, SERAC1, SUCLA2, TAZ, TIMM50, TMEM70 |
| Mitocondriopatias | Sindrome MELAS y MERRF (26 genes, MIT15) | MT-CO1, MT-CO2, MT-CYB, MT-ND1, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-NDUL, MT-TC, MT-TD, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, POLG |
| Mitocondriopatias | Mitocondriopatias por genes codificados nuclearmente (359 genes, MIT02) | AARS2, ABCB7, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ADCK3, ADCK4, AFG3L2, AGK, AGL, AIFM1, ALDH4A1, ALDH6A1, AMACR, AMPD1, AMT, ANO10, APOPT1, APTX, ATAD3A, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCAT2, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, C10ORF2, C12ORF65, C19ORF70, CA5A, CARS2, CCDC115, CDKL5, CEP89, CHCHD10, CISD2, CLPB, CLPP, COA3, COA5, COA6, COA7, COASY, COG8, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7B, COX8A, CPS1, CPT1A, CPT2, CYB5R3, CYC1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DBT, DDHD1, DGUOK, DHTKD1, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DPAGT1, DPYD, EARS2, ECHS1, ECI1, ECSIT, EIF2AK3, ELAC2, ERCC6, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GAD1, GAMT, GARS, GATM, GBE1, GCDH, GCK, GCSH, GDAP1, GFAP, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GNPAT, GPAM, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSPD1, HTRA2, IARS, IARS2, IBA57, IDH2, ISCA2, ISCU, ITPA, IVD, KIF5A, KLC2, L2HGDH, LAMP2, LARS, LARS2, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGME1, MGST3, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMADHC, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS23, MRRF, MTFMT, MTO1, MTPAP, MUT, NADK2, NAGS, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NIPSNAP1, NIPSNAP3A, NPL, NR2F1, NSUN3, NUBPL, NUP62, OAT, OFD1, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARP10, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PHYH, PIGQ, PLA2G6, PNPLA2, PNPLA4, PNPT1, POLG, POLG2, PPA2, PPOX, PTCD1, PUS1, PYCR1, PYGM, QRSL1, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RRM2B, RTN4IP1, RYR1, SAMHD1, SARS2, SBDS, SCO1, SCO2, SDHA, SDHAF1, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC24A4, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC25A46, SLC33A1, SLC35G2, SLC39A8, SLC52A2, SLC6A8, SPAST, SPG20, SPG7, STXBP1, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAZ, TFAM, TFG, TIMM50, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TSFM, TTC19, TUFM, TXN2, TYMP, UGT1A1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, WWOX, XPNPEP3, YARS2, YME1L1 |
| Enfermedades neurodegenerativas | Enfermedad de Parkinson, autosomica dominante (5 Genes, NDD01) | CHCHD2, GBA, LRRK2, SNCA, VPS35 |
| Enfermedades neurodegenerativas | Enfermedad de Parkinson, autosomica recesiva (10 Genes, NDD02) | ATP13A2, DNAJC6, FBXO7, PARK2 (PRKN), PARK7, PINK1, PLA2G6, SLC30A10, SYNJ1, VPS13C |
| Enfermedades neurodegenerativas | Enfermedad de Parkinson atipica (15 Genes, NDD03) | ATP13A2, ATP1A3, DCTN1, DNAJC6, FBXO7, FTL, GCH1, GRN, MAPT, PLA2G6, RAB39B, SLC30A10, SPG11, SYNJ1, TH |
| Enfermedades neurodegenerativas | Distonia-Parkinsonismo (11 Genes, NDD04) | ATP1A3, DNAJC12, GCH1, PLA2G6, PRKRA, SLC30A10, SLC39A14, SLC6A3, SPR, TAF1, TH |
| Enfermedades neurodegenerativas | Enfermedad de Parkinson (31 Genes, NDD05) | ATP13A2, ATP1A3, C19ORF12, CHCHD2, DCTN1, DNAJC6, FBXO7, FTL, GBA, GCH1, GRN, LRRK2, MAPT, PANK2, PARK2 (PRKN), PARK7, PINK1, PLA2G6, PRKRA, RAB39B, SLC30A10, SLC39A14, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, VPS13C, VPS35 |
| Enfermedades neurodegenerativas | Distonia de torsion primaria (8 Genes, NDD06) | ANO3, CIZ1, COL6A3, GNAL, HPCA, THAP1, TOR1A, TUBB4A |
| Enfermedades neurodegenerativas | Sindrome distonia Plus (13 Genes, NDD07) | ATP1A3, BCAP31, COX20, FTL, GCH1, KIF1C, PRKRA, SGCE, SLC30A10, SPR, TAF1, TH, TUBB4A |
| Enfermedades neurodegenerativas | Discinesia paroxistica (11 Genes, NDD08) | ADCY5, ATP1A3, CACNA1A, GCH1, KCNA1, KCNMA1, PARK2 (PRKN), PNKD, PRRT2, SCN8A, SLC2A1 |
| Enfermedades neurodegenerativas | Sindromes hereditarios degenerativas (37 Genes, NDD09) | ARSA, ATM, ATP13A2, ATP7B, AUH, C19ORF12, CLN3, CSF1R, CYP27A1, DCTN1, FBXO7, FTL, FUCA1, GCDH, HEPACAM, HEXA, HPRT1, HTT, MECP2, MLC1, NPC1, NPC2, NUP62, OPA3, PANK2, PARK2 (PRKN), PLA2G6, PLP1, SLC16A2, SLC19A3, SLC25A15, SLC30A10, SLC6A3, SMPD1, TAF1, VPS13A, WDR45 |
| Enfermedades neurodegenerativas | Distonia (40 Genes, NDD10) | ADAR, ADCY5, ANO3, ATM, ATP1A3, ATP7B, BCAP31, CACNA1B, CIZ1, COL6A3, DDC, DNAJC12, FA2H, FTL, GCDH, GCH1, GNAL, HPCA, KCNMA1, KMT2B, MECR, PANK2, PLA2G6, PNKD, PRKRA, PRRT2, SCN8A, SGCE, SLC19A3, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SPR, TH, THAP1, TOR1A, TUBB4A, VAC14, VPS13A |
| Enfermedades neurodegenerativas | Neurodegeneracion por acumulacion de hierro (NBIA) (10 Genes, NDD11) | ATP13A2, C19ORF12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45 |
| Enfermedades neurodegenerativas | Neuroacantocitosis (3 Genes, NDD12) | PANK2, VPS13A, XK, JPH3 análisis de repeticiones |
| Enfermedades neurodegenerativas | Desordenes del movimiento coreatetosico, analisis paso a paso: (7 Genes, NDD13) | ADCY5, ATM, FRRS1L, GNAO1, NKX2-1, PDE10A, PRNP, HTT |
| Enfermedades neurodegenerativas | Desordenes del movimiento coreatetosico, analisis paso a paso: (7 Genes, NDD13) | Paso 1: HTT, JPH3 análisis de repeticiones |
| Enfermedades neurodegenerativas | Desordenes del movimiento coreatetosico, analisis paso a paso: (7 Genes, NDD13) | Paso 2: Desórdenes del movimiento coreatetósico, (panel por NGS) |
| Enfermedades neurodegenerativas | Ataxia, autosomica dominante, analisis paso a paso: (25 Genes, NDD25) | AFG3L2, ATP1A3, CACNA1A, CACNA1G, CACNB4, CAMTA1, CCDC88C, EEF2, ELOVL4, ELOVL5, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG, SAMD9L, SLC1A3, SPG7, SPTBN2, TGM6, TMEM240, TTBK2, VAMP1 |
| Enfermedades neurodegenerativas | Ataxia, autosomica dominante, analisis paso a paso: (25 Genes, NDD25) | Paso 1: SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 analisis de repeticiones opcional |
| Enfermedades neurodegenerativas | Ataxia, autosomica dominante, analisis paso a paso: (25 Genes, NDD25) | Paso 2: Ataxia, autosómica dominante (panel NGS) |
| Enfermedades neurodegenerativas | Ataxia, autosomica recesiva y ligada al X, analisis paso a paso: (43 Genes, NDD26) | ADCK3 (COQ8A), AFG3L2, ANO10, APTX, ATCAY, ATM, ATP2B3, ATP8A2, CA8, CP, CWF19L1, FXN, GOSR2, GRID2, GRM1, HEXA, HEXB, KIAA0226 (RUBCN), KIF1C, MARS2, MRE11A (MRE11), NKX6-2, PLA2G6, PMPCA, PNKP, POLG, PRICKLE1, RNF216, SACS, SCYL1, SETX, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TPP1, TTPA, VLDLR, WDR81, WWOX |
| Enfermedades neurodegenerativas | Ataxia, autosomica recesiva y ligada al X, analisis paso a paso: (43 Genes, NDD26) | Paso 1: Análisis de repeticiones en gen FXN |
| Enfermedades neurodegenerativas | Ataxia, autosomica recesiva y ligada al X, analisis paso a paso: (43 Genes, NDD26) | Paso 2: Ataxia, autosómica recesiva y ligada al X (panel NGS) |
| Enfermedades neurodegenerativas | Ataxia episodica (4 Genes, NDD30) | CACNA1A, CACNB4, KCNA1, SLC1A3 |
| Enfermedades neurodegenerativas | Ataxia y diagnosticos diferenciales, analisis paso a paso: (101 Genes, NDD14) | ABCB7, ABHD12, ADCK3 (COQ8A), AFG3L2, ANO10, APTX, ARSA, ATCAY, ATM, ATP1A3, ATP2B3, ATP8A2, C10ORF2 (TWNK), CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CCDC88C, CLCN2, CP, CWF19L1, CYP27A1, DARS2, DNAJC5, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, FGF14, FLVCR1, FOLR1, FXN, GBA2, GFAP, GOSR2, GRID2, GRM1, HEXA, HEXB, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226 (RUBCN), KIF1C, MARS2, MRE11A (MRE11), MTTP, NKX2‑1, NKX6‑2, NPC1, NPC2, PAX6, PDYN, PEX7, PHYH, PLA2G6, PMPCA, PNKP, PNPLA6, POLG, POLR3A, PRICKLE1, PRKCG, PRRT2, RNF170, RNF216, SACS, SAMD9L, SCYL1, SETX, SIL1, SLC1A3, SLC2A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TGM6, TMEM240, TPP1, TTBK2, TTC19, TTPA, VAMP1, VLDLR, VRK1, WDR81, WFS1, WWOX |
| Enfermedades neurodegenerativas | Ataxia y diagnosticos diferenciales, analisis paso a paso: (101 Genes, NDD14) | Paso 1A: repeticiones SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 |
| Enfermedades neurodegenerativas | Ataxia y diagnosticos diferenciales, analisis paso a paso: (101 Genes, NDD14) | Paso 1B: Análisis de repeticiones en FXN |
| Enfermedades neurodegenerativas | Ataxia y diagnosticos diferenciales, analisis paso a paso: (101 Genes, NDD14) | Step 2: Ataxia y diagnósticos diferenciales (panel NGS) |
| Enfermedades neurodegenerativas | Demencia Frontotemporal (FTD), analisis paso a paso: (17 Genes, NDD15) | CHCHD10, CHMP2B, CSF1R, FUS, GRN, ITM2B, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VCP |
| Enfermedades neurodegenerativas | Demencia Frontotemporal (FTD), analisis paso a paso: (17 Genes, NDD15) | Paso 1: análisis de repeticiones en C9ORF72 |
| Enfermedades neurodegenerativas | Demencia Frontotemporal (FTD), analisis paso a paso: (17 Genes, NDD15) | Paso 2: Demencia Frontotemporal (FTD) (panel NGS) |
| Enfermedades neurodegenerativas | Enfermedad de Alzheimer (analisis completo), incluyendo: (4 Genes, NDD16) | APOE, APP, PSEN1, PSEN2 |
| Enfermedades neurodegenerativas | Enfermedad de Alzheimer (analisis completo), incluyendo: (4 Genes, NDD16) | Paso 1: análisis de repeticiones en C9ORF72 |
| Enfermedades neurodegenerativas | Enfermedad de Alzheimer (analisis completo), incluyendo: (4 Genes, NDD16) | PAso 2: Enfermedad de Alzheimer (panel NGS) |
| Enfermedades neurodegenerativas | Demencia analisis paso a paso: (18 Genes, NDD17) | APOE, APP, CHCHD10, CHMP2B, CSF1R, GRN, ITM2B, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VCP |
| Enfermedades neurodegenerativas | Demencia analisis paso a paso: (18 Genes, NDD17) | Paso 1: análisis de repeticiones en C9ORF72 |
| Enfermedades neurodegenerativas | Demencia analisis paso a paso: (18 Genes, NDD17) | Paso 2: Demencia (panel NGS) |
| Enfermedades neurodegenerativas | Esclerosis lateral amiotrofica (ELA), analisis paso a paso: (22 Genes, NDD18) | ALS2, ANG, CHCHD10, CHMP2B, DCTN1, FIG4, FUS, HNRNPA1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP |
| Enfermedades neurodegenerativas | Esclerosis lateral amiotrofica (ELA), analisis paso a paso: (22 Genes, NDD18) | Paso 1: análisis de repeticiones en C9ORF72 |
| Enfermedades neurodegenerativas | Esclerosis lateral amiotrofica (ELA), analisis paso a paso: (22 Genes, NDD18) | Paso 2: Esclerosis lateral amiotrófica (ELA) (panel NGS) |
| Enfermedades neurodegenerativas | Paraplegia espastica hereditaria (HSP), autosomica dominante (12 Genes, NDD27) | ALDH18A1, ATL1, BSCL2, HSPD1, KIAA0196 (WASHC5), KIDINS220, KIF5A, NIPA1, REEP1, REEP2, RTN2, SPAST |
| Enfermedades neurodegenerativas | Paraplegia espastica hereditaria (HSP), autosomica recesiva y ligadal al X (31 Genes, NDD28) | ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, B4GALNT1, C12ORF65, CAPN1, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, KIF1A, L1CAM, MAG, NT5C2, PLP1, PNPLA6, REEP2, SPG11, SPG20 (SPART), SPG21, SPG7, TECPR2, TFG, ZFYVE26 |
| Enfermedades neurodegenerativas | Paraplegia espastica hereditaria (HSP), todas (51 Genes, NDD20) | AFG3L2, AIMP1, ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, B4GALNT1, BSCL2, C12ORF65, CAPN1, CYP2U1, CYP7B1, DDHD1, DDHD2, DSTYK, ERLIN2, FA2H, GALC, GBA2, HSPD1, KIAA0196 (WASHC5), KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, MAG, NIPA1, NKX6-2, NT5C2, PLA2G6, PLP1, PNPLA6, REEP1, REEP2, RTN2, SACS, SLC16A2, SPAST, SPG11, SPG20 (SPART), SPG21, SPG7, TECPR2, TFG, TUBB4A, ZFYVE26 |
| Enfermedades neurodegenerativas | Lipofuscinosis neuronal ceroide (NCL) (13 Genes, NDD21) | ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1 |
| Enfermedades neurodegenerativas | Leucodistrofia y leucoencefalopatia (78 Genes, NDD29) | AARS, AARS2, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, APOA1BP (NAXE), ARSA, ASPA, BCAP31, C11ORF73 (HIKESHI), CLCN2, CSF1R, CTC1, CTSA, CYP27A1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FUCA1, GALC, GBE1, GCDH, GFAP, GJC2, HEPACAM, HSD17B4, HSPD1, HTRA1, IFIH1, L2HGDH, LMNB1, MLC1, NOTCH3, OBFC1 (STN1), PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLEKHG2, PLP1, POLR1C, POLR3A, POLR3B, PSAP, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SLC16A2, SLC17A5, SNORD118, SOX10, SUMF1, TREX1, TUBB4A, VPS11 |
| Enfermedades neurodegenerativas | Leucodistrofia/Leucoencefalopatia y diagnosticos diferenciales (133 Genes, NDD22) | AARS, AARS2, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, APOA1BP (NAXE), APOPT1, ARSA, ASPA, BCAP31, BOLA3, C11ORF73 (HIKESHI), CLCN2, COL4A1, COL4A2, CSF1R, CTC1, CTSA, CYP27A1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, ERCC8, FA2H, FAM126A, FKRP, FKTN, FOLR1, FUCA1, GALC, GAN, GBE1, GCDH, GFAP, GJC2, GLA, GLB1, GLRX5, GMPPB, HEPACAM, HEXA, HSD17B4, HSPD1, HTRA1, IBA57, IDS, IFIH1, ISCA2, KCNT1, KIF5A, L2HGDH, LAMA2, LARGE (LARGE1), LMNB1, LYRM7, MCOLN1, MLC1, MTFMT, NDUFS1, NDUFV1, NEU1, NFU1, NKX6‑2, NOTCH3, NPC1, NPC2, OBFC1 (STN1), OCLN, PC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PLA2G6, PLAA, PLEKHG2, PLP1, POLG, POLR1C, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPT1, PSAP, PSAT1, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHA, SDHAF1, SLC16A2, SLC17A5, SLC1A4, SLC25A12, SNORD118, SOX10, SPTAN1, SUMF1, SURF1, TPP1, TREM2, TREX1, TUBB4A, TUFM, TYMP, TYROBP, VPS11 |
| Enfermedades neurodegenerativas | Enfermedad cerebral de vasos pequeños (10 Genes, NDD23) | APP, COL4A1, COL4A2, CTSA, FOXC1, GLA, HTRA1, NOTCH3, SNORD118, TREX1 |
| Enfermedades neurodegenerativas | Calcificacion de ganglios basales (20 Genes, NDD24) | ADAR, CA2, COL4A1, CTC1, ERCC6, ERCC8, GALC, IFIH1, OCLN, PDGFB, PDGFRB, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC20A2, TREM2, TREX1, TYROBP, XPR1 |
| Enfermedades Neuromusculares | Atrofia Muscular Espinal (AME), analisis paso por paso: (31 genes, NMD01) | AARS, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, FBXO38, GARS, HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, PLEKHG5, RBM7, REEP1, SCO2, SETX, SIGMAR1, SLC5A7, TRPV4, UBA1, VAPB, VRK1 |
| Enfermedades Neuromusculares | Atrofia Muscular Espinal (AME), analisis paso por paso: (31 genes, NMD01) | Repeticiones en AR, opcional |
| Enfermedades Neuromusculares | Atrofia Muscular Espinal (AME), analisis paso por paso: (31 genes, NMD01) | Paso 1: análisis de deleciones/duplicaciones en SMN1 (MLPA) |
| Enfermedades Neuromusculares | Atrofia Muscular Espinal (AME), analisis paso por paso: (31 genes, NMD01) | Paso 2: Atrofia Muscular Espinal (AME) (panel NGS) |
| Enfermedades Neuromusculares | Neuropatias hereditarias, analisis paso a paso: (101 genes, NMD02) | AARS, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, BSCL2, C10ORF2, C12ORF65, CCT5, COX6A1, CTDP1, DCAF8, DCTN2, DGAT2, DHTKD1, DNAJB2, DNAJB5, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GJB3, GNB4, HADHA, HADHB, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, PDK3, PLEKHG5, PMP2, PMP22, POLG, PRDM12, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SH3TC2, SLC12A6, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, TECPR2, TFG, TRIM2, TRPV4, TTR, TYMP, VCP, WNK1, YARS, ZNF106 |
| Enfermedades Neuromusculares | Neuropatias hereditarias, analisis paso a paso: (101 genes, NMD02) | Paso 1: análisis de deleciones/duplicaciones en PMP22 (MLPA) |
| Enfermedades Neuromusculares | Neuropatias hereditarias, analisis paso a paso: (101 genes, NMD02) | Paso 2: Neuropatías hereditarias (panel NGS) |
| Enfermedades Neuromusculares | Miopatias congenitas y distales (82 genes, NMD03) | ACTA1, ACVR1, ADSSL1, ANO5, BAG3, BIN1, C10ORF2, CACNA1S, CASQ1, CAV3, CCDC78, CFL2, CHCHD10, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CRYAB, DES, DNA2, DNAJB5, DNM2, DYSF, FHL1, FHL2, FKBP14, FLNC, GNE, HACD1 (PTPLA), HNRNPA1, HNRNPA2B1, ISCU, KBTBD13, KLHL40, KLHL41, KLHL9, KY, LAMP2, LDB3, LMOD3, MATR3, MEGF10, MICU1, MSTN, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYOT, NEB, OPA1, ORAI1, PABPN1, PLEC, POLG, POLG2, PUS1, PYROXD1, RRM2B, RYR1, SEPN1, SIL1, SPEG, STAC3, STIM1, SUCLA2, TIA1, TK2, TNNT1, TPM2, TPM3, TRIM32, TRIM54, TRIM63, TTN, VCP, VMA21, YARS2, ZAK |
| Enfermedades Neuromusculares | Distrofias musculares de cinturas (o cintura-miembro) (39 genes, NMD04) | ANO5, BVES, CAPN3, CAV3, DAG1, DES, DMD, DNAJB6, DPM3, DYSF, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, HNRNPDL, ISPD, LAMA2, LIMS2, LMNA, MYOT, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN |
| Enfermedades Neuromusculares | Distrofias musculares, analisis paso a paso: (42 genes, NMD05) | ANO5, B3GALNT2, B4GAT1 (B3GNT1), CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DMD, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GMPPB, GOLGA2, ISPD, ITGA7, LAMA2, LARGE, LMNA, PABPN1, POMGNT1, POMGNT2, POMT1, POMT2, PTRF, SEPN1, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TMEM5, TOR1AIP1, TRAPPC11, TRIP4, TTN |
| Enfermedades Neuromusculares | Distrofias musculares, analisis paso a paso: (42 genes, NMD05) | Step1: DMD deletion/duplication analysis (MLPA) |
| Enfermedades Neuromusculares | Distrofias musculares, analisis paso a paso: (42 genes, NMD05) | Step2: Muscular dystrophies (NGS panel) |
| Enfermedades Neuromusculares | Sindromes miastenicos congenitos y artrogriposis (58 genes, NMD06) | ACTA1, ADCY6, AGRN, ALG14, ALG2, ALG3, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTNAP1, COL13A1, COLQ, DNM2, DOK7, DPAGT1, ECEL1, ERBB3, FBN2, FBN3, FKBP10, GFPT1, GLDN, GLE1, GMPPB, GPR126, LAMB2, LRP4, MUSK, MYBPC1, MYH3, MYH8, MYO9A, NALCN, NEK9, PIEZO2, PIP5K1C, PLEC, PLOD2, PREPL, RAPSN, SCN4A, SEMA3A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYNE1, SYT2, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZC4H2 |
| Enfermedades Neuromusculares | Miotonia (5 genes, NMD07) | ATP2A1, CAV3, CLCN1, HINT1, SCN4A |
| Enfermedades Neuromusculares | Miopatias metabolicas (44 genes, NMD08) | ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, AGL, AMPD1, CPT2, ENO3, ETFA, ETFB, ETFDH, G6PC, GAA, GBE1, GYG1, GYS1, HADH, HADHA, HADHB, ISCU, LDHA, LPIN1, PDHA1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PNPLA2, POLG2, PRKAG2, PUS1, PYGM, RBCK1, RRM2B, SLC16A1, SLC22A5, SLC25A20, TAZ, YARS2 |
| Enfermedades Neuromusculares | Sindrome Walker-Warburg (15 genes, NMD10) | B3GALNT2, B4GAT1 (B3GNT1), COL4A1, DAG1, FKRP, FKTN, GMPPB, ISPD, LARGE, POMGNT1, POMGNT2, POMK, POMT1, POMT2, TMEM5 |
| Enfermedades Neuromusculares | Paralisis periodicas (5 genes, NMD12) | CACNA1S, SCN4A, KCNJ2, KCNJ5, KCNE3 |
| RASopatias | Desordenes de la via kinasa RAS/MAP (23 genes, RAS01) | A2ML1, AKT3, BRAF, CBL, CCND2, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PIK3CA, PIK3R2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1, STAMBP |
| Desordenes esqueleticos | Displasia metafisiaria (8 genes, SKT01) | COL10A1, FGFR3, MMP13, MMP9, PTH1R, RMRP, RUNX2, SBDS |
| Desordenes esqueleticos | Displasia epifisiaria multiple y pseudoacondroplasia (8 genes, SKT02) | COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2, PTH1R |
| Desordenes esqueleticos | Displasia espondilometafisiaria y displasia espondilo-epi-(meta)-fisiaria (27 genes, SKT03) | ACP5, B3GALT6, CANT1, CHST3, COL11A1, COL11A2, COL2A1, DDR2, DYM, EIF2AK3, HSPG2, IMPAD1, KIF22, MATN3, MMP13, NKX3-2, PAPSS2, PCYT1A, POP1, RAB33B, RMRP, SLC39A13, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1 |
| Desordenes esqueleticos | Displasia Micromelica, acromelica, acromesomelica, mesomelica, y rizo-mesomelica (19 genes, SKT04) | ADAMTSL2, DDR2, FBN1, FGFR3, GDF5, GPC6, GSC, IFT122, IFT140, IFT43, IHH, NPR2, PDE4D, PRKAR1A, ROR2, TRPS1, WDR35, WNT5A, ZSWIM6 |
| Desordenes esqueleticos | Displasia de costillas cortas (13 genes, SKT05) | DYNC2H1, EVC, EVC2, IFT122, IFT140, IFT172, IFT80, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60 |
| Desordenes esqueleticos | Condrodisplasia punctata (7 genes, SKT06) | AGPS, ARSE, EBP, GNPAT, LBR, NSDHL, PEX7 |
| Desordenes esqueleticos | Osteogenesis imperfecta y displasias esqueleticas relacionadas con densidad mineral osea disminuida (22 genes, SKT07) | ANO5, ATP6V0A2, B4GALT7, BMP1, COL1A1, COL1A2, CRTAP, FKBP10, GORAB, IFITM5, LRP5, P3H1, PLOD2, PLS3, PPIB, PYCR1, SERPINF1, SERPINH1, SP7, TMEM38B, TNFRSF11B, WNT1 |
| Desordenes esqueleticos | Osteopetrosis y displasias esqueleticas relacionadas con densidad mineral osea incrementada (28 genes, SKT08) | AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DHCR24, DLX3, FAM20C, GJA1, HPGD, LEMD3, LRP4, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, PTH1R, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11 |
| Desordenes esqueleticos | Raquitismo hipofosfatemico y displasias esqueleticas relacionadas con mineralizacion anormal (16 genes, SKT09) | ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, GNA11, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR |
| Desordenes esqueleticos | Malformaciones en extremidades: braquidactilia aislada, sinostosis, pie/mano hendidos, polidactilia, sindactilia, y sindromes geneticos seleccionados con malfromaciones en extremidades (20 genes, SKT10) | BHLHA9, BMP2, BMPR1B, FBLN1, FGF16, GDF5, GJA1, GLI3, HOXA11, HOXD13, IHH, LMBR1, LRP4, NOG, PTHLH, ROR2, TP63, TRPV4, WNT10B, WNT7A |
| Desordenes esqueleticos | Craneosinostosis (20 genes, SKT11) | ALX4, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, IFT122, IFT43, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, TCF12, TWIST1, WDR19, WDR35 |
| Desordenes esqueleticos | Desordenes esqueleticos potencialemente letales (44 genes, SKT12) | AGPS, ALPL, ARSE, BMPER, CANT1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, CRTAP, DHCR7, DLL3, DYNC2H1, EBP, FAM111A, FAM20C, FGFR2, FGFR3, FLNA, FLNB, GDF5, GLI3, GNPAT, IFT80, INPPL1, LBR, LIFR, NEK1, NSDHL, OFD1, P3H1, PEX7, PPIB, PTH1R, RNU4ATAC, SLC26A2, SLC35D1, SOX9, TCTN3, TRIP11, TRPV4, WDR34, WNT7A |
| Desordenes esqueleticos | Sindrome Seckel, Sindrome 3-M, Sindrome Rubinstein-Taybi, Sindrome Kabuki y otros sindromes geneticos seleccionados con compromiso esqueletico (42 genes, SKT13) | ATR, CCDC8, CDC6, CDKN1C, CDT1, CENPJ, CEP152, CEP63, CREBBP, CUL7, DNA2, EP300, ESCO2, FAM111A, FAM58A, FGF10, FGF9, FGFR2, FGFR3, GDF3, GDF6, LARP7, LMX1B, MEOX1, MGP, NIN, OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RECQL4, SALL1, SALL4, SF3B4, SH3PXD2B, TBCE, TBX15, TBX3, TBX5 |
| Paneles enfocados | Afibrinogenemia / disfibrinogenemia (3 genes, SSP01) | FGA, FGB, FGG |
| Paneles enfocados | Inmunodeficiencia comun variable (CVID) (13 genes, SSP02) | CD19, CD81, CR2, CXCR4, ICOS, LRBA, MS4A1, NFKB1, NFKB2, PRKCD, TNFRSF13B, TNFRSF13C, TNFSF12 |
| Paneles enfocados | Esclerosis Tuberosa (2 genes, SSP03) | TSC1, TSC2 |
| Paneles enfocados | Telangiectasia hemorragica hereditaria (HHT) (5 genes, SSP07) | ACVRL1, ENG, GDF2, RASA1, SMAD4 |
| Paneles enfocados | Neurofibromatosis (3 genes, SSP08) | NF1, NF2, SPRED1 |
| Paneles enfocados | Hiperekplexia (3 genes, SSP09) | GLRA1, GLRB, SLC6A5 |
| Paneles enfocados | Holoprosencephalia (9 genes, SSP10) | CDON, FGFR1, GLI2, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2 |
| Paneles enfocados | Enfermedad Refsum (8 genes, SSP11) | AMACR, PEX1, PEX2, PEX26, PEX3, PEX5, PEX7, PHYH |
| Paneles enfocados | Ataxia episodica (9 genes, SSP12) | ATP1A3, CACNA1A, CACNB4, FGF14, KCNA1, KCNQ2, SCN2A, SLC1A3, SLC2A1 |
| Paneles enfocados | Distonia respondedora a DOPA (3 genes, SSP13) | GCH1, TH, SPR |
| Paneles enfocados | Sindrome de dolor neuropatico (4 genes, SSP14) | SCN9A, SCN10A, SCN11A, TRPA1 |
| Paneles enfocados | Hipertermia maligma (3 genes, SSP15) | RYR1, CACNA1S, STAC3 |
| Paneles enfocados | Colestasis intrahepatica familiar (4 genes, SSP16) | ABCB11, ABCB4, ATP8B1, MYO5B |
| Paneles enfocados | Enfermedad de orina con olor a jarabe de arce (4 genes, SSP17) | BCKDHA, BCKDHB, DBT, DLD |
| Paneles enfocados | Diabetes tipo MODY (MODY) (12 genes, SSP18) | ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1 |
| Paneles enfocados | Sindrome Kabuki (5 genes, SSP19) | KDM6A, KMT2D, CHD7, EYA1, IRF6 |
| Paneles enfocados | Craneosinostosis (7 genes, SSP20) | FGFR1, FGFR2, FGFR3, TCF12, TWIST1, ERF, MSX2 |
| Sindromes tumorales | Cancer Colorrectal (26 genes, CAN01) | APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NTHL1, PMS2, POLD1, POLE, PTEN, RINT1, RNF43, RPS20, SCG5, SMAD4, STK11, TP53 |
| Sindromes tumorales | Sindromes de poliposis (14 genes, CAN11) | APC, BMPR1A, CHEK2, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SCG5, SMAD4, STK11 |
| Sindromes tumorales | Cancer gastrico (10 genes, CAN13) | BRCA2, CDH1, EPCAM, IL1B, IL1RN, KIT, MLH1, MSH2, MSH6, PMS2 |
| Sindromes tumorales | Sindrome Cowden (6 genes, CAN14) | AKT1, PIK3CA, PTEN, SDHB, SDHD, SEC23B |
| Sindromes tumorales | Cancer pancreatico (17 genes, CAN06) | APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PALLD, PMS2, PRSS1, SPINK1, STK11, TP53, VHL |
| Sindromes tumorales | Cancer de mama y ovario (12 genes, CAN02) | ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 |
| Sindromes tumorales | Cancer de mama y ovario- extendido (40 genes, CAN21) | ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, HOXB13, MEN1, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RINT1, SDHB, SDHC, SDHD, SLX4, STK11, TP53, XRCC2 |
| Sindromes tumorales | Cancer de prostata (11 genes, CAN03) | BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, TP53 |
| Sindromes tumorales | Feocromocitoma y paraganglioma (14 genes, CAN04) | CDKN1B, MAX, MEN1, NF1, PRKAR1A, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SRGAP1, TMEM127, VHL |
| Sindromes tumorales | Otros sindromes familiares de tumores (53 genes, CAN05) | AIP, AKT1, ALK, APC, ATR, BAP1, BLM, BRCA2, CDC73, CDH1, CDKN1C, CDKN2A, CYLD, DICER1, EPCAM, FH, HRAS, IL1B, IL1RN, KIT, LIG4, LZTR1, MET, MLH1, MSH2, MSH6, NBN, NF1, NF2, PIK3CA, PMS2, PTEN, RASAL1, RB1, RECQL4, RET, RHBDF2, SDHA, SDHB, SDHC, SDHD, SEC23B, SMARCA4, SMARCB1, SMARCE1, SPRED1, SUFU, TP53, TSC1, TSC2, VHL, WRN, YAP1 |
| Sindromes tumorales | Tumores del sistema nervioso central (18 genes, CAN51) | AIP, APC, BRCA2, MLH1, MSH2, MSH6, NF1, NF2, PMS2, PTEN, SDHA, SDHB, SDHD, SMARCE1, SPRED1, SUFU, TP53, VHL |
| Sindromes tumorales | Carcinoma de celulas renales (28 genes, CAN07) | BAP1, CCND1, CDC73, CHEK2, DIS3L2, EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, WT1 |
| Sindromes tumorales | Xeroderma pigmentosum (9 genes, CAN08) | DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC |
| Sindromes tumorales | Melanoma (15 genes, CAN09) | BAP1, BRCA2, CDK4, CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS2, POT1, PTEN, RB1, TP53 |
| Sindromes tumorales | Anemia de Fanconi (21 genes, CAN10) | BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, SLX4, UBE2T, XRCC2 |
