Portada » Buscador de estudios genéticos
Estudios genéticos
Te ofrecemos un amplio catálogo de pruebas en diferentes especialidades médicas
Buscador de estudios genéticos
Encuentra el estudio que te interesa en nuestra base de datos.
Puedes realizar la búsqueda por fenotipo y por gen.
* Si tienes alguna pregunta, respondemos tus dudas.
Cardiología
DG Cardiopatía
DG_05.001
ABCC8, ABCC9, ABCG5, ABCG8, ACTA2, ACTC1, ACTN2, ACVRL1, AGK, AKAP9, ANK2, ANKRD1, APOB, APOE, APPL1, B3GAT3, BAG3, BGN, BLK, BMP10, BMPR1A, BMPR1B, BMPR2, BRAF, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV1, CAV3, CAVIN4, CBL, CCDC115, CDH2, CEL, CHRM2, CHST14, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COMT, CRYAB, CYP7A1, CSRP3, CTNNA3, CTNNB1, DES, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EIF2AK3, EIF2AK4, ELAC2, ELN, EMD, ENG, EPG5, EYA4, FBN1, FHL1, FHL2, FHOD3, FKRP, FKTN*, FLNA, FLT4, FLNC, GAA, GATA4, GATA5, GATA6, GATAD1, GCK, GDF1, GDF2, GJA5, GLA, GLIS3, GPD1L, HAND2, HCN4, HFE, HNF1A, HNF1B, HNF4A, HRAS, ILK, INS, JAG1, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ11, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KIF20A, KLF11, KRAS, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LIPA, LMNA, LOX, LZTR1, MAP2K1, MAP2K2, MAT2A, MED12, MFAP5, MIB1, MRAS, MRPL44, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYO6, MYOZ2, MYPN, NEBL, NEUROD1, NEXN, NF1, NKX2-5, NKX2-6, NNT, NOTCH1, NOTCH3, NPPA, NRAS, PAX4, PAX6, PCSK9, PDLIM3, PDX1, PKP2, PLN, PLOD1,PPARG, PPCS, PPP1CB, PRDM16, PRKAG2, PRKG1, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RANGRF, RASA2, RBM20, RIT1, RRAS, RRAS2, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCNN1A, SDHA, SEMA3A, SGCD, SHOC2, SKI, SLC2A10, SLC22A5, SLC25A3, SLC25A4, SLC4A3, SLMAP, SMAD1, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SNTA1, SOS1, SOS2, SPRED1, STAP1, SYNE1, SYNE2, TAF1A, TAFAZZIN, TBX1, TBX20, TBX4, TBX5, TCAP, TKFC, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMEM199, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL, ZFPM2
DG Miocardiopatía
DG_05.002
A2ML1, ABCC9, ACTC1, ACTN2, AGK, ALPK3, ANKRD1, APOE, BAG3, BRAF, CALR3, CAV3, CAVIN4, CBL, CDH2, CHRM2, CITED2, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EIF2AK3, ELAC2, EMD, EPG5, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN*, FLNA, FLNC, GAA, GATA4, GATA5, GATA6, GATAD1, GDF1, GJA5, GLA, HAND2, HCN4, HFE, HRAS, JAG1, JPH2, JUP, KCND3, KCNE3, KCNE5, KCNJ2, KCNJ8, KIF20A, KRAS, LAMA4, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MRPL44, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NOTCH1, NPPA, NRAS, PDLIM3, PKP2, PLN, PPARG, PPCS, PPP1CB, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RASA2, RBM20, RIT1, RRAS, RRAS2, RYR2, SCN5A, SDHA, SGCD, SHOC2, SMAD6, SLC22A5, SLC25A3, SLC25A4, SOS1, SOS2, SYNE1, SYNE2, TAF1A, TAFAZZIN, TBX1, TBX20, TCAP, TGFB3, TKFC, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL, ZFPM2.
Miocardiopatía Hipertrófica
DG_05.003
ACTC1, ACTN2, AGK, ALPK3, ANKRD1, CALR3, CAV3, CSRP3, DES, ELAC2, FXN, FHL1, FHOD3, FLNC, GAA, GLA, GYS1, JPH2, LAMP2, LDB3, MRPL44, MTO1, QRSL1, SLC25A4, TKFC, A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NRAS, PLN, PRKAG2, PPARG, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, RRAS2, RYR2, SHOC2, SLC25A3, SOS1, SOS2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTN, TTR, VCL.
Miocardiopatía Dilatada
DG_05.004
ABCC9, ACTA1, ACTC1, ACTN2, ANKRD1, BAG3, CAP2, CAVIN4, CHRM2, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSG2, DSP, EMD, EPG5, EYA4, FHL2, FKTN, FLNC, GATAD1, HAND2, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PDLIM3, PKP2, PLN, PPCS, PRDM16, PSEN1, PSEN2, RAF1, RBM20, SCN5A, SDHA, SGCD, TAF1A, TAFAZZIN, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TXNRD2, VCL
Miocardiopatía Arritmogénica
DG_05.005
ABCC9, AKAP9, CACNA1C, CACNA2D1, CACNB2, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GPD1L, HCN4, JUP, KCND3, KCNE3, KCNE5, KCNJ8, LDB3, LMNA, PKP2, PLN, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN5A, SCNN1A, SEMA3A, SLMAP, SYNE1, SYNE2, TGFB3, TMEM43, TRPM4, TTN
Miocardiopatía Restrictiva
DG_05.006
ACTC1, ACTN2, DES, FHL1, FLNC, GLA, KIF20A, MYBPC3, MYH7, MYL2, MYL3, MYPN, NPPA, SCN5A, TNNC1, TNNI3, TNNT2, TPM1, TTR
Miocardiopatía No Compactada
DG_05.007
ACTC1, ACTN2, DMD, DNAJC19, DTNA, FHL1, FHOD3, KCNA5, LDB3, LMNA, MYL2, MYBPC3, MYH7, NKX2-5, PLN, PRDM16, RYR2, TNNI3, TNNT2, TPM1, TAFAZZIN, TBX20, TTN
Malformación Cardíaca
DG_05.008
CITED2, FLT4, GATA4, GATA5, GATA6, GDF1, GJA5, JAG1, NKX2-5, NKX2-6, NOTCH1, RASA1, SMAD6, TBX1, TBX20, ZFPM2.
DG Canalopatías
DG_05.009
ABCC9, ACTC1, AKAP9, ANK2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, DES, DPP6, EMD, GAA, GJA5, GLA, GPD1L, HCN4, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LMNA, MYH6, NKX2-5, NPPA, PKP2, PRKAG2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCNN1A, SEMA3A, SLC22A5, SLC4A3, SLMAP, SNTA1, TBX5, TNNI3K, TECRL, TRDN, TRPM4, TTR
Síndrome de QT largo
DG_05.010
AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, RYR2, SCN4B, SCN5A, SLC22A5, SNTA1, TECRL, TRDN
Síndrome de QT corto
DG_05.011
CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1, SLC22A5.
Síndrome de Brugada
DG_05.012
ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNE5, KCNJ8, PKP2, RANGRF, SCN1B, SCN10A, SCN2B, SCN3B, SCN5A, SCNN1A, SEMA3A, SLMAP, TRPM4
Taquicardia Ventricular Polimórfica Catecolaminérgica
DG_05.013
ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN
Trastorno de la Conducción Cardíaca
DG_05.014
ACTC1, CACNA1D, DES, EMD, GAA, GJA5, GLA, HCN4, KCNJ2, LAMP2, LMNA, MYH6, NKX2-5, PRKAG2, SCN1B, SCN5A, SLC22A5, TBX5, TNNI3K, TRPM4, TTR
Fibrilación Auricular
DG_05.015
ACTC1, EMD, GJA5, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNJ2, KCNQ1, LMNA, NKX2-5, NPPA, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, TBX5, TTR
DG Rasopatías
DG_05.016
A2ML1, BRAF, CBL, FGD1, HRAS, JAG1, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1
DG Aortopatías
DG_05.017
ACTA2, ADAMTSL4, B3GAT3, BGN, CBS, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FKBP14, FLNA, FOXE3, GAA, GATA5, HRAS, KCNJ8, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NKX2-5, NOTCH1, PLOD1, PRKG1, PTPN11, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZDHHC9
Síndrome de Marfan
DG_05.018
FBN1, TGFBR1, TGFBR2
Síndrome de Marfan ampliado
DG_05.019
ACTA2, BGN, CBS, COL11A1, COL11A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ELN, FBN1, FBN2, FOXE3, HNRNPK, LOX, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PRKG1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
Síndrome de Loeys-Dietzs
DG_05.020
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Síndrome de Shprintzen-Goldberg
DG_05.021
FBN1, SKI
Síndrome de Ehlers-Danlos
DG_05.022
ADAMTS2, ADAMTSL2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469
Aneurisma de aorta torácica y disecciones de aorta familiares
DG_05.023
ACTA2, BGN, COL3A1, ELN, FBN1, FOXE3, LOX, MAT2A, MFAP5, MYH11, MYLK, PRKG1, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
DG Hipertensión
DG_05.024
ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, NOTCH3, RASA1, SMAD1, SMAD4, SMAD9, TBX4
Telangiectasia Hemorrágica
DG_05.025
ACVRL1, ENG, GDF2, SMAD4
DG Hipercolesterolemia
DG_05.026
ABCG5, ABCG8, APOB, APOE, CCDC115, CYP7A1, LDLR, LDLRAP1, LIPA, PCSK9, STAP1, TMEM199
DG Cardiopatía Congénita
DG_05.027
A2ML1, ABCC9, ACTA1, ACTC1, ACVR2B, ACVRL1, ANK2, ANKRD1, BMPR2, BRAF, CBL, CFC1, CFL2, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CREBBP, CRELD1, CHD7, DTNA, EFEMP2, EHMT1*, ELN, ENG, EP300, EVC, EYA4, FBN1, FBN2, FLNA, FLT4, GAA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, HACD1, HAND2, HRAS, ITGA7, JAG1, KANSL1, KCNA5, KCNE1, KCNE2, KCNJ2, KCNQ1, KCNJ8, KCNK3, KDM6A, KLHL40, KLHL41, KMT2D, KRAS, LDB3, LEFTY2, LMNA, LOX, LZTR1 ,MAP2K1, MAP2K2, MAP3K20, MCTP2, MED12, MED13L, MFAP5, MIB1, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYLK, NEB, NEXN, NF1, NKX2-5, NKX2-6, NOTCH1, NRAS, PKP2, PLEKHM2, PRDM16, PTPN11, RAF1, RASA1, RIT1, RRAS, RRAS2, SCN5A, SELENON, SHOC2, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPRED1, TAB2, TBX1, TBX20, TBX4, TBX5, TGFB2, TGFB3, TGFBR1, TGFBR2, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TPM1, TPM2, TPM3, TTN, UPF3B, ZFPM2, ZIC3
Pediatría
DG Cardiopatía Congénita
DG_06.001
A2ML1, ABCC9, ACTA1, ACTC1, ACVR2B, ACVRL1, ANK2, ANKRD1, BMPR2, BRAF, CBL, CFC1, CFL2, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CREBBP, CRELD1, CHD7, DTNA, EFEMP2, EHMT1*, ELN, ENG, EP300, EVC, EYA4, FBN1, FBN2, FLNA, FLT4, GAA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, HACD1, HAND2, HRAS, ITGA7, JAG1, KANSL1, KCNA5, KCNE1, KCNE2, KCNJ2, KCNQ1, KCNJ8, KCNK3, KDM6A, KLHL40, KLHL41, KMT2D, KRAS, LDB3, LEFTY2, LMNA, LOX, LZTR1 ,MAP2K1, MAP2K2, MAP3K20, MCTP2, MED12, MED13L, MFAP5, MIB1, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYLK, NEB, NEXN, NF1, NKX2-5, NKX2-6, NOTCH1, NRAS, PKP2, PLEKHM2, PRDM16, PTPN11, RAF1, RASA1, RIT1, RRAS, RRAS2, SCN5A, SELENON, SHOC2, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPRED1, TAB2, TBX1, TBX20, TBX4, TBX5, TGFB2, TGFB3, TGFBR1, TGFBR2, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TPM1, TPM2, TPM3, TTN, UPF3B, ZFPM2, ZIC3
Distrofinopatía (Duchenne y Becker)
DG_06.002
DMD
Distrofinopatía (Duchenne y Becker)
DG_06.003
DMD
DG Epilepsia
DG_06.004
AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADGRV1, ADRA2B, AFG3L2, AKT1, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARV1, ARFGEF2, ARHGEF9, ARX, ASAH1, ATP1A2, ATP1A3, ATP13A2, ATP6V1A, BRAT1, BRD7, BTD, C3orf33, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CCM2, CDKL5, CDK19, CELF2, CERS1, CHD2, CILK1, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6 , CLN8, CLCN2, CLTC, CNPY3, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CPLX1, CSTB, CTNND2, CTSD, CYFIP2, DALRD3, DCX, DEPDC5, DHDDS, DMXL2, DNAJC5, DNM1, EFHC1, EEF1A2, EPM2A, FANCL, FGF12, FGF13, FKRP, FKTN*, FLNA, FMR1, FOLR1, FOXG1, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAL, GBA, GJA3, GLI3, GNAQ, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, HEATR3, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNC1, KCNN2, KCNQ2, KCNQ3, KCNT1, LARGE1, LGI1, LMNB2, MAPK10, MECP2, MFSD8, NECAP1, NUS1, NEUROD2, NHLRC1, NPRL2, NPRL3, NTRK2, PAFAH1B1, PARS2, PCDH19, PCDH7, PDCD10, PHACTR1, PIK3CA, PIK3R2, PIGA, PIGP, PIGQ , PLCB1, PNKP, PNPO, POMT1, POMT2, POLG, PPT1, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RELN, RNASEH2A, RNASEH2B, RNASEH2C,SAMD12, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SIK1, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22, SLC33A1, SLC6A1, SNX27, SPTAN1, STXBP1, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TUBA1A, WDR45,WDR62, UBA5, YEATS2, WWOX, YWHAG, ZEB2
Epilepsia Neonatal e Infantil
DG_06.005
AARS1, ACTL6B, ADAR, ADGRV1, AP3B2, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CDKL5, CDK19, CELF2, CHD2, CILK1, CLCN2, CLTC, CNPY3, CNKSR2, CPLX1, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EFHC1, EEF1A2, FGF12, FGF13, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GLI3, GNAQ, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNQ2, KCNQ3, KCNT1, MAPK10, NECAP1, NUS1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, PPP3CA, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SPTAN1, ST3GAL3, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22,SPTAN1, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, WDR45, UBA5, WWOX, YWHAG
Encefalopatía Epiléptica
DG_06.006
AARS1, ACTL6B, ADAR, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CASK, CDK19, CDKL5, CELF2, CHD2, CLTC, CNKSR2, CNPY3, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EEF1A2, FGF12, FGF13, GABRA1, GABRG2, GABRA2, GABRA5, GABRB2, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1 , IQSEC2, KCNA1,KCNB1, KCNQ2, KCNT1, MAPK10, NECAP1, NEUROD2,NTRK2, NUS1, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PPP3CA, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A,SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22, SPATA5, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, UBA5, WWOX, WDR45
Epilepsia Generalizada
DG_06.007
ADGRV1, GABRD, GABRG2, HCN1, KCNMA1, SCN1A, SCN2A, SCN9A, SCN1B, STX1B
Epilepsia Generalizada con convulsiones febriles plus
DG_06.008
ADGRV1, GABRD, GABRG2, HCN1, SCN1A, SCN1B, SCN2A, SCN9A, STX1B
Epilepsia Focal
DG_06.009
AKT3, CCM2, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, COL4A1, COL4A2, CPA6, DEPC5, GAL, GNAQ, GRIN1, GRIN2A, GRIN2B, KCNT1, KCNQ2, NPRL2, NPRL3, PDCD10, PIK3CA, PIGA, PLCB1, RELN, SCN3A, SCN1A, SCN2A, SLC12A5, SLC25A22, TBC1D24
Epilepsia Mioclónica
DG_06.010
ADRA2B, AFG3L2, AP2M1, ASAH1, ATP13A2, CACNB4, CERS1, CHD2, CILK1, CLCN2, CLN3, CLN5, CLN6, CLN8, CNTN2, CTNND2, CPLX1, CSTB, CTSD, CTSF, DNAJC5, EFHC1, EPM2A, FOLR1, GABRA1, GABRD, GBA, GOSR2, GRN, JRK, KCNC1, KCTD7, KCNQ3, LMNB2, MFSD8, NHLRC1, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, SAMD12, SCARB2, SERPINI1, SLC2A1, SLC6A1, SNX27, SURF1, SYNGAP1, TBC1D24, TPK1, TPP1
Epilepsia Mioclónica del lactante y juvenil
DG_06.011
CPLX1, TBC1D24, CACNB4, CLCN2, CILK1, EFHC1, GABRA1, GABRD, JRK, KCNQ3
DG Trastorno Espectro Autista
DG_06.012
ADNP, ACHE, ACTB, ADA, ADCY3, ADSL, AFF2, AGAP2, AHDC1, AHNAK, AKAP9, ALDH5A1, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANXA1, AP2S1, APBB1, APH1A, ARHGEF9, ARID1B, ARX, ASAP2, ASH1L, ASPM, ASTN2, ASXL3, ATP10A, ATP2B2, ATRX, AUTS2, AVPR1A, BAZ2B, BCKDK, BCL11A, BICRA, BRAF, BRSK2, BTAF1, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CACNB2, CAPRIN1, CASK, CASZ1, CC2D1A, CCNG1, CCT4, CDC42BPB, CDH13, CDKL5, CELF4, CEP135, CEP41, CGNL1, CHAMP1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRNA7, CIB2, CIC, CLASP1, CNKSR2, CNOT1, CNOT3, CNR1, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CORO1A, CPEB4, CREBBP, CSDE1, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CYFIP1, DAPP1, DCC, DDHD2, DDX3X, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DLG2, DLG4, DLGAP1, DLX3, DMPK, DNMT3A, DOCK8, DPP10, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EBF3, EFR3A, EHMT1, EIF3G, ELAVL3, ELP2, ELP4, EMSY, EP300, EP400, ERBIN, ETFB, FBN1, FGFR1, FMR1, FOXG1, FOXP1, FOXP2, FRG1, GABRB2, GABRB3, GABRG3, GALNT10, GALNT8, GFAP, GGNBP2, GIGYF1, GIGYF2, GNAI1, GPC4, GPHN, GRIA1, GRIA2, GRID1, GRIK2, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, HDLBP, HECTD4, HECW2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HRAS, ICA1, ILF2, INTS6, IQSEC2, IRF2BPL, ITGB3, JARID2, KANSL1, KAT2B, KAT6A, KATNAL2, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNS3, KDM3B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0232, KIAA1586, KIF14, KIF1A, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, LAMB1, LDB1, LEO1, LMX1B, LRP1, LRRC4C, LZTR1, MACROD2, MAGEL2, MAP1A, MAPT-AS1, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MET, MFRP, MIR137, MKX, MSL3, MSNP1, MTOR, MYH10, MYH9, MYO5A, MYO9B, MYT1L, NAA15, NACC1, NAV2, NBEA, NCKAP1, NCOA1, NCOR1, NEXMIF, NF1, NFE2L3, NINL, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NRXN3, NSD1, NSD2, NUAK1, NUDCD2, NUP155, OPHN1, OR52M1, OTUD7A, OXTR, P2RX5, P4HA2, PACS1, PAH, PAK2, PARD3B, PAX5, PCCB, PCDH19, PER2, PHB1, PHF12, PHF2, PHF21A, PHF3, PHF7, PHIP, PHRF1, PLCB1, PLXNA4, PLXNB1, POGZ, POMGNT1, PON1, PPP1R9B, PPP2R5D, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKD2, PRKN, PRODH, PRR12, PSMD12, PTCHD1, PTCHD1-AS, PTEN, PTK7, PTPN11, PYHIN1, QRICH1, RAB2A, RAB43, RAI1, RALGAPB, RANBP17, RBFOX1, RBM27, RELN, RERE, RFX3, RIMS1, ROBO2, RORB, SAE1, SATB1, SBF1, SCAF4, SCN1A, SCN2A, SCN8A, SCN9A, SEMA5A, SET, SETBP1, SETD2, SETD5, SHANK1, SHANK2, SHANK3, SHOX, SIN3A, SIN3B, SKI, SLC12A5, SLC35B1, SLC38A10, SLC6A1, SLC6A3, SLC7A3, SLC7A5, SLC9A6, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCC2, SNX5, SON, SORCS3, SOX5, SPARCL1, SPAST, SPEN, SPTBN1, SRCAP, SRPRA, SRSF11, ST8SIA2, STXBP1, STXBP5, SUPT16H, SYN1, SYNGAP1, TAF6, TANC2, TAOK1, TAOK2, TBC1D31, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TEK, TERF2, TET2, TLK2, TM9SF4, TMLHE, TNRC6B, TRAF7, TRAPPC9, TRIM23, TRIO, TRIP12, TRPC6, TRPM1, TSC1, TSC2, TSHZ3, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC79, UPF3B, USP15, USP45, USP7, USP9X, VEZF1, VIL1, VPS13B, WAC, WDFY3, WDFY4, WWOX, ZBTB20, ZC3H4, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF292, ZNF462, ZNF804A
DG Discapacidad Intelectual
DG_06.013
AAAS, AASS, ABAT, ABCB11, ABCD1, ABHD5, ACADS, ACSL4, ADAT3, ADGRG1, ADSL, AGA, AGTR2, AHI1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMT, AP1G1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARSA ARX, ASH1L, ASPA, ASPM, ASXL1, ASXL3, ATP6AP2, ATP7A, ATP8A2, ATRX, AUH, B3GALNT2, B3GLCT, B3GNT2, B4GALT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, BRCA2, BRIP1, BRSK2, BRWD3, BSCL2, BTD, C12orf4, CA2, CA8, CACNA1C, CACNG2, CAMK2A, CAMK2B, CANT1, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CD96, CDH15, CDK5RAP2, CDKL5, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CHD7, CHKB, CHMP1A, CIC, CLIC2, CLIP1, CLN3, CLCN4, CLN5, CLN6, CLN8, CLTC, CNKSR2, COG1, COG4, COG5, COG6, COG7, COG8, COL2A1, COL4A1, COMP, COQ2, COQ4, COQ6, COQ8A, COQ9, CPLANE1, CPS1, CRADD, CRBN, CRPPA, CSNK2B, CSPP1, CTCF, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CYB5R3, CYP27A1, DARS2, DCPS, DCX, DDC, DDOST, DDX59, DHCR7, DKC1, DLG3, DLL1, DNAJC19, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPF2, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EDC3, EEF1A2, EIF2S3, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZR, FAM126A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN*, FLNA, FMN2, FOXG1, FOXL2, FRMPD4, FRRS1L, FTCD, FTSJ1, FUCA1, GABRG2, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GFAP, GJB1, GJB6, GJC2, GK, GLB1, GLDC, GLI3, GLYCTK, GM2A, GMPPB, GNAS, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPI, GRIA3, GRIK2, GRIN1, GRIN2B, GRM7,GSS, GUSB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNMT, HPRT1, HRAS, HSD17B10, HSPD1, HSPG2, HUWE1, HYAL1, HYLS1, IDS, IDUA, IGBP1, IL1RAPL1, INPP5E, INSR, IQSEC2, ITPR1, JAG1, KATNIP, KCNC3, KCNJ10, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1A, KIF7, KIRREL3, KMT2D, KNL1, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LARGE1, LINS1, LMAN2L, LRP5, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MBD5, MBOAT7, MCOLN1, MCPH1, MECP2, MED12, MED23, MED25, METTL23, MFSD8, MGAT2, MID1, MID2, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MVK, MYCN, MYO5A, MYT1L, NAA10, NAGLU, NBN, NBEA, NCDN, NDE1, NDP, NDST1, NECTIN1, NEMF, NEXMIF, NFIX, NGLY1, NHS, NIPBL, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NSD1, NSDHL, NSUN2, NTRK1, OCRL, OFD1, OPA3, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PAX3, PAX6, PCBD1, PCCA, PCDH19, PDHA1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHC1, PHF6, PHF8, PIBF1, PIGL, PLA2G6, PLP1, PMM2, PNKP, PNP, PNPO, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPT1, PPP3CA, PQBP1, PRKAR1A, PRICKLE2, PRPS1, PRSS12, PSAP, PTCH1, PTCHD1, PTEN, PTPN11, PTS, QDPR, RAB11A, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RARS2, RBM10, RECQL4, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPS6KA3, RSRC1, RXYLT1, SACS, SAMHD1, SAR1B, SARS1, SBDS, SC5D, SCN1A, SCN2A, SCN9A, SEMA3E, SEPSECS, SET, SETBP1, SETD1B, SGSH, SH3PXD2B, SHROOM4, SIL1, SLC12A2, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A22, SLC2A1, SLC45A1, SLC9A7, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX11, SOX3, SOX4, SPAST, SPG11, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STEEP1, STIL, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAT, TAOK1, TBCE, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TECR, TGFBR1, TGFBR2, TIMM8A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TNIK, TPI1, TPP1, TRAPPC9, TREM2, TREX1, TRIM32, TRPM3, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTC5, TTC8, TUBA1A, TUBB4A, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBE4A, UBR1, UFSP2, UMPS, UPF3B, UROC1, USP27X, USP9X, VLDLR, VPS13B, VRK1, WASHC4, WDPCP, WDR62, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZMYND11, ZNF335, ZNF423, ZNF711, ZNF81
Discapacidad Intelectual LX
DG_06.014
ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ALG13, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, STEEP1, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81.
Síndrome de X Frágil
DG_06.015
FMR1
Síndrome de Angelman
DG_06.016
15q11
Síndrome de Prader-Willi
DG_06.017
15q11
Diabetes Mellitus Neonatal
DG_06.018
ABCC8, GCK, HYMAI, INS, KCNJ11, PDX1, PLAGL1, PTF1A, STAT3, ZFP57
Diabetes Mellitus Neonatal Sindrómica
DG_06.019
EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, HNF1B, IER3IP1, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX6, PTF1A, RFX6, SLC19A2, WFS1
DG Metabolismo Neonatal
DG_06.020
ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB ACADVL, ACAT1, ACOX1, ADA, AHCY, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CFTR, CPT1A, CPT2, CYP21A2, DBT, ETFA, ETFB, ETFDH, FAH, G6PC1, GAA, GALC, GALE, GALK1, GALT, GCH1, GCDH, GLA, GLDC, GNMT, GYS2, HADHA, HADHB, HBB, HCFC1, HLCS, HMGCL, HPD HSD17B10, IDUA, IVD, MAT1A, LMBRD1, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MTHFR, MTRR, NAGS, OTC, PAH, PCBD1, PCCA, PCCB, PTS, QDPR, SLC2A1, SLC22A5, SLC25A13, SLC25A20, TAT
Neurología
DG Párkinson
DG_07.001
ATP13A2, COQ2, DNAJC6, FBXO7, LRRK2, MAPT, PARK7 (DJ1), PINK1, PRKN, PODXL, SLC6A3, SNCA, SYNJ1, VPS13C, VPS35
Párkinson inicio edad adulta
DG_07.002
GBA, LRRK2, PARK7 (DJ1), PINK1, PRKN, SNCA, VPS13C, VPS35
Párkinson de inicio temprano
DG_07.003
ATP13A2, PARK7 (DJ1), DNAJC6, FBXO7, PINK1, PODXL, PRKN, SLC6A3, SYNJ1, VPS13C
DG Trastornos Parkinsonianos
DG_07.004
ATP6AP2, COQ2, DCTN1, GCH1, LRRK2, LYST, MAPT, NUS1, OPA1, PLA2G6, PTRHD1, RAB39B, SPG11, TWNK, ZFYVE26, SYNJ1, VPS13C
DG Distonía
DG_07.005
ANO3, ADAR, ARSA, ATN1, ATP13A2, ATP1A3, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, ECHS1, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GNAL, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, KMT2B, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKN, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SPR, SUCLA2, TAF1, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TUBB4A, VPS13A, WDR45, XK, XPR1
Distonía Aislada
DG_07.006
ANO3, GNAL, KMT2B, THAP1, TOR1A, TUBB4A
Distonía con Parkinsonismo
DG_07.007
ATP1A3, GCH1, SPR, TAF1, TH
Distonía Mioclónica
DG_07.008
SGCE
Distonía Paroxística con otra discinesia
DG_07.009
ECHS1, PNKD, PRRT2, SLC2A1
Distonía Compleja
DG_07.010
ADAR, ARSA, ATN1, ATP13A2, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GLB1, GM2A, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1 POLG, PPT1, PRKN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SLC19A3, SLC20A2, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SUCLA2, TIMM8A, TPP1, TREX1, VPS13A, WDR45, XK, XPR1
DG Demencia
DG_07.011
APP, APOE, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP
Alzheimer
DG_07.012
APP, APOE, GRN, MAPT, PSEN1, PSEN2, TREM2
Demencia Semántica
DG_07.013
MAPT, PSEN1, PSEN2, TREM2
Demencia Frontotemporal
DG_07.014
CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP
Demencia Frontotemporal
DG_07.014-01
C9orf72
DG Motoneurona
DG_07.015
AGTPBP1, ALS2, ANG, ANXA11, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CCNF, CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, DES, DNAJB2, DYNC1H1, EPHA4, ERBB4, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, FUS, GARS1, GLE1, GLT8D1, HNRNPA1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, MATR3, MOBP, MYH14, NAIP, NEFH, NEK1, OPTN, PFN1, PLEKHG5, PON1, PON2, PON3, PPARGC1A, PRPH, REEP1, SCFD1, SEPSECS SETX, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBCE, TBK1, TREM2, TRIP4, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TUBA4A, UBA1, UBQLN2, UNC13A, VAPB, VCP, VRK1, VWA1
ELA (Esclerosis Lateral Amiotrófica)
DG_07.016
ALS2, ANG, ANXA11,CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, EPHA4, ERBB4, FIG4, FUS, GLE1, GLT8D1, HNRNPA1, MATR3, MOBP, NEFH,NEK1, OPTN, PFN1, PON1, PON2, PON3, PPARGC1A, PRPH, SCFD1, SETX, SIGMAR1, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, UNC13A, VAPB, VCP
Atrofia Muscular Espinal
DG_07.017
SMN1, SMN2
Demencia Frontotemporal con enfermedad de la motoneurona
DG_07.018
CHCHD10, FUS, SQSTM1, TARDBP, TBK1, VCP
DG Neuropatía
DG_07.019
AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, AP1S1, APOA1, APTX, AR, ARHGEF10, ARSA, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CD59, CHCHD10, CLCF1, CNTNAP1, COA7, COX10, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, DARS2, DCTN1, DCTN2, DCAF8, DGAT2, DEGS1, DHTKD1, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, ETFDH, FAH, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FLRT1, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXB, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, IARS2, IBA57, IGHMBP2, INF2, JPH1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDRG1, NEFH, NEFL, NGF, NOD2, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTRH2, RAB7A, RAI1, REEP1, RETREG1, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SOX5, SOX10, SPAST, SPTAN1, SPG11, SPG7, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XRCC1, YARS1, ZFYVE26
Enfermedad de Charcot-Marie-Tooth
DG_07.020
AARS1, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CNTNAP1, COA7, COX6A1, CTDP1, DCTN1, DCTN2, DCAF8, DGAT2, DHTKD1, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FBXO38, FGD4, FIG4, FLRT1, FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IBA57, IGHMBP2, INF2, KARS1, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, NAGLU, NDRG1, NEFH, NEFL OPA1, PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, RAI1, SBF1, SBF2, SCO2, SCYL1,SETX, SH3TC2, SIGMAR1, SGPL1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SORD, SOX5, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1
Neuropatía Motora
DG_07.021
AARS1, AGTPBP1, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, FBXO38, GARS1, GSN, HARS1, HEXB, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, MFN2, MORC2, PLEKHG5, REEP1, SETX, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SPTAN1, SYT2, TFG, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS1
Neuropatía Sensitiva
DG_07.022
ATL1, ATL3, DNMT1, DST, RETREG1, ELP1, KIF1A, NGF, NTRK1, PRDM12, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1
DG Miastenia Congénita
DG_07.023
AGRN, AK9, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DES, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MACF1, MUSK, MYO9A, PLEC, PREPL, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1
DG Miopatías
DG_07.024
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, ANO5, B3GALNT2, B4GAT1, BCS1L, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAVIN1, CCDC174, CCDC78, CFL2, CHCHD10, CHKB, CNBP, CNTN1, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DNMT3B, DPM2, DPM3, DUX4, DYSF, EARS2, ECHS1, EMD, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FHL1, FKRP, FKTN*, FLAD1, FLNC, FOXRED1, FRG1, GAA, GBE1, GFER, GIPC1, GMPPB, GNE, GYG1, GYS1, HACD1, HADHA, HADHB, HNRNPDL, HSPG2, ISCU, ITGA7, KIF21A, KLHL40, KLHL41, LAMA2, LARGE1, LDB3, LDHA, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LTBP4, MAMLD1, MAP3K20, MATR3, MGME1, MICU1, MSTO1, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYOT, MYPN, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NUBPL, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2A, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SDHA, SDHAF1, SDHB, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SLC16A1, SLC22A5, SLC25A32, SMCHD1, SPEG, STAC3, STIM1, SYNE1, SYNE2, TAFAZZIN, TCAP, TIA1, TIMMDC1, TK2, TMEM126B, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, TWNK, TYMP, VMA21, YARS2
Distrofia Muscular
DG_07.025
ACTA1, ANO5, B3GALNT2, B4GAT1, BVES, CAPN3, CHKB, CNBP, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DNAJB6, DNMT3B, DPM2, DPM3, DUX4, DYSF, EMD, FHL1, FKRP, FKTN*, FRG1, GIPC1, GMPPB, HNRNPDL, HSPG2, ITGA7, KIF21A, LAMA2, LARGE1, LIMS2, LMNA, LTBP4, MYH7, MYOT, NOTCH2NLC, PABPN1, PHOX2A, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, VMA21
Distrofia Facioescapulohumeral
DG_07.026
DNMT3B, DUX4, FHL1, FRG1, MYH7, SMCHD1.
Distrofinopatía (Duchenne y Becker)
DG_07.027
DMD
Distrofinopatía (Duchenne y Becker)
DG_07.027-01
DMD
Distrofia Muscular de Cinturas
DG_07.028
ANO5, BVES, CAPN3, CRPPA, DAG1, DNAJB6, DYSF, FKRP, FKTN*, GMPPB, HNRNPDL, LIMS2, MYOT, PLEC, POGLUT1, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN
Distrofia Muscular Oculofaringea
DG_07.029
PABPN1
Distrofia Emery-Dreifuss
DG_07.030
EMD, FHL1, LMNA, SYNE1, SYNE2, TMEM43, TTN
Distrofia Miotónica
DG_07.031
CNBP, DMPK
Miopatía Distal
DG_07.032
ANO5, CAV3, CRYAB, DES, DNAJB6, DYSF, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, NEB, TIA1, TCAP, TTN
Miopatía Congénita
DG_07.033
ACTA1, BIN1, CASQ1, CCDC174, CCDC78, CFL2, CNTN1, DNM2, FHL1, HACD1, ITGA7, KLHL40, KLHL41, LMOD3, MAMLD1, MAP3K20, MEGF10, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYPN, NEB, ORAI1, RYR1, SELENON, SPEG, STAC3, STIM1, TNNT1, TPM2, TPM3, TTN,
Miopatía Nemalínica
DG_07.034
ACTA1, CFL2, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3
Miopatía Central core
DG_07.035
RYR1
Miopatía Metabólica
DG_07.036
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, BCS1L, C1QBP, CACNA1S, CASQ1, CAVIN1, CHCHD10, CHKB, COQ2, COQ8A, COQ9, COX10 COX15, COX6A2, CPT2, DGUOK, DNA2, EARS2, ECHS1, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FLAD1, FOXRED1, GAA, GBE1, GFER, GYG1, GYS1, HADHA, HADHB, ISCU, LAMP2, LDHA, LIG3, LPIN1, MGME1, MICU1, MSTO1, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PNPLA2, PNPLA8, POLG, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, SDHA, SDHAF1, SDHB, SDHD, SLC16A1, SLC22A5, SLC25A32, TAFAZZIN, TIMMDC1, TK2, TMEM126B, TWNK, TYMP, YARS2
DG Leucodistrofia
DG_07.037
AARS2, ABCD1, ACER3, ACOX1, ADAR, AIFM1, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, COA8, CSF1R, CYP27A1, DARS1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HIKESHI, HSD17B4, HSPD1, IFIH1, ISCA2, LMNB1, MLC1, MTHFS, NADK2, NDUFA2, NKX6-2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, SAMHD1, SCP2, SLC17A5, SOX10, SUMF1, TREM2, TREX1, TUBB4A, TYROBP, UFM1, VPS11
DG Paraparesia Espástica
DG_07.038
ADAR, ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSA, ATAD3A, ATL1, ATP13A2, ATP2B4, B4GALNT1, BICD2, BSCL2, C19orf12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, HSPD1, IBA57, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, MAG, MARS1, MTRFR, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SELENOI, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TUBB4A, UBAP1, USP8, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27
Paraparesia Espástica AD Compleja
DG_07.039
ALDH18A1, ATAD3A, BICD2, BSCL2, DNM2, FAR1,KIF5A, KIDINS220, SPG7, TUBB4A, VCP
Paraparesia Espástica AD Pura
DG_07.040
ATL1, ATP2B4, CPT1C, KIF1A, ERLIN2, HSPD1, NIPA1, REEP1, REEP2, RTN2, SLC33A1, SPAST, SPG7, UBAP1, WASHC5, ZFYVE27
Paraparesia Espástica AR Compleja
DG_07.041
ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ARSA, ATP13A2, B4GALNT1, C19orf12, CAPN1, CCT5, DDHD2, DSTYK, ENTPD1, ERLIN2, FA2H, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, IBA57, KIF1A, KIF1C, KLC2,KLC4, KY, MAG, MARS1, MTRFR, NT5C2, PGAP1, PNPLA6, RAB3GAP2, SELENOI, SPART, SPG21, TECPR2, TFG, USP8, VPS37A, WDR48, ZFYVE26
Paraparesia Espástica AR Pura
DG_07.042
CYP7B1, DDHD1, ERLIN1, REEP2, SPG7, SPG11, SPG24, ZFR
Paraparesia Espástica Ligada al X
DG_07.043
L1CAM, PLP1, SLC16A2
DG Epilepsia
DG_07.044
AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADGRV1, ADRA2B, AFG3L2, AKT1, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARV1, ARFGEF2, ARHGEF9, ARX, ASAH1, ATP1A2, ATP1A3, ATP13A2, ATP6V1A, BRAT1, BRD7, BTD, C3orf33, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CCM2, CDKL5, CDK19, CELF2, CERS1, CHD2, CILK1, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6 , CLN8, CLCN2, CLTC, CNPY3, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CPLX1, CSTB, CTNND2, CTSD, CYFIP2, DALRD3, DCX, DEPDC5, DHDDS, DMXL2, DNAJC5, DNM1, EFHC1, EEF1A2, EPM2A, FANCL, FGF12, FGF13, FKRP, FKTN*, FLNA, FMR1, FOLR1, FOXG1, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAL, GBA, GJA3, GLI3, GNAQ, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, HEATR3, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNC1, KCNN2, KCNQ2, KCNQ3, KCNT1, LARGE1, LGI1, LMNB2, MAPK10, MECP2, MFSD8, NECAP1, NUS1, NEUROD2, NHLRC1, NPRL2, NPRL3, NTRK2, PAFAH1B1, PARS2, PCDH19, PCDH7, PDCD10, PHACTR1, PIK3CA, PIK3R2, PIGA, PIGP, PIGQ , PLCB1, PNKP, PNPO, POMT1, POMT2, POLG, PPT1, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RELN, RNASEH2A, RNASEH2B, RNASEH2C,SAMD12, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SIK1, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22, SLC33A1, SLC6A1, SNX27, SPTAN1, STXBP1, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TUBA1A, WDR45,WDR62, UBA5, YEATS2, WWOX, YWHAG, ZEB2
Epilepsia Neonatal e Infantil
DG_07.045
AARS1, ACTL6B, ADAR, ADGRV1, AP3B2, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CDKL5, CDK19, CELF2, CHD2, CILK1, CLCN2, CLTC, CNPY3, CNKSR2, CPLX1, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EFHC1, EEF1A2, FGF12, FGF13, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GLI3, GNAQ, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNQ2, KCNQ3, KCNT1, MAPK10, NECAP1, NUS1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, PPP3CA, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SPTAN1, ST3GAL3, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22,SPTAN1, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, WDR45, UBA5, WWOX, YWHAG
Encefalopatía Epiléptica
DG_07.046
AARS1, ACTL6B, ADAR, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CASK, CDK19, CDKL5, CELF2, CHD2, CLTC, CNKSR2, CNPY3, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EEF1A2, FGF12, FGF13, GABRA1, GABRG2, GABRA2, GABRA5, GABRB2, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1 , IQSEC2, KCNA1,KCNB1, KCNQ2, KCNT1, MAPK10, NECAP1, NEUROD2,NTRK2, NUS1, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PPP3CA, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A,SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22, SPATA5, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, UBA5, WWOX, WDR45
Epilepsia Generalizada
DG_07.047
ADGRV1, GABRD, GABRG2, HCN1, KCNMA1, SCN1A, SCN2A, SCN9A, SCN1B, STX1B
Epilepsia Generalizada con convulsiones febriles plus
DG_07.048
ADGRV1, GABRD, GABRG2, HCN1, SCN1A, SCN1B, SCN2A, SCN9A, STX1B
Epilepsia Focal
DG_07.049
AKT3, CCM2, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, COL4A1, COL4A2, CPA6, DEPC5, GAL, GNAQ, GRIN1, GRIN2A, GRIN2B, KCNT1, KCNQ2, NPRL2, NPRL3, PDCD10, PIK3CA, PIGA, PLCB1, RELN, SCN3A, SCN1A, SCN2A, SLC12A5, SLC25A22, TBC1D24
Epilepsia Mioclónica
DG_07.050
ADRA2B, AFG3L2, AP2M1, ASAH1, ATP13A2, CACNB4, CERS1, CHD2, CILK1, CLCN2, CLN3, CLN5, CLN6, CLN8, CNTN2, CTNND2, CPLX1, CSTB, CTSD, CTSF, DNAJC5, EFHC1, EPM2A, FOLR1, GABRA1, GABRD, GBA, GOSR2, GRN, JRK, KCNC1, KCTD7, KCNQ3, LMNB2, MFSD8, NHLRC1, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, SAMD12, SCARB2, SERPINI1, SLC2A1, SLC6A1, SNX27, SURF1, SYNGAP1, TBC1D24, TPK1, TPP1
Epilepsia Mioclónica del lactante y juvenil
DG_07.051
CPLX1, TBC1D24, CACNB4, CLCN2, CILK1, EFHC1, GABRA1, GABRD, JRK, KCNQ3
DG Trastorno Espectro Autista
DG_07.052
ADNP, ACHE, ACTB, ADA, ADCY3, ADSL, AFF2, AGAP2, AHDC1, AHNAK, AKAP9, ALDH5A1, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANXA1, AP2S1, APBB1, APH1A, ARHGEF9, ARID1B, ARX, ASAP2, ASH1L, ASPM, ASTN2, ASXL3, ATP10A, ATP2B2, ATRX, AUTS2, AVPR1A, BAZ2B, BCKDK, BCL11A, BICRA, BRAF, BRSK2, BTAF1, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CACNB2, CAPRIN1, CASK, CASZ1, CC2D1A, CCNG1, CCT4, CDC42BPB, CDH13, CDKL5, CELF4, CEP135, CEP41, CGNL1, CHAMP1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRNA7, CIB2, CIC, CLASP1, CNKSR2, CNOT1, CNOT3, CNR1, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CORO1A, CPEB4, CREBBP, CSDE1, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CYFIP1, DAPP1, DCC, DDHD2, DDX3X, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DLG2, DLG4, DLGAP1, DLX3, DMPK, DNMT3A, DOCK8, DPP10, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EBF3, EFR3A, EHMT1, EIF3G, ELAVL3, ELP2, ELP4, EMSY, EP300, EP400, ERBIN, ETFB, FBN1, FGFR1, FMR1, FOXG1, FOXP1, FOXP2, FRG1, GABRB2, GABRB3, GABRG3, GALNT10, GALNT8, GFAP, GGNBP2, GIGYF1, GIGYF2, GNAI1, GPC4, GPHN, GRIA1, GRIA2, GRID1, GRIK2, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, HDLBP, HECTD4, HECW2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HRAS, ICA1, ILF2, INTS6, IQSEC2, IRF2BPL, ITGB3, JARID2, KANSL1, KAT2B, KAT6A, KATNAL2, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNS3, KDM3B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0232, KIAA1586, KIF14, KIF1A, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, LAMB1, LDB1, LEO1, LMX1B, LRP1, LRRC4C, LZTR1, MACROD2, MAGEL2, MAP1A, MAPT-AS1, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MET, MFRP, MIR137, MKX, MSL3, MSNP1, MTOR, MYH10, MYH9, MYO5A, MYO9B, MYT1L, NAA15, NACC1, NAV2, NBEA, NCKAP1, NCOA1, NCOR1, NEXMIF, NF1, NFE2L3, NINL, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NRXN3, NSD1, NSD2, NUAK1, NUDCD2, NUP155, OPHN1, OR52M1, OTUD7A, OXTR, P2RX5, P4HA2, PACS1, PAH, PAK2, PARD3B, PAX5, PCCB, PCDH19, PER2, PHB1, PHF12, PHF2, PHF21A, PHF3, PHF7, PHIP, PHRF1, PLCB1, PLXNA4, PLXNB1, POGZ, POMGNT1, PON1, PPP1R9B, PPP2R5D, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKD2, PRKN, PRODH, PRR12, PSMD12, PTCHD1, PTCHD1-AS, PTEN, PTK7, PTPN11, PYHIN1, QRICH1, RAB2A, RAB43, RAI1, RALGAPB, RANBP17, RBFOX1, RBM27, RELN, RERE, RFX3, RIMS1, ROBO2, RORB, SAE1, SATB1, SBF1, SCAF4, SCN1A, SCN2A, SCN8A, SCN9A, SEMA5A, SET, SETBP1, SETD2, SETD5, SHANK1, SHANK2, SHANK3, SHOX, SIN3A, SIN3B, SKI, SLC12A5, SLC35B1, SLC38A10, SLC6A1, SLC6A3, SLC7A3, SLC7A5, SLC9A6, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCC2, SNX5, SON, SORCS3, SOX5, SPARCL1, SPAST, SPEN, SPTBN1, SRCAP, SRPRA, SRSF11, ST8SIA2, STXBP1, STXBP5, SUPT16H, SYN1, SYNGAP1, TAF6, TANC2, TAOK1, TAOK2, TBC1D31, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TEK, TERF2, TET2, TLK2, TM9SF4, TMLHE, TNRC6B, TRAF7, TRAPPC9, TRIM23, TRIO, TRIP12, TRPC6, TRPM1, TSC1, TSC2, TSHZ3, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC79, UPF3B, USP15, USP45, USP7, USP9X, VEZF1, VIL1, VPS13B, WAC, WDFY3, WDFY4, WWOX, ZBTB20, ZC3H4, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF292, ZNF462, ZNF804A
DG Discapacidad Intelectual
DG_07.053
AAAS, AASS, ABAT, ABCB11, ABCD1, ABHD5, ACADS, ACSL4, ADAT3, ADGRG1, ADSL, AGA, AGTR2, AHI1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMT, AP1G1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARSA ARX, ASH1L, ASPA, ASPM, ASXL1, ASXL3, ATP6AP2, ATP7A, ATP8A2, ATRX, AUH, B3GALNT2, B3GLCT, B3GNT2, B4GALT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, BRCA2, BRIP1, BRSK2, BRWD3, BSCL2, BTD, C12orf4, CA2, CA8, CACNA1C, CACNG2, CAMK2A, CAMK2B, CANT1, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CD96, CDH15, CDK5RAP2, CDKL5, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CHD7, CHKB, CHMP1A, CIC, CLIC2, CLIP1, CLN3, CLCN4, CLN5, CLN6, CLN8, CLTC, CNKSR2, COG1, COG4, COG5, COG6, COG7, COG8, COL2A1, COL4A1, COMP, COQ2, COQ4, COQ6, COQ8A, COQ9, CPLANE1, CPS1, CRADD, CRBN, CRPPA, CSNK2B, CSPP1, CTCF, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CYB5R3, CYP27A1, DARS2, DCPS, DCX, DDC, DDOST, DDX59, DHCR7, DKC1, DLG3, DLL1, DNAJC19, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPF2, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EDC3, EEF1A2, EIF2S3, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZR, FAM126A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN*, FLNA, FMN2, FOXG1, FOXL2, FRMPD4, FRRS1L, FTCD, FTSJ1, FUCA1, GABRG2, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GFAP, GJB1, GJB6, GJC2, GK, GLB1, GLDC, GLI3, GLYCTK, GM2A, GMPPB, GNAS, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPI, GRIA3, GRIK2, GRIN1, GRIN2B, GRM7,GSS, GUSB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNMT, HPRT1, HRAS, HSD17B10, HSPD1, HSPG2, HUWE1, HYAL1, HYLS1, IDS, IDUA, IGBP1, IL1RAPL1, INPP5E, INSR, IQSEC2, ITPR1, JAG1, KATNIP, KCNC3, KCNJ10, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1A, KIF7, KIRREL3, KMT2D, KNL1, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LARGE1, LINS1, LMAN2L, LRP5, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MBD5, MBOAT7, MCOLN1, MCPH1, MECP2, MED12, MED23, MED25, METTL23, MFSD8, MGAT2, MID1, MID2, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MVK, MYCN, MYO5A, MYT1L, NAA10, NAGLU, NBN, NBEA, NCDN, NDE1, NDP, NDST1, NECTIN1, NEMF, NEXMIF, NFIX, NGLY1, NHS, NIPBL, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NSD1, NSDHL, NSUN2, NTRK1, OCRL, OFD1, OPA3, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PAX3, PAX6, PCBD1, PCCA, PCDH19, PDHA1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHC1, PHF6, PHF8, PIBF1, PIGL, PLA2G6, PLP1, PMM2, PNKP, PNP, PNPO, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPT1, PPP3CA, PQBP1, PRKAR1A, PRICKLE2, PRPS1, PRSS12, PSAP, PTCH1, PTCHD1, PTEN, PTPN11, PTS, QDPR, RAB11A, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RARS2, RBM10, RECQL4, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPS6KA3, RSRC1, RXYLT1, SACS, SAMHD1, SAR1B, SARS1, SBDS, SC5D, SCN1A, SCN2A, SCN9A, SEMA3E, SEPSECS, SET, SETBP1, SETD1B, SGSH, SH3PXD2B, SHROOM4, SIL1, SLC12A2, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A22, SLC2A1, SLC45A1, SLC9A7, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX11, SOX3, SOX4, SPAST, SPG11, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STEEP1, STIL, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAT, TAOK1, TBCE, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TECR, TGFBR1, TGFBR2, TIMM8A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TNIK, TPI1, TPP1, TRAPPC9, TREM2, TREX1, TRIM32, TRPM3, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTC5, TTC8, TUBA1A, TUBB4A, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBE4A, UBR1, UFSP2, UMPS, UPF3B, UROC1, USP27X, USP9X, VLDLR, VPS13B, VRK1, WASHC4, WDPCP, WDR62, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZMYND11, ZNF335, ZNF423, ZNF711, ZNF81
Discapacidad Intelectual LX
DG_07.054
ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ALG13, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, STEEP1, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81.
Síndrome de X Frágil
DG_07.055
FMR1
Síndrome de Angelman
DG_07.056
15q11
Síndrome de Prader-Willi
DG_07.057
15q11
DG ataxias
DG_07.058
AAAS, ABCB7, ABHD12, ADGRG1, AFG3L2, AHI1, ALDH5A1,ANO10, APTX, ARL13B,ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN1, CA8, CACNA1A, CACNB4, CAMTA1, CC2D2A, CCDC88C, CEP290, CHMP1A, CHP1, CLCN2, CLN5, COA7, COQ2, COQ5, COQ8A, COQ9, COX20, CP, CRPPA, CSTB, CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5,EXOSC3, FAT2, FGF14, FLVCR1, FMR1, FXN, GALC, GBA2, GRID2, GRM1, GSS, TPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, L2HGDH, LARGE1, KIF1C, MARS2, MECP2, MRE11, MTPAP, MTTP, NEU1, NHLRC1, NKX6-2, NPC1, NPC2, NOP56, OPA1, OPA3, OPHN1, PAX6, PCNA, PDYN, PHYH, PIK3R5, PLA2G6, PLEKHG4, PNKP, PNPLA6, POLG, POLH, POMGNT2, PPP2R2B, PRICKLE1, PRKCG RARS2, RFC1, RNF170, RPGRIP1L, RUBCN, SACS, SAR1B, SEPSECS, SETX, SCN2A, SCN8A, SETX, SIL1, SLC17A5, SLC1A3, SLC2A1, SLC52A2, SLC9A6, SMPD1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TMEM67, TSEN2, TSEN54, TTBK2, TTPA, TPP1, TTBK2, TTPA, TUBB4A, TWNK, VAMP1, VLDLR, VLDLR, VPS13A, VWA3B, WDR81, WFS1, WWOX, ZNF592
DG Ataxias Autosómicas Dominantes Cerebelares
DG_07.059
AFG3L2, ATN1, ATP1A3, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN1, C9orf72, CACNA1A, DNMT1, EEF2, FGF12, FGF14, GRID2, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, TBP, TGM6, TMEM240, TTBK2, TUBB4A.
Ataxia Espinocerebelosa
DG_07.060
ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, PPP2R2B, TBP
Ataxia Espinocerebelosa Ampliado
DG_07.061
AFG3L2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN1, CACNA1A, EEF2, ELOVL5, FAT2, FGF14, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, STUB1, TBP, TGM6, TMEM240, TTBK2
Ataxia Espinocerebelosa Tipos SCA1, SCA2, SCA3, SCA6, SCA7
DG_07.062
ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7
Ataxia Espinocerebelosa sin Neuropatía Axonal
DG_07.063
COQ5, COQ8A, SMPD1, SYNE1, NPC1, NPC2
DG Ataxia Episódica
DG_07.064
ATP1A3, CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3
DG Ataxia Espástica
DG_07.065
AFG3L2, CHP1, KIF1C, MARS2*, MTPAP, NKX6-2, SACS, SPG7, VAMP1.
DG Ataxias Autosómicas Recesivas
DG_07.066
ANO10, APTX, ATM, CYP27A1, CWF19L1, FXN*, GRM1, PEX7, PHYH, PNPLA6, RFC1, RUBCN, SACS, SETX, SIL1, SLC52A2, SNX14, STUB1, SYNE1, TPP1, TTPA, TWNK, VWA3B, WFS1.
Ataxia Cerebelosa con Neuropatía Sensorial
DG_07.067
FXN*, POLG, TTPA
Ataxia de Friedreich
DG_07.068
FXN*
Ataxia Espinocerebelosa con Neuropatía Axonal
DG_07.069
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP.
Ataxia-telangiectasia
DG_07.070
ATM
DG Ataxias Ligadas al X
DG_07.071
ABCB7, CASK, FMR1*, OPHN1, SLC9A6.
Endocrinología
DG Diabetes
DG_08.001
ABCA1, ABCB4, ABCC8, ACAT1, ACSF3, AFF4, AGL, AGPAT2, AKT2, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, APC, APOA1, APOA5, APOC2, APPL1, AQP2, ARL6, AVP, AVPR2, B4GALT1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLK, BSCL2, CFAP418, CASR, CAV1, CAVIN1, CCDC28B, CDKN2A, CEL, CEP164, CEP290, CFTR, CIDEC, CISD2, COG1, COG4, COG5, COG6, COG7, COG8, COX4I2, CP, CPA1, CTRC, DCAF17, DDOST, DNAJC21, DNAJC3, DOLK, DPM1, DPM2, DPM3, DYRK1B, EFL1, EIF2AK3, ENO3, FBP1, FOS, FOXP3, G6PC1, GAA, GATA6, GBE1, GCK, GHR, GLIS3, GLUD1, GMPPA, GNE, GPIHBP1, GYG1, GYS1, GYS2, HADH, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HYMAI, IER3IP1, IFT172, IFT27, IFT74, INS, INSR, INVS, IQCB1, KCNJ11, KCNJ6, KLF11, LAMP2, LDHA, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPE, LMNA, LPL, LRP6, LZTFL1, MAN1B1, MC4R, MEF2A, MEN1, MGAT2, MKKS, MKS1, MOGS, MPDU1, MPI, MTTP, MTX2, NEUROD1, NEUROG3, NPHP1, NPHP3, NPHP4, NSMCE2, OXCT1, PALB2, PAX4, PC, PCK1, PCSK1, PCSK9, PDX1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PIK3R1, PLAGL1, PLIN1, PMM2, POMC, POLD1, POLR3A, PPARG, PPP1R3A, PPP1R15B, PRKAG2, PRSS1, PRSS2, PSMB8, PTF1A, PYGL, PYGM, RBCK1, RFT1, RFX6, SCAPER, SBDS, SDCCAG8, SLC16A1, SLC19A2, SLC2A2, SLC35A2, SMAD4, SPINK1, SRD5A3, SRP54, STAT3, TRIM32, TRMT10A, TTC8, UCP2, UCP3,WDPCP, WDR19, WFS1, XRCC4, YIPF5, ZFP57, ZMPSTE24
Diabetes Monogénica
DG_08.002
AVP, AQP2, AVPR2
Diabetes Mellitus Neonatal
DG_08.003
ABCC8, GCK, HYMAI, INS, KCNJ11, PDX1, PLAGL1, PTF1A, STAT3, ZFP57
Diabetes Mellitus Neonatal Sindrómica
DG_08.004
EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, HNF1B, IER3IP1, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX6, PTF1A, RFX6, SLC19A2, WFS1
Diabetes Insípida Nefrogénica
DG_08.005
AQP2, ARL6, AVPR2, BBS1, CCDC28B, VIPAS39, VPS33B
Hiperinsulinemia
DG_08.006
ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2
Diabetes tipo MODY
DG_08.007
ABCC8, APPL1, BLK, CEL, GCK, GLIS3, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1
Pancreatitis e Insufiencia Pancreática
DG_08.008
ABCB4, APC, APOA5, APOC2, CASR, CDKN2A, CFTR, COX4I2, CPA1, CTRC, DNAJC21, EFL1, GPIHBP1, LPL, MEN1, PALB2, RFX6, PRSS1, PRSS2, SBDS, SMAD4, SPINK1, SRP54
Lipodistrofia
DG_08.009
AGPAT2, AKT2, BANF1, BSCL2, CAV1, CAVIN1, CIDEC, FOS, KCNJ6, LIPE, LMNA, MTX2, PIK3R1, PLIN1, POLD1, POLR3A, PPARG, PSMB8, ZMPSTE24
DG Obesidad
DG_08.010
AFF4, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, CFAP418, CEP19, CEP290, CREBBP, CUL4B, DEAF1, DLK1, EIF2S3, EP300, FLII, GNAS, HDAC8, IFT172, IFT27, IFT74, INPP5E, IQSEC2, LAS1L, LDLR, LDLRAP1, LEP, LEPR, LIPA, LZTFL1, MAGEL2, MC4R, MEG3, MEGF8, MKKS, MKS1, NDN, NPHP1, NR0B2, OCA2, PAX6, PCNT, PCSK1, PCSK9, PHF6, PHIP, POMC, POU3F4, PRMT7, RAB23, RAI1, RPS6KA3, RTL1, SCAPER, SDCCAG8, SH2B1, SIM1, SNORD115-1, SNORD116-1, SNRPN, TRAPPC9, TRIM32, TTC8, VPS13B, WDPCP, WT1
Obesidad No Sindrómica
DG_08.011
CEP19, LEP, LEPR, MC4R, NR0B2, PCSK1, POMC, SH2B1, SIM1
DG Tiroides
DG_08.012
CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, DMXL2, DUOX2, DUOXA2, FOXE1, FOXI1, GCM2, GLIS3, HESX1, IGSF1, IYD, KAT6B, KCNJ10, KMT2D, LHX3, LHX4, MEN1, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, PTRH2, RET, SLC26A4, SLC5A5, TG, TPO, TRH, TRHR, TRPV6, TSHB, TSHR, UBR1
Hipertiroidismo
DG_08.013
TSHR
Hipotiroidismo
DG_08.014
DMXL2, DUOX2, DUOXA2, FOXE1, FOXI1, GLIS3, HESX1, IGSF1, IYD, KAT6B, KCNJ10, KMT2D, LHX3, LHX4, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, PTRH2, SLC26A4, SLC5A5, TG, TPO, TRH, TRHR, TSHB, TSHR, UBR1
Hiperparatiroidismo
DG_08.015
CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GCM2, MEN1, RET, TRPV6
DG Hiperplasia Adrenal
DG_08.016
CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, PRKAR1A, STAR
Enfermedad de Cushing
DG_08.017
CDH23, USP8
DG Hipogonadismo
DG_08.018
A2ML1, ABCD1, ANOS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BRCC3, CFAP418, CBL, CCDC141, CEP19, CEP290, CHD7, DCAF17, DDC, DMXL2, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FOXA2, FSHB, GLI2, GNRH1, GNRHR, HESX1, HS6ST1, IFT172, IFT27, IFT74, IL17RD, KISS1, KISS1R, KRAS, LEP, LEPR, LHX4, LMNA, LZTFL1, MAGEL2, MKKS, MKS1, MRAS, NDN, NDNF, NPHP1, NR0B1, NRAS, NSMF, OCA2, OTX2, PCSK1, PNPLA6, POLA1, POLR1C, POLR3A, POLR3B,POU1F1, PROP1, PROK2, PROKR2, PTPN11, RAB3GAP1, RAB3GAP2, RAF1, RASA2, RBM28, RIT1, RNF216, RRAS, RRAS2, SCAPER, SDCCAG8, SEMA3A, SEMA3E, SIM1, SMCHD1, SNRPN, SOS1, SOS2, SOX10, SOX3, SPRY4, TAC3, TACR3, TRIM32, TTC8, WDPCP, WDR11
Oncología
DG Cáncer Hereditario
DG_09.001
AIP, AKT1, ACD, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDH23, CDK4, CDKN1A, CDKN1B, CDKN1C, CDKN2A,CDKN2B, CDKN2C, CEBPA, CHEK2, CTNNA1, CTR9, CYLD, DDB2, DICER1, DIS3L2, ELAC2, ENG, EPCAM, EPHB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ESR2, FAAP100, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, FOXE1, GALNT12, GATA2, GPC3,GPC4, GREM1, HABP2, HNF1B, HOXB13, IL1B, IL1RN, KIF1B, KIT, KRT14, KRT5, MAD2L2, MAP3K6, MAX, MC1R, MEN1, MET, MGMT, MINPP1, MITF, MLH1, MLH3, MN1, MRE11, MSH2, MSH3, MSH6, MSMB, MSR1, MUTYH, NBN, NF1, NF2, NKX2-1, NTHL1, NTRK1, PALB2, PALLD, PDGFB, PDGFRA, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RABL3, RAD50, RAD51, RAD51C, RAD51D, RB1, REST, RECQL4, RET, RFWD3, RHBDF2, RNASEL, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPRED1, SRD5A2, SRGAP1, STK11, SUFU, TERF2IP, TERT, TGFBR2, TGM6, TMEM127, TP53, TRIM37, TSC1, TSC2, TYR, UBE2T, USF3, VHL, WT1, XPA, XPC, XRCC2, XRCC3
DG Cáncer de Mama y Ovario
DG_09.002
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MLH3, MRE11, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2
Cáncer de Mama y Ovario básico
DG_09.003
BRCA1, BRCA2
DG Cáncer Colorrectal
DG_09.004
APC, AXIN2, BMPR1A, ENG, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53
Cáncer Colorrectal No Polipósico (HPNCC)_Síndrome de Lynch
DG_09.005
EPCAM, MLH1, MSH2, MSH6, PMS2
Poliposis Adenomatosa Familiar (PAF)
DG_09.006
APC, MUTYH
Poliposis Adenomatosa Familiar Atenuada (PAF)
DG_09.007
APC, AXIN2, MSH3, MUTYH, NTHL1, POLD1, POLE
Poliposis Adenomatosa asociada a la lectura de prueba de la polimerasa (PPAP)
DG_09.008
POLD1, POLE
Síndrome de Poliposis Serrada
DG_09.009
RNF43
Síndrome de Poliposis Juvenil
DG_09.010
BMPR1A, ENG, PTEN, SMAD4
Síndrome de Hamartoma PTEN
DG_09.011
PTEN
DG Cáncer Gástrico
DG_09.012
APC, CDH1, CTNNA1, KIT, MAP3K6, PDGFRA, SDHB, SDHC, SDHD
Cáncer Gástrico Difuso Familiar
DG_09.013
APC, CDH1, CTNNA1, MAP3K6
Tumor Estromal Gastrointestinal
DG_09.014
KIT, PDGFRA
Cáncer de Páncreas Familiar
DG_09.015
BRCA1, BRCA2, PALB2, PALLD, RABL3
DG Cáncer Renal
DG_09.016
FH, FLCN, MET, VHL
Leiomatosis y Cáncer Renal Hereditario (HLRCC)
DG_09.017
FH
Carcinoma Renal Papilar Hereditario (HRPC)
DG_09.018
MET
DG Cáncer de Próstata
DG_09.019
ATM, BRCA1, BRCA2, CDH1, CHEK2, ELAC2, EPHB2, HNF1B, HOXB13, MLH1, MSH2, MSH6, MSMB, MSR1, NBN, PALB2, PMS2, RAD51D, RNASEL, SRD5A2
Cáncer Medular de Tiroides Familiar
DG_09.020
ESR2, NTRK1, RET
Cáncer No Medular de Tiroides Familiar
DG_09.021
FOXE1, HABP2, MINPP1, NKX2-1, SRGAP1
Neoplasia Endocrina Múltiple
DG_09.022
CDKN1A, CDKN1B, CDKN2B, CDKN2C, MEN1, RET
Feocromocitoma-paraganglioma hereditario
DG_09.023
KIF1B, MAX, NF1, RET, SDHD, SDHC, SDHB, SDHA, SDHAF2, TMEM127, VHL
Adenoma Hipofisiario Familiar
DG_09.024
AIP, CDH23
DG Cáncer de piel
DG_09.025
ACD, BAP1, CDKN2A, CDK4, CYLD, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, KRT14, KRT5, MC1R, MGMT, MITF, POLH, POT1, PTCH1, PTCH2, SUFU, TERF2IP, TERT, XPA, XPC
Melanoma Familiar
DG_09.026
ACD, BAP1, CDKN2A, CDK4, MC1R, MGMT, MITF, POT1, TERF2IP, TERT
Retinoblastoma
DG_09.027
RB1
Anemia de Fanconi
DG_09.028
BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAAP100, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2
Síndrome de Cowden
DG_09.029
AKT1, PIK3CA, PTEN, SDHB, SDHC, SDHD, SEC23B, USF3
Síndrome de Li Fraumeni
DG_09.030
TP53
Síndrome de Gorlin
DG_09.031
PTCH1, PTCH2, SUFU
Neurofibromatosis
DG_09.032
NF1, NF2, SPRED1.
Síndrome de Peutz-Jeghers
DG_09.033
STK11
Síndrome de Von-Hippel Lindau
DG_09.034
VHL
Síndrome de Birt-Hogg-Dubé
DG_09.035
FLCN
Síndrome de Lynch
DG_09.036
BRAF, EPCAM, MLH1, MLH3, MSH2, MSH6, PMS1, PMS2, TGFBR2
Síndrome de Carney-Stratakis
DG_09.037
SDHB, SDHC, SDHD
Síndrome de Carney
DG_09.038
PRKAR1A
Tumor de Wilms
DG_09.039
BLM, BRCA2, BUB1B, CDC73, CTR9, DICER1, DIS3L2, GPC3, GPC4, PALB2, PIK3CA, REST, TP53, TRIM37, WT1
Xeroderma Pigmentoso
DG_09.040
CYLD, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, KRT14, KRT5, POLH, XPA, XPC
Esclerosis Tuberosa
DG_09.041
TSC1, TSC2
Hematología
DG Trastorno Hemorrágico
DG_10.001
F8, F9, VWF
DG Trastorno Hemorrágico Ampliado
DG_10.002
ACVRL1, ENG, F2, F5, F7, F8, F9, F10, F11, F12, F13A1, F13B, FGA, FGB, FGG, GDF2, GGCX, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, KLKB1, KNG1, LMAN1, MCFD2, SERPINF2, SERPINE1, SMAD4, VKORC1, VWF
Hemofilia A inversión intrón 22
DG_10.003
F8
Hemofilia A
DG_10.004
F8
Hemofilia B
DG_10.005
F9
Enfermedad de von Willebrand
DG_10.006
GP1BA, VWF
Disfibrinogenemia Familiar
DG_10.007
FGA, FGB, FGG
DG Alteración Plaquetaría
DG_10.008
ACTN1, ANKRD26, AP3B1, AP3D1, ADAMTS13, BLOC1S3, BLOC1S5, BLOC1S6, CDC42, CYCS, DIAPH1, DTNBP1, ETV6, FLI1, FYB1, GATA1, GFI1b, GNE, GP1BA, GP1BB, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, IKZF5, ITGA2B, ITGB3, JAK2, KIF15, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, ORAI1, PLAU, PRKACG, RBM8A, RUNX1, SLFN14, SRC, STIM1, TBXA2R, THPO, TPM4, TRPM7, TUBB1, WAS, WIPF1
Trombocitopenia
DG_10.009
ACTN1, ANKRD26, AP3B1, ADAMTS13, BLOC1S3, BLOC1S5, BLOC1S6, CDC42, CYCS, DIAPH1, DTNBP1, ETV6, FLI1, FYB1, GATA1, GFI1b, GNE, GP1BA, GP1BB, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, IKZF5, ITGA2B, ITGB3, JAK2, KIF15, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, ORAI1, PLAU, PRKACG, RBM8A, RUNX1, SLFN14, SRC, STIM1, TBXA2R, THPO, TPM4, TRPM7, TUBB1, WAS, WIPF1
Trombocitopenia amegacariocítica congénita
DG_10.010
MPL, THPO
Síndrome de Hermansky-Pudlak
DG_10.011
AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
Síndrome de Bernard-Soulier
DG_10.012
GP9, GP1BA, GP1BB
Trombastenia de Glanzmann
DG_10.013
ITGA2B, ITGB3
DG Trombofilia
DG_10.014
F2, F5, F10, F12, F13A1, F13B, F7, F8, F9, FGA, FGB, FGG, HABP2, HRG, MTHFR, PLAT, PROC, PROS1, SERPINA10, SERPINC1, SERPIND1, SERPINE1, THBD
Trombofilia Tipo II (Factor V de Leiden)
DG_10.015
F5 1601G>A (c.1601G>A)
Trombofilia Tipo I (Protombrina)
DG_10.016
F2 20210G>A (c.*97G>A)
DG Eritrocitosis
DG_10.017
BPGM, EGLN1, EPAS1, EPO, EPOR, HBA1, HBA2, HBB, JAK2, SH2B3, VHL.
Eritrocitosis Familiar
DG_10.018
EPOR
Eritrocitosis Secundaria Congénita
DG_10.019
BPGM, EGLN1, EPAS1, EPO, HBA1, HBA2, HBB, VHL.
Policitemia vera
DG_10.020
JAK2
DG_Anemia Sideroblástica
DG_10.021
ABCB7, ALAS2, CISD2, FECH, GATA1, GLRX5, HSCB, HSPA9, LARS2, PUS1, SF3B1, SLC19A2, SLC25A38, STEAP3, TRNT1, UROS, WFS1, YARS2.
Anemia Sideroblástica No Sindrómicas
DG_10.022
SLC25A38, ALAS2, GLRX5, HSPA9, HSCB, SF3B1
Anemia Sideroblástica Sindrómicas
DG_10.023
ABCB7, CISD2, LARS2, PUS1, SLC19A2, TRNT1, WFS1, YARS2
DG Porfirias
DG_10.024
ALAD, ALAS2, CPOX, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS.
Protoporfiria Eritropoyétca
DG_10.025
ALAS2, FECH, GATA1, UROS
DG Anemia Diseritropoyética Congénita
DG_10.026
CDAN1, CDIN1, COX4I2, GATA1, KIF23, KLF1, LPIN2, RACGAP1, SEC23B, VPS4A
DG Anemia Aplásica
DG_10.027
ACD, BRCA1, BRCA2, BRIP1, CTC1, DKC1, DNAJC21, ELF1, ERCC4, FAAP100, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GATA1, MAD2L2, MPL, NHP2, NOP10, NPM1, PALB2, PARN, RAD51, RAD51C, RFWD3, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15a, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RTEL1, SBDS, SLX4, SRP54, SRP72, TERC, TERT, THPO, TINF2, TSR2, UBE2T, USB1, WRAP53, XRCC2.
Anemia de Diamond-Blackfan
DG_10.028
GATA1, RPL5, RPL9, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPS7, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, TSR2.
Disqueratosis Congénita
DG_10.029
ACD, CTC1, DKC1, NHP2, NOP10, NPM1, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
Síndrome de Shwachman-Diamond
DG_10.030
DNAJC21, ELF1, SBDS, SRP54
DG Anemia Hemolítica
DG_10.031
AK1, ALDOA, ANK1, BPGM, ENO1, EPB41, EPB42, G6PD, GCLC, GPI, GPX1, GSR, GSS, GYPC, HK1, HMOX1, KCNN4, MTTP, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, RHAG, SLC4A1, SPTA1, SPTB, TPI1, XK
DG Alteración membrana eritrocitaria
DG_10.032
ANK1, EPB41, EPB42, GYPC, KCNN4, PIEZO1, RHAG, SLC4A1, SPTA1, SPTB
Eliptocitosis Hereditaria
DG_10.033
EPB41, GYPC, SPTA1, SPTB.
Esferocitosis Hereditaria
DG_10.034
ANK1, EPB42, SLC4A1, SPTA1, SPTB.
Estomatocitosis Hereditaria
DG_10.035
KCNN4, PIEZO1, RHAG, SLC4A1
DG Eritroenzimopatías
DG_10.036
AK1, ALDOA, BPGM, ENO1, G6PD, GCLC, GPI, GPX1, GSR, GSS, HK1, HMOX1, NT5C3A, PFKM, PGK1, PKLR, TPI1
DG Talasemias
DG_10.037
GATA1, HBB, HBA1, HBA2, HBD
Alfa-talasemia
DG_10.038
HBA1, HBA2
Beta-talasemia
DG_10.039
HBB, GATA1
Beta-delta talasemia
DG_10.040
HBB, HBD
Anemia Falciforme
DG_10.041
HBB
DG Hemoglobinopatías
DG_10.042
CYB5A, CYB5R3, GATA1, HBA1, HBA2, HBB, HBD, HBG1, HBG2, KLF1
Síndrome de Persistencia de Hemoglobina Fetal
DG_10.043
HBG1, HBG2, KLF1
Metahemoglobinemia hereditaria
DG_10.044
CYB5A , CYB5R3
Hemoglobinopatía Toms River (cianosis neonatal)
DG_10.045
HBG2
DG Metabolismo del Fe2+
DG_10.046
ATP13A2, BMP2, C19orf12, CP, FA2H, FTH1, FTL, HAMP, HFE, HJV, PANK2, PLA2G6, SLC11A2, SLC40A1, TF, TFR2, TMPRSS6, WDR45.
Hemocromatosis Hereditaria
DG_10.047
HFE (C282Y, H63D, S65C)
Hemocromatosis Hereditaria Ampliado
DG_10.048
BMP2, HAMP, HFE, HJV, TFR2, SLC40A1
Dismorfología y Síndromes Polimalformativos
DG Osteogénesis Imperfecta
DG_11.001
ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DSPP, FGFR3, FKBP10, GORAB, IFITM5, KDELR2, LRP5, MBTPS2, MESD, NOTCH2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC26A2, SOX9, SP7, SPARC, TENT5A, TMEM38B, WNT1
DG Displasia Esquelética
DG_11.002
ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, AIFM1, ALPL, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSL, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CDC45, CDH3, CDKN1C, CDT1, CEP120, CEP290, CFAP410, CHST14, CHST3, CHSY1, CILK1, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CSTA, CTSK, CUL7, CYP27B1, DDR2, DHCR24, DHCR7, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DOCK6, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNLT2B, EBP, EED, EFTUD2, EIF2AK3, ENAM, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM83H, FBLN1, FBN1, FBN2, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FUCA1, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HDAC8, HES7, HESX1, HGSNAT, HOXA13, HOXD13, HPGD, HS2ST1, HSPG2, IDH1, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IKBKG, IL1RN, INPPL1, KAT6B, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, LARP7, LBR, LEMD3, LFNG, LHX4, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP3, MAFB, MAN2B1, MAP2K1, MAP2K2, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MNX1, MSX2, MTX2, MTAP, MYCN, NAGLU, NANS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NSD1, NSD2, NSDHL, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCNT, PCYT1A, PDE3A, PDE4D, PEX14, PEX19, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGV, PIK3C2A, PITX1, PKDCC, PITX2, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRKG2, PRMT7, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RAF1, RASGRP2, RBM8A, RBPJ, RECQL4, RIT1, RMRP, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SCUBE3, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHOC2, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOS1, SOST, SOX9, SP7, SPARC, SRCAP, SUMF1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCIRG1, TCOF1, TCTN3, TGDS, TGFB1, TGFB2, TGFB3, TGFBR2, TMEM165, TMEM216, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, UFSP2, WBP11, WDR19, WDR35, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, ZMPSTE24
Síndrome de Robinow
DG_11.003
DVL1, DVL3, NXN, ROR2, WNT5A
Displasia Epifisiaria Múltiple
DG_11.004
COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, RNU4ATAC, SLC26A2, UFSP2
Displasia Metafisiaria Múltiple
DG_11.005
COL10A1, DNAJC21, EFL1, MMP13, MMP9, PTH1R, RMRP, RUNX2, SBDS, SRP54
Acondroplasia
DG_11.006
FGFR3 (c.1138G>A /C)
Displasia Espondilometafisaria
DG_11.007
ACAN, ACP5, B3GALT6, BGN, CANT1, CHST3, CFAP410, COL11A2, COL2A1, DDR2, EIF2AK3, FN1, GPX4, KIF22, LBR, MATN3, MBTPS1, MMP13, NKX3-2, PAPSS2, PCYT1A, PLCB3, PRKG2, RPL13, SGMS2, SLC39A13, SMARCAL1, TRAPPC2, TRIP11, TRPV4, UFSP2
Condrodisplasia Punctata
DG_11.008
AGPS, ARSL, EBP, GNPAT, LBR, MGP, NSDHL, PEX14, PEX19,PEX5, PEX7
Síndrome de Cantu
DG_11.009
ABCC9, KCNJ8
Síndrome de Treacher Collins
DG_11.010
POLR1B, POLR1C, POLR1D, TCOF1
Sindrome de Coffin-Siris
DG_11.011
ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1
Síndrome de Pfeiffer
DG_11.012
FGFR1, FGFR2
DG Craneosinostosis
DG_11.013
ALPL, ALX4, ANKRD11, CBL, CD96, COLEC10, COLEC11, CTSK, CYP26B1, EFNB1, ERF, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FLNA, FREM1, FUZ, GLI3, HUWE1, IFT122, IFT43, IFT52, IL11RA, KAT6A, LTBP1, LRP5, MASP1, MEGF8, MSX2, P4HB, POR, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SKI, SMAD6, SMO, SOX9, TCF12, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1, ZNF462.
Síndrome de Shprintzen-Goldberg
DG_11.014
FBN1, SKI
DG Macrocefalia
DG_11.015
AKT1, AKT3, ASPA, BRWD3, CHD8, DHCR24,DNMT3A, EXT2, EZH2, GFAP, GPC3, HERC1, HEPACAM, HUWE1, KIF7, MED12, MITF, MLC1, MTOR, NFIB, NFIX, NONO, NSD1, OFD1, PAK1, PIGA, PIGN, PIK3CA, PIK3R2, PTEN, RAB39B, RIN2, RNF135, SYN1, TBC1D7, TRIO
Síndrome de Cowden
DG_11.016
PTEN
Sobrecrecimiento - Macrocefalia
DG_11.017
AKT1, AKT3, APC2, ASPA, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DICER1, DIS3L2, DNMT3A, EED, EZH2, FGFR3, GLI3, GPC3, GPC4, GRIA3, HEPACAM, HERC1, HRAS, HUWE1, IGF2, KIF7, L1CAM, MED12, MLC1, MPDZ, MTOR, NFIX, NSD1, PDGFRB, PHF6, PIK3CA, PIK3R2, PTCH1, PTEN, RNF125, RNF135, SETD2, SUFU, SUZ12, TGFB3, TSC1, TSC2, UPF3B
Síndrome de Sotos
DG_11.018
NSD1
Síndrome Beckwith-Wiedemann
DG_11.019
Region 11p15.5 (H19, IGF2, CDKN1C, KCNQ1)
DG Microcefalia
DG_11.020
ACTB, ACTG1, ALG12, ALG3, ANKLE2, AMPD2, ASNS, ASPM, ATR, ATRX, ASXL1, C2CD3, CASK, CKAP2L, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPF, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CLP1, COPB2, CREBBP, CTNNB1, DIAPH1, DNM1L, DNMT3A, DONSON, DPM1, DPP6, DYNC1H1, DYRK1A, EFTUD2, EIF2S3, ERCC4, ERCC6, EXOSC3, FANCA, IER3IP1, KIF11, KIF14, KIF1B, KIF2A, KIF5C, KNL1, LIG4, LMNB1, MBD5, MCPH1, MED17, MEIS2, METTL5, MFSD2A, MYCN, NCAPD3, NBN, NDE1, NHEJ1, NIN, NIPBL, ORC1, ORC4, ORC6, PAFAH1B1, PCNT, PCDH12, PHC1, PHGDH, PLK4, PNKP, POMT1, PQBP1, PSAT1, RAD21, RARS2, RBBP8, RNU4ATAC, RTTN, SASS6, SEPSECS, SLC25A19, SLC9A6, STAMBP, STIL, TAF13, TRAPPC10, TRAPPC14, TRMT10A, TSEN2, TSEN34, TSEN54, TUBB2B, TUBG1, TUBGCP4, TUBGCP6, VPS53, VRK1, WDR62,WDR73, XRCC4, ZEB2, ZNF335
Hipoplasia Pontocerebelosa
DG_11.021
AGTPBP1, AMPD2, ATAD3A, CASK, CHMP1A, CLP1, COASY, EXOSC1, EXOSC3, EXOSC8, EXOSC9, MINPP1, PCLO, PPIL1, PRDM13, RARS2, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS51, VPS53, VRK1,
Lisencefalia
DG_11.022
ACTB, ACTG1, ADGRG1, APC2, ARX, B3GALNT2, B4GAT1, CDK5, CEP85L, COL4A1, COL6A1, COL6A2, COL6A3, CRADD, CRPPA, DCX, DYNC1H1, EOMES, FKRP, FKTN*, FLNA, KATNB1, KIF2A, KIF5C, GMPPB, KATNB1, LAMA2, LAMB1, LARGE1, LMNA, MACF1, NDE1, PAFAH1B1, PHGDH, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, RXYLT1, SELENON, TBC1D20, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE
Polimicrogiria
DG_11.023
ADGRG1, AKT3, CCND2, FIG4, OCLN, PI4KA, PIK3R2, PTEN, RTTN, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3
Hidrocefalia
DG_11.024
AKT3, CCDC88C, CCND2, L1CAM, MPDZ, PIK3R2, TRIM71, ZIC2, ZIC3
Holoprosencefalia
DG_11.025
CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, PLCH1, PTCH1, SHH, SIX3, STAG2, STIL, SUFU, TDGF1, TGIF1, ZIC2
Megalencefalia
DG_11.026
AKT3, CCND2, HEPACAM, MLC1, PIK3CA, PIK3R2, STRADA, TBC1D7
DG Alteraciones Tejido Conectivo
DG_11.027
ABCC6, ABL1, ACTA2, ACVR1, ADA2, ADAMTS2, ADAMTSL4, ADAR, AEBP1, AKT1, ALDH18A1, ARF1, ARFGEF2, ASXL3, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BCR, BGN, BRAF, C12orf57, C1R, C1S, CAVIN1, CBS, CC2D2A, CHD7, CHRNG, CHST14, CHST3, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, CRB2, CYP11B1, CYP17A1, DNMT3A, DSE, EFEMP2, ELN, ENG, ENPP1, EPHB4, ERMARD, EXT1, EXT2, FARSB, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FMR1, FOXE3, GAA, GABRD, GANAB, GATA5, GGCX, GMPPB, HGD, HLA-B, HPGD, HRAS, IFIH1, IL12B, KANSL1, KCNH1, KCNJ8, LETM1, LMNA, LOX, LRP5, LTBP4, MARS2, MAT2A, MED12, MFAP5, MKS1, MMADHC, MNX1, MSTN, MTHFR, MTR, MTRR, MYH11, MYH3, MYLK, MYPN, NDE1, NEDD4L, NKX2-5, NOD2, NOTCH1, NPPA, NSD2, NSMCE2, OFD1, PAM16, PBX1, PCNT, PEX12, PIEZO2, PIGN, PIGY, PISD, PKD1, PKP2, PLOD1, PLOD3, POR, PPP1CB, PRDM16, PRDM5, PRKAR1A, PRKCSH, PRKG1, PTEN, PTPN11, PTPN22, RAF1, RERE, RET, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, ROBO4, RPGRIP1L, RYR2, SALL4, SAMHD1, SEC61A1, SEC63, SEMA3E, SKI, SLC25A24, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMS, SOX10, STAT1, STAT3, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TMTC3, TNXB, TPM2, TPM3, TREX1, TSC1, TSC2, UBR1, UPF3B, WDR19, ZDHHC9, ZMPSTE24, ZNF469
Síndrome de Cornelia de Lange
DG_11.028
BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3,
Síndrome CHARGE
DG_11.029
CHD7, SEMA3E
Síndrome de Cohen
DG_11.030
VPS13B
Síndrome de Rubinstein-Taybi
DG_11.031
CREBBP, EP300
Metabolopatías
DG Metabolismo Neonatal
DG_12.001
ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB ACADVL, ACAT1, ACOX1, ADA, AHCY, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CFTR, CPT1A, CPT2, CYP21A2, DBT, ETFA, ETFB, ETFDH, FAH, G6PC1, GAA, GALC, GALE, GALK1, GALT, GCH1, GCDH, GLA, GLDC, GNMT, GYS2, HADHA, HADHB, HBB, HCFC1, HLCS, HMGCL, HPD HSD17B10, IDUA, IVD, MAT1A, LMBRD1, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MTHFR, MTRR, NAGS, OTC, PAH, PCBD1, PCCA, PCCB, PTS, QDPR, SLC2A1, SLC22A5, SLC25A13, SLC25A20, TAT
DG Metabolismo Ampliado
DG_12.002
ABCA1, ABCB4, ABCD1, ABCD4, ABCG5, ABCG8, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, AGA, AGL, AGPS, AGXT, AHCY, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CFTR, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CPT2, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DDOST, DHCR7,DMP1, DOLK, DPAGT1, DPM3, DPYD, ENO3, ENPP1, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FECH, FGF23,FLAD1, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCH1, GCDH, GHR, GK, GLA, GLB1, GLDC, GM2A, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GRHPR, GUSB, GYG1, GYS1, GYS2, HADHA, HADHB, HBB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HGSNAT, HLCS, HMBS, HMGCL, HOGA1, HPD, HPRT1, HSD17B10,HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LIPI, LMBRD1, LPA, LPL, MAGT1, MGAT2, MAT1A, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MPI, MTHFR, MTRR, NAGA, NAGLU, NAGS, NEU1, NGLY1, NPC1, NPC2, OTC, PAH, PCBD1, PCCA, PCCB, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, PMM2, POR, PPOX, PPT1, PRKAG2, PSAP, PTS, PYGL, PYGM, QDPR, RBCK1, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SRD5A3, SUMF1, TAT, TFR2, TPP1, TUSC3, UGT1A1, UMPS, UROD, UROS
DG Acidurias
DG_12.003
ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ALDH5A1, ASPA, AUH, BTD, CLPB, D2HGDH, DNAJC19, ETFA, ETFB, ETFDH, FTCD, GCDH, HCFC1, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HTRA2, IDH2, IVD, L2HGDH, LMBRD1, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MVK, OPA3, OXCT1, PCCA, PCCB, PRDX1, SERAC1, SLC25A1, TAFAZZIN, TIMM50, UROC1.
Enfermedad de Canavan
DG_12.004
ASPA.
Acidurias 3-metilglutacónicas
DG_12.005
AUH, CLPB, DNAJC19, HTRA2, OPA3, SERAC1, TAFAZZIN, TIMM50.
Acidemia Glutárica Tipo I
DG_12.006
GCDH
Acidemia isovalérica
DG_12.007
IVD
Acidemia Metilmalónica aislada
DG_12.008
MCEE, MMAA, MMAB, MMADHC, MMUT
Aciduria Mevalónica
DG_12.009
MVK.
Aciduria Propiónica
DG_12.010
PCCA, PCCB.
Hiperamonemia
DG_12.011
ARG1, ASL, ASS1, CA5A, CPS1, GLUD1, IVD, MMAA, MMAB, MMUT, NAGS, OAT, OTC, PCCA, PCCB, SLC25A13, SLC25A15, SLC7A7
Hipofosfatasia
DG_12.012
ALPL, CLCN5, DMP1, ENPP1, FGF23, PHEX, SLC34A3
DG Metabolismo de los Metales
DG_12.013
ATP13A2, ATP7A, ATP7B, BMP2, C19orf12, CP, FA2H, FTH1, FTL, FXN, HAMP, HFE, HJV, PANK2, PLA2G6, SLC11A2, SLC40A1, TF, TFR2, TMPRSS6, WDR45.
Trastorno del Metabolismo del Cobre
DG_12.014
ATP7A, ATP7B
Enfermedad de Menkes
DG_12.015
ATP7A
Enfermedad de Wilson
DG_12.016
ATP7B
Enfermedades neurodegenerativas con acúmulo cerebral de hierro (ENACH)
DG_12.017
PANK2, PLA2G6, FA2H, ATP13A2, C19orf12, WDR45.
Trastorno del Metabolismo del Hierro
DG_12.017
ATP13A2, BMP2, C19orf12, CP, FA2H, FTH1, FTL, HAMP, HFE, HJV, PANK2, PLA2G6, SLC11A2, SLC40A1, TF, TFR2, TMPRSS6, WDR45.
DG Metabolismo de los Aa
DG_12.018
ALDH4A1, AMT, BCKDHA, BCKDHB, CBS, CTNS, DBT, DLD, FAH, FMO3, GCH1, GCSH, GLDC, GNMT, GSS, HGD, HPD, MAT1A, MTHFR, OCRL, PAH, PCBD1, PHGDH, PPM1K, PRODH, PTS, QDPR, QDPR, SLC25A15, SLC3A1, SLC6A9, SLC7A7, SLC7A9, SLC7A9, SUOX, TAT.
Enfermedad de la orina con olor a jarabe de arce
DG_12.019
BCKDHA, BCKDHB, DBT, DLD, PPM1K
Homocistinuria clásica
DG_12.020
CBS
Cistinosis
DG_12.021
CTNS
Tirosinemia (tipos I, II y III)
DG_12.022
FAH, HPD, TAT
Hiperfenilalaninemia no fenilcetonúrica
DG_12.023
GCH1, PCBD1, PTS, QDPR.
Fenilcetonuria
DG_12.024
PAH
Cistinuria
DG_12.025
SLC3A1, SLC7A9.
Alteraciones del Ciclo de la urea
DG_12.026
ARG1, ASL, ASS1, CPS1, GLUD1, NAGS, OTC, SLC25A13, SLC25A15
Enfermedad de Almacenamiento del Glucógeno (Glucogenosis)
DG_12.027
AGL, ALDOA, ENO3, G6PC1, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAG2, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4
Enfermedad por almacenamiento de glucógeno tipo 1a
DG_12.028
G6PC1
Glucogenosis Tipo II (Enfermedad de Pompe)
DG_12.029
GAA
Trastorno Metabolismo de la Fructosa
DG_12.030
ALDOB, FBP1, KHK
Galactosemia
DG_12.031
GALE, GALK1, GALM, GALT, GK
DG Trastorno Congénito de la Glicosilación
DG_12.032
ATP6V0A2, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V1A, ATP6V1E1, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, B4GAT1, CAD, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, CRPPA, DAG1, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, EXT1, EXT2, FKRP, FKTN*, GALNT3, GFPT1, GMPPA, GMPPB, GNE, GPAA1, KRT5, LARGE1, LFNG, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, NUS1, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGB, PIGG, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PMM2, POFUT1, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PSENEN, RFT1, RXYLT1, SEC23B, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC39A8, SRD5A3, SSR4, ST3GAL5, STT3A, STT3B, TMEM165, TMEM199, TUSC3, XYLT1.
DG Trastornos del metabolismo de los Lipidos
DG_12.033
ABCA1, ABCG5, ABCG8, ABHD12, ABHD5, AGK, AKR1D1, ALDH3A2, AMACR, APOA1, APOA5, APOB, APOC2, APOC3, APOE, ATL1, ATL3, BAAT, CCDC115, CERS1, CETP, CHKB, CYP27A1, CYP7A1, CYP7B1, DHCR24, DHCR7, EBP, ELOVL4, ELOVL5, EPHX1, GPIHBP1, HSD3B7, LBR, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPIN1, LPL, MSMO1, MTTP, MVK, NADK2, NSDHL, PANK2, PCSK9, PLA2G6, PNPLA2, PNPLA6, SAR1B, SC5D, SELENOI, SERAC1, SGPL1, SLC25A4, SLC27A5, SMPD1, SPTLC1, SPTLC2, ST3GAL5, TAFAZZIN, TJP2, TKFC, TMEM199
DG Oxidación de los ácidos grasos y cetogénesis
DG_12.034
ACADM, ACADS, ACADVL, ETFA, ETFB, ETFDH, FLAD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, SLC25A32.
DG Enfermedad lisosomal
DG_12.035
ACP2, AGA, ARSA, ARSB, ASAH1, ATP13A2, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSF, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNE, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SCARB2, SGSH, SLC17A5, SMPD1, SUMF1, TPP1, VPS33A
Enfermedad de Krabbe
DG_12.036
GALC, PSAP.
Enfermedad de Niemann-Pick
DG_12.037
NPC1, NPC2, SMPD1.
Enfermedad de Tay-Sachs
DG_12.038
HEXA
Mucolipidosis
DG_12.039
GNPTAB, GNPTG, MCOLN1*.
Enfermedad de Fabry
DG_12.040
GLA
Enfermedad de Gaucher
DG_12.041
GBA,
DG Mucopolisacaridosis (MPS)
DG_12.042
ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, NEU1, SGSH, VPS33A.
Mucopolisacaridosis Tipo I
DG_12.043
IDUA
Mucopolisacaridosis Tipo II
DG_12.044
IDS
Enfermedad de Sanfilippo (MPS III)
DG_12.045
GNS, HGSNAT, NAGLU, SGSH.
Enfermedad de Morquio (MPSIV)
DG_12.046
GALNS, GLB1.
Lipofuscinosis Neuronal Ceroidea
DG_12.047
CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1
DG Enfermedad Peroxisomal
DG_12.048
ABCD1, ABCD3, ACOX1, AGK, AGPS, AGXT, AMACR, ARSL, BCAP31, CAT, DNM1L, DYM, EBP, EHHADH, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT
Síndrome de Zellweger
DG_12.049
PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6
Adrenoleucodistrofia cerebral ligada al cromosoma X
DG_12.050
ABCD1
Deficiencia de acil CoA oxidasa peroxisomal
DG_12.051
ACOX1
DG Defectos de purinas y pirimidinas
DG_12.052
ADSL, DPYD, HPRT1, UMPS.
Síndrome de Lesch-Nyhan
DG_12.053
HPRT1.
DG Defectos relacionados con vitaminas
DG_12.054
ALDH7A1, BTD, DHFR, FOLR1, FTCD, MTHFR, MTHFS, PNPO, SLC19A3, SLC46A1.
DG Defectos de neurotransmisores y neuromoduladores
DG_12.055
ALDH5A1, GAMT, GATM, SLC2A1, SLC6A8.
Trastornos del metabolismo de piruvato
DG_12.056
DLAT, DLD, PC, PDHA1, PDHB, PDHX, PDP1.
Oftalmología
DG Oftalmo
DG_13.001
ABCA4, ABCC6, ABCD1, ACBD5, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, AGBL5, AHI1, AIPL1, ALMS1, ARHGEF18, ARL2BP, ARL6, ATF6, ATOH7, ATP1A3, ATP8A2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, PCARE, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP78, CEP164, CEP290, CEP41, CERKL, CFAP410, CFAP418, CHM, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL18A1, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, CP, CPLANE1, CRB1, CRPPA, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CTSD, CTSF, CWC27, CYP4V2, DHDDS, DNAJC5, DNML1, DRAM2, ECHS1, EFEMP1, ELOVL4, EXOSC2, EYS, FAM161A, FDXR, FGF8, FGFR1, FKRP, FLVCR1, FZD4, GALC, GALNS, GGCX, GJA1, GNAT1, GNAT2, GNPTG, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCY2D, HARS1, HESX1, HGSNAT, HK1, HMX1, IDH3B, IDS, IDUA, IFT140, IFT172, IFT27, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNJ13, KCNV2, KIAA0586, KIF11, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRP5, LZTFL1, MAK, MAPKAP3, MCAT, MCOLN1, MECR, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MT-ATP6, MT- ND1 , MT-ND4, MT-ND6, MT-TP, MTRFR, MVK, MYO7A, NBAS, NDP, NDUFS2, NEUROD1, NFIX, NMNAT1, NOD2, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, P3H2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PEX1, PEX10, PEX12, PEX13, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PLA2G5, PLK4, PNPLA6, POC1B, POMGNT1, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, RNU4ATAC, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SBF2, SCAPER, SDCCAG8, SEMA4A, SIX6, SLC19A2, SLC24A1, SLC25A46, SLC38A8, SLC7A14, SNRNP200, SPATA7, SPG11, SPG7, SRD5A3, SSBP1, TBCE, TCTN2, TIMM8A, TGFBI, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TPP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDR19, WDR34, WFS1, WHRN, YME1L1, ZNF408. ACBD5, ADAMTSL1, ADIPOR1, AFG3L2, AHR, AP3B2, AQP4, ARL3, ARMC9, ARSG, ATAD3A, ATP13A2, B3GALNT2, BBIP1, BRAT1, C5AR2, CASK, CDH16, CDK10, CEP250, CFH, CIB2, COL4A6, COL9A2, COL9A3, CTNNA1, DHX38, DNAJC17, DTHD1, EMC1, EPRS1, ESPN, FDX2, FIBP, FSCN2, GDF6, GNB3, GNS, GRID2, GUCA1B, HIKESHI, IFT43, IFT74, IFT80, IFT88, IFT81, ITM2B, KCTD7, KIAA1549, LAMA5, MAG, MFF, MIR-204, MRPS34, MT-TP, MT-TS2, NDUFA13, NEK2, NXNL1, PDZD7, PIK3R4, PITPNM3, PNPT1, POGZ, PRDM13, PSIP1, RAB11B, RAX2, RDH11, RP9, SDHA, SLC25A1, SLC52A2, SON, SPP2, TEAD1, TINF2, TUBA8, TUBB4B, TUBGCP4, TUBGCP6, UNC119, WDPCP, WDR60, ZNF423, ZNF513.
DG Distrofia de Retina
DG_13.002
ABCA4, ABHD12, ACBD5, ADAM9, ADGRA3, ADGRV1, ADIPOR1, AGBL5, AHI1, AHR, AIPL1, ALMS1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ATF6, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C2CD3, CA4, CABP4, CACNA1F, CACNA2D4, CBY1, CC2D2A, CCDC28B, CDH16, CDH23, CDHR1, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFAP418, CHM, CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL18A1, COL2A1, COL4A1, COL4A5, COL4A6, COL8A2, COL9A1, COL9A2, CPLANE1, CRB1, CRPPA, CRX, CSPP1, CTNNA1, CTSF, CYP4V2, CWC27, DHCR7, DHDDS, DHX38, DISP1, DNAJC17, DNAJC5, DRAM2, DTHD1, EDN3, EDNRB, ELOVL4, EMC1, ESPN, EXOSC2, EYS, FAM161A, FGF8, FGFR1, FLVCR1, FOXC1, FOXE3, FREM1, FREM2, FSCN2, FZD4, GABRB1, GALC, GAS1, GDF6,GGCX, GIPC3, GJA1, GLI2, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HESX1, HGSNAT, HK1, HMX1, HYLS1, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT74, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KARS1, KATNIP, KCNJ13, KCNV2, KCTD7, KIAA0586, KIAA0753, KIAA1549, KIF7, KIZ, KLHL7, LCA5, LHFPL5, LOXHD1, LRAT, LRIT3, LRP5, LYST, LZTFL1, MAK, MAPKAP3, MC1R, MERTK, MFRP, MFSD8, MITF, MKKS, MKS1, MMACHC, MVK, MYO7A, NDP, NEK2, NEUROD1, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OCA2, OFD1, OTX2, PANK2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHYH, PIBF1, PITPNM3, PITX2, PLA2G5, POC1B, POMGNT1, POMT1, PPT1, PRCD, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PTCH1, RAB28, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, SAG, SBF2, SCAPER, SDCCAG8, SEMA4A, SH3PXD2B, SHH, SIX3, SLC16A12, SLC24A1, SLC24A5, SLC45A2, SLC4A11, SLC4A4, SLC7A14, SNRNP200, SOX2, SOX3, SPATA7, SPP2, SUFU, TCTN1, TCTN2, TCTN3, TEAD1, TGFBI, TGIF1, TIMP3, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TNC, TOGARAM1, TOPORS, TPP1, TRAF3IP1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VCAN, WDPCP, WDR19, WFS1, WHRN, ZIC2, ZNF408, ZNF423, ZNF513
DG Retinitis pigmentosa
DG_13.003
ABCA4, ABHD12, ADGRA3, ADIPOR1, AGBL5, AHR, AIPL1, ARHGEF18, ARL2BP, ARL3, ARL6, BBS1, BBS2, BEST1, CA4, CACNA1F, CC2D2A, CDH16, CDHR1, CEP290, CERKL, CFAP418, CLRN1, CNGA1, CNGB1, CRB1, CRX, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, EMC1, EXOSC2, EYS, FAM161A, FLVCR1, FSCN2, GGCX, GNPTG, GUCA1B, HGSNAT, HK1, IDH3B, IFT140, IFT172, IFT43, IMPDH1, IMPG2, KCNJ13, KIAA1549, KIZ, KLHL7, LCA5, LRAT, MAK, MAPKAP3, MERTK, MVK, NEK2, NEUROD1, NR2E3, NRL, OFD1, PANK2, PCARE, PDE6A, PDE6B, PDE6G, PHYH, PLA2G5, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SLC24A1, SLC7A14, SNRNP200, SPATA7, SPP2, TEAD1, TOPORS, TRNT1, TTC8, TTPA, TULP1, USH1C, USH2A, WDR19, ZNF408, ZNF513
RP autosomico dominante
DG_13.004
ARL3, BEST1, CA4, CRX, FSCN2, GUCA1B, HK1, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RDH12, RHO, ROM1, RP1, RP9 (PAP1), RPE65, SEMA4A, SNRNP200, SPP2, TOPORS
RP autosomico recesiva
DG_13.005
ABCA4, ADGRA3, AGBL5, ARL6, ARL2BP, BBS1, BBS2, BEST1, CFAP418, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CYP4V2, DHDDS, DHX38, EMC1, EYS, FAM161A, HGSNAT, IDH3B, IFT140, IFT172, IMPG2, KIAA1549, KIZ, LRAT, MAK, MERTK, MFRP, MVK, NEK2, NEUROD1, NR2E3, NRL, PCARE, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, RBP3, RGR, RHO, RLBP1, RP1, RPE65, SAG, SPATA7, SLC7A14, TRNT1, TTC8, TULP1, USH2A, ZNF408, ZNF513
RP Ligado al X
DG_13.006
OFD1, RP2, RPGR
Amaurosis congénita de Leber
DG_13.007
AHI1, AIPL1, ALMS1, CABP4, CEP290, CLUAP1, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, PRPH2, SPATA7, TUBB4B, TULP1,
Síndrome de Usher
DG_13.008
ABHD12, ADGRV1, ARSG, CDH23, CEP78, CIB2, CLRN1, ESPN, GIPC3, HARS1, KARS1, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH1C, USH1G, USH2A, WHRN
Coroideremia
DG_13.009
CHM
Ceguera Nocturna Estacionaria
DG_13.010
CABP4, CACNA1F, CACNA2D4, GNAT1, GNB3, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RHO, SAG, SLC24A1, TRPM1
Distrofia retiniana de Conos y Bastones
DG_13.011
ABCA4, ADAM9, AIPL1, ALMS1, ATF6, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP250, CEP290, CFAP410, CFAP418, CERKL, CNGA3, CNGB3, CNNM4, CRX, DRAM2, GNAT2, GUCA1A, GUCY2D, IFT81, KCNV2, NMNAT1, OPN1LW, OPN1MW, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, RPGRIP1L, SEMA4A, TLCD3B, TTLL5, UNC119
Síndrome de Alström
DG_13.012
ALMS1, RPGRIP1L
Acromatopsia
DG_13.013
ABCA4, ADAM9, AIPL1, ATF6, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP290, CERKL, CFAP410, CFAP418, CNGA3, CNGB3, CNNM4, CRX, GNAT2, GUCA1A, GUCY2D, IFT81, KCNV2, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, UNC119
Síndrome de Alagille
DG_13.014
JAG1, NOTCH2
Síndrome de BARDET-BIEDL
DG_13.015
ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A, CCDC28B, CEP19, CEP290, CFAP418, GABRB1, IFT172, IFT27, IFT74, LZTFL1, MKKS, MKS1, NPHP1, SCAPER, SDCCAG8, TMEM67, TRIM32, TTC21B, TTC8, WDPCP
Lipofuscinosis neuronal ceroidea
DG_13.016
CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1
Síndrome de Joubert
DG_13.017
AHI1, ARL13B, ARL3, ARMC9, B9D1, B9D2, C2CD3, CBY1, CC2D2A, CEP41, CEP104, CEP120, CEP290, CPLANE1, CSPP1, HYLS1, IFT172, INPP5E, KATNIP, KIAA0586, KIAA0753, KIF7, MKS1, NPHP1, OFD1, PDE6D, PIBF1, POC1B, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM67, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TOGARAM1, TTC21B, ZNF423
Síndrome de Zellweger
DG_13.018
PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6
Síndrome de Alström
DG_13.019
ALMS1
Deficiencia de Cobalamina C
DG_13.020
MMACHC
Síndrome de Senior-Loken
DG_13.021
CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19
DG Distrofia Macular
DG_13.022
ABCA4, APOE, ARMS2, BEST1, C1QTNF5, C2, C3, C9, CDH3, CFB, CFH, CFHR1, CFHR3, CFI, CHST6, CNGB3, CST3, CTNNA1, CX3CR1, DRAM2, ELOVL4, ERCC6, FBLN5, FSCN2, HMCN1, HTRA1, IMPG1, IMPG2, MFSD8, PRDM13, PROM1, PRPH2, RAX2, RP1L1, RPGR, TIMP3, TLR3, TLR4
Enfermedad de Stargardt
DG_13.023
ABCA4
DG Distrofia Corneal
DG_13.024
CHST6, COL8A2, DCN, FOXE3, KRT3, KRT12, PIKFYVE, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1
DG Vitreorretinopatía
DG_13.025
ATOH7, BEST1, CAPN5, COL11A1, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CTNNB1, FZD4, KCNJ13, LOXL3, LRP5, NDP, NR2E3, PAK2, STN1, TSPAN12, VCAN, XYLT2, ZNF408
Síndrome de Stickler
DG_13.026
COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3
Atrofia Óptica
DG_13.027
ACO2, AFG3L2, CISD2, DNM1L, FDX2, FDXR, MCAT, MFN2, MTRFR, NBAS, NR2F1, OPA1, OPA3, PRPS1, RTN4IP1, SDHA, SLC25A46, SPG7, SSBP1, TIMM8A, TMEM126A, WFS1, YME1L1
Hipoplasia del nervio óptico
DG_13.028
ARNT2, FGFR1, HESX1, OTX2, PAX6, PROKR2, SOX2, SOX3, TUBA8
Neuropatía Óptica de Leber
DG_13.029
MT-ND1, MT-ND4, MT-ND6
Neuropatía Óptica
DG_13.030
ACO2, ARNT2, DNAJC30, DNM1L, FDXR, FGFR1, FLRT1, HESX1, IBA57,KLC2, MCAT, MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTRFR, NDUFS2, NR2F1, OPA1, OPA3, OTX2, PROKR2, RTN4IP1, SLC52A2, SLC52A3, SOX2, SOX3, TFG, TMEM126A
Oftalmoplejia Externa Progresiva
DG_13.031
MT-TL1, MT-TL2, MT-TN, MT-TS1, POLG, POLG2, RRM2B, SLC25A4, TK2, TWNK
Ectopia lentis
DG_13.032
ADAMTSL4, FBN1, LTBP2
Anoftalmia y Microftalmia
DG_13.033
ABCB6, ADAMTS18, ALDH1A3, B3GLCT, BCOR, BMP4, CHD7, COL4A1, COX7B, ERCC2, ERCC5, ERCC6, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GRIP1, HCCS, HESX1, HMGB3, HMX1, MAB21L2, MFRP, MITF, NAA10, NDP, OCRL, OTX2, PAX6, PORCN, PQBP1, PRSS56, RAB3GAP1, RARB, RAX, RBP4, SHH, SIX3, SIX6, SLC38A8, SMCHD1, SMOC1, SOX2, STRA6, TENM3, TFAP2A, VAX1, VPS13B, VSX2
Aniridia
DG_13.034
BDNF, FOXC1, ITPR1, PAX6, TRIM44, WT1
Disgenesia del segmento anterior
DG_13.035
CPAMD8, CYP1B1, FOXC1, FOXE3, PAX6, PITX2, PITX3, PXDN, VSX1
Síndrome de Axenfeld-Rieger
DG_13.036
FOXC1, PITX2
Coloboma
DG_13.037
ACTG1, ABCB6, CRIM1, FZD5, PAX6, SALL2,
Catarata Congénita
DG_13.038
AGK, ALDH18A1, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, DHCR7, EPHA2, ERCC6, EYA1, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GJA3, GJA8, HSF4, LIM2, LSS, MAF, MIP, NHS, P3H2, PAX6, PITX3, PXDN, SIL1, SLC16A12, SLC33A1, TDRD7, UNC45B, VIM, WFS1
DG Glaucoma
DG_13.039
ABCB6, ACTG1, ACVR1, ADAMTS10, ALDH1A3, ASB10, B3GLCT, BEST1, CANT1, COL18A1, COL8A2, CPAMD8, CRB1, CRPPA, CYP1B1, EFEMP1, FOXC1, FOXE3, FZD5, GRHL2, LMX1B, LOXL1, LTBP2, MFRP, MYOC, NDP, NTF4, OPTN, OTX2, OVOL2, PAX6, PITX2, PITX3, POMT1, RPS19, PRSS56, RAX, RS1, RRM2B, SALL2, SBF2, SH3PXD2B, SIX6, SOX2, SLC4A4, TEK, TMEM98, TRIM44, TTR, VSX1, WDR36, ZEB1
Glaucoma de inicio pediatrico
DG_13.040
ABCB6, ACTG1, ALDH1A3, B3GLCT, BEST1, COL8A2, CPAMD8, CRB1, CYP1B1, EFEMP1, FOXC1, FOXE3, FZD5, GRHL2, LTBP2, MFRP, MYOC, NDP, OTX2, OVOL2, PAX6, PITX2, PRSS56, RAX, RS1, SALL2, SIX6, SOX2, TEK, TMEM98, TRIM44, VSX1, ZEB1
Glaucoma congénito
DG_13.041
CYP1B1, LTBP2, MYOC, TEK
DG Albinismo
DG_13.042
AP3D1, GPR143, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MLPH, MYO5A, RAB27A
Albinismo oculo-cutáneo
DG_13.043
DCT, GPR143, LRMDA, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1
Síndrome de Hermansky-Pudlak
DG_13.044
AP3B1, AP3D1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
Otorrinolaringología
DG Otorrino
DG_14.001
ABCC1, ABHD12, ACTB, ACTG1, ADGRV1, AIFM1, ALMS1, AMMECR1, ANKH, AP1S1, ARSG, ATP1A3, ATP6V0A4, ATP6V1B1, BCAP31, BCS1L, BRAF, BSND, CABP2, CACNA1D, CCDC50, CDH23, CEACAM16, CEP78, CEP250, CHD7, CIB2, CISD2, CLCNKA, CLCNKB, CLDN14, CLPP, CLRN1, COCH, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL11A1, COL11A2, COLEC11, DCAF17, DDX11, DIABLO, DIAPH1, DMXL2, DNMT1, ECHS1, EDN3, EDNRB, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR3, FTO, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GSDME, HARS1, HARS2, HGF, HOXA1, HOXB1, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LARS2, LHFPL5, LHX3, LOXHD1, LRP2, LRTOMT, MARVELD2, MASP1, MET, MIR96, MITF, MPZL2, MSRB3, MT-CO1, MT-RNR1, MT-TH, MT-TK, MT- TL1, MT-TS1, MYH9, MYH14, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX2, PEX3, PEX5, PEX6, PEX26, PEX7, PHYH, PJVK, PLS1, POGZ, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPN11, PTPRQ, RAF1, RDX, RIPOR2, RMND1, SALL1, SERAC1, SERPINB6, SIX1, SLC17A8, SLC19A2, SLC26A4, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, SPATA5, STRC, SYNE4, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TRPV4, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2. ADCY1, AP3D1, ATP2B2, ATP6V1B2, BDP1, CATSPER2, CCS, CD151, CD164, CDC14A, CLIC5, COL4A6, COL9A2, COL9A3, COQ6, CRYM, DCDC2, DIAPH3, DSPP, ELMOD3, ERAL1, EPS8, EXOSC2, FBLN1, FGFR1, FGFR2, FOXI1, GRXCR2, GSTP1, GTF2IRD1, HMX2, HMX3, HOMER2, KITLG, MAF, MAFB, MARS2, MCM2, MSRB3, MT-CO3, MT-TA, MT-TE, MT-TS2, NDUFA13, NFIX, NTRK3, PANX1, PMP22, PNPT1, POLD1, PSIP1, PTPRD, RAI1, ROR1, S1PR2, SEMA3E, SEZ6, SIX5, SLC22A4, SLC26A5, SLC4A11, SLC44A4, SLC9A1, TBL1XR1, TK2, TMEM132E, TMPRSS5, TNC, TP63, TUBB4B, TWIST1, WBP2, YWHAH.
DG Hipoacusia NS
DG_14.002
ABCC1, ACTG1, ADCY1, AIFM1, ATP2B2, ATP6V1B2, BDP1, BSND, CABP2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA4, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GRXCR2, GSDME, HGF, HOMER2, ILDR1, KARS1, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MPZL2, MSRB3, MT-CO1, MT-ND1, MT-ND4, MT-RNR1, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TS1, MT-TS2, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PDE1C, PJVK, PLS1, PNPT1, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC44A4, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WBP2, WFS1, WHRN.
Hipoacucia NS AD
DG_14.003
ABCC1, ACTG1, ATP6V1B2, CCDC50, CD164, CEACAM16, COCH, COL11A2, CRYM, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, EYA4, GJB2, GJB3, GJB6, GRHL2, GSDME, HOMER2, KCNQ4, KITLG, MCM2, MIR96, MYH14, MYH9, MYO6, MYO7A, OSBPL2, P2RX2, PDE1C, PLS1, POU4F3, PTPRQ, RIPOR2, SIX1, SLC17A8, SLC44A4, TBC1D24, TECTA, TMC1, TNC, TRRAP, WFS1.
Hipoacucia NS AR
DG_14.004
ADCY1, ATP2B2, BDP1, BSND, CABP2, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COL11A2, DCDC2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRAP, GRXCR1, GRXCR2, HGF, ILDR1, KARS1, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MPZL2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PJVK, PNPT1, PPIP5K2, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SLC22A4, SLC26A4, SLC26A5, SLITRK6, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WBP2, WHRN.
Hipoacucia NS Ligada al X
DG_14.005
AIFM1, COL4A6, GPRASP2, POU3F4, PRPS1, SMPX
Hipoacucia NS Mitocondrial
DG_14.006
MT-CO1, MT-ND1, MT-ND4, MT-RNR1, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TS1, MT-TS2
DG Hipoacusia Sindrómica
DG_14.007
ABHD12, ACTB, ADGRV1, ALMS1, AMMECR1, ANKH, AP1S1, AP3D1, ARSG, ATP1A3, ATP6V0A4, ATP6V1B1, BCAP31, BCS1L, CACNA1D, CD151, CDH23, CEP78, CEP250, CHD7, CIB2, CISD2, CLCNKA, CLCNKB, CLPP, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, COLEC11, COQ6, DCAF17, DDX11, DNMT1, ECHS1, EDN3, EDNRB, ERAL1, ESPN, EXOSC2, EYA1, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, FTO, GATA3, HARS1, HARS2, HOXA1, HOXB1, KARS1, KCNQ1, KCNE1, KCNJ10, KITLG, LARS2, LHFPL5, LHX3, LOXHD1, LRP2, MAF, MAFB, MARS2, MASP1, MITF, MYO7A, NDP, NDUFA13, NF2, NLRP3, OPA1, PAX3, PCDH15, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PMP22, PHYH, POGZ, POLD1, PTPN11, RAI1, RMND1, SALL1, SERAC1, SIX5, SLC19A2, SLC26A4 ,SLC33A1, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SNAI2, SOX10, SPATA5, TIMM8A, TNC, TRPV4, , TUBB4B, TWIST1, USH1C, USH1G, USH2A, WFS1, WHRN, XYLT2
Síndrome de Waardenburg
DG_14.008
EDN3, EDNRB, KITLG, MITF, PAX3, SNAI2, SOX10, TYR
Síndrome branquio-oto-renal
DG_14.009
EYA1, SIX1, SIX5
Síndrome de Pendred
DG_14.010
FOXI1, KCNJ10, SLC26A4
Síndrome de Jervell y Lange-Nielsen
DG_14.011
KCNQ1, KCNE1
Síndrome de Alport
DG_14.012
COL4A3, COL4A4, COL4A5
Síndrome de Mohr-Tranebjaerg
DG_14.013
TIMM8A
Síndrome de Alström
DG_14.014
ALMS1
Síndrome de Wolfram
DG_14.015
CISD2, WFS1
Síndrome de Perrault
DG_14.016
HARS2, HSD17B4, LARS2
Preventivo
DG Preventive Premium
DP_001.01
ABCA3, ABCA4, ABCC8, ABCC9, ABCD1, ABCG5, ABCG8, ACADM, ACADVL, ACAT1, ACTA2, ACTC1, ACTN2, ACVRL1, AFF2, AGA, AGXT, AHI1, AIP, AIRE, AKAP9, AKT1, ALDOB, ALPK3, ALPL, ANK2, ANO10, APC, APOB, AR, ARSA, ARX, ASL, ASPA, ATM, ATP7B, AXIN2, BAG3, BAP1, BARD1, BBS1, BBS2, BCKDHB, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BTD, CACNA1C, CACNA1S, CACNB2, CALM1, CALM2, CALM3, CAPN3, CASQ2, CAV3, CBS, CC2D2A, CCDC88C, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEP290, CFTR, CHEK2, CHRNE, CLCN1, CLRN1, CNGB3, COL3A1, COL4A3, COL4A4, COL7A1, CPT2, CRB1, CRYAB, CSRP3, CTR9, CYP11A1, CYP21A2, CYP27A1, CYP27B1, DCLRE1C, DDB2, DES, DHCR7, DHDDS, DICER1, DLD, DMD, DPP6, DSC2, DSG2, DSP, DTNA, DYNC2H1, EFEMP2, ELN, ELP1, EMD, ENG, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EVC2, F2, F5, F8, F9, FAH, FANCC, FBN1, FBN2, FH, FHL1, FKRP, FKTN, FLCN, FLNA, FLNC, FMO3, G6PC, G6PD, GAA, GALNS, GALT, GBA, GBE1, GDF2, GJA5, GJB2, GLA, GNPTAB, GNRHR, GPD1L, GREM1, GRIP1, HABP2, HBA1, HBA2, HBB, HCN4, HEXA, HFE, HGSNAT, HNF1A, HOXB13, HPS1, HPS3, IDUA, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, KIT, L1CAM, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LIPA, LMNA, LOX, LRP2, MAX, MCCC2, MCOLN1, MCPH1, MEFV, MEN1, MET, MFAP5, MIB1, MID1, MITF, MLC1, MLH1, MLH3, MMACHC, MMUT, MSH2, MSH3, MSH6, MUTYH, MVK, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYO7A, MYOZ2, MYPN, NAGA, NBN, NEB, NEXN, NF1, NF2, NKX2-5, NOTCH1, NPHS1, NPPA, NR0B1, NTHL1, OCA2, OTC, OTOF, PAH, PALB2, PCDH15, PCSK9, PDGFRA, PIK3CA, PKHD1, PKP2, PLN, PLP1, PMM2, PMS1, PMS2, POLD1, POLE, POLG, POLH, PPCS, PRDM16, PRF1, PRKAG2, PRKAR1A, PRKG1, PRSS1, PSEN1, PTCH1, PTCH2, PTEN, RAD51, RAD51C, RAD51D, RAF1, RARS2, RB1, RBM20, RET, RNASEH2B, RPE65, RPGR, RPS20, RS1, RYR1, RYR2, SAG, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SERPINA1, SGCD, SKI, SLC19A3, SLC26A2, SLC26A4, SLC2A10, SLC37A4, SLC6A8, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMPD1, SNTA1, SPG7, SPINK1, STK11, SUFU, TCAP, TECRL, TF, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM127, TMEM216, TMEM43, TMPRSS3, TNNC1, TNNI3, TNNT2, TNXB, TP53, TPM1, TRDN, TRPM4, TSC1, TSC2, TSHR, TTN, TTR, TYR, USF3, USH2A, VCL, VHL, WT1, XPA, XPC
DG Preventive Essential
DP_001.02
ACTA2, ACTC1, ACVRL1, APC, APOB, ATP7B, BAG3, BMPR1A, BRCA1, BRCA2, BTD, CACNA1S, CASQ2, COL3A1, DES, DSC2, DSG2, DSP, ENG, FBN1, FLNC, GAA, GLA, HFE, HNF1A, KCNH2, KCNQ1, LDLR, LMNA, MAX, MEN1, MLH1, MSH2, MSH6, MUTYH, MYBPC3, MYH11, MYH7, MYL2, MYL3, NF2, OTC, PALB2, PCSK9, PKP2, PMS2, PRKAG2, PTEN, RB1, RBM20, RET, RPE65, RYR1, RYR2, SCN5A, SDHAF2, SDHB, SDHC, SDHD, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, TMEM127, TMEM43, TNNC1, TNNI3, TNNT2, TP53, TPM1, TRDN, TSC1, TSC2, TTN, TTR, VHL, WT1
DG Preventive Cardio
DP_001.03
ABCC9, ABCG5, ABCG8, ACTA2, ACTC1, ACTN2, ACVRL1, AKAP9, ALPK3, ANK2, APOB, BAG3, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, COL3A1, CRYAB, CSRP3, DES, DMD, DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, ELN, EMD, ENG, F2, F5, F9, FBN1, FBN2, FHL1, FKTN, FLNA, FLNC, GAA, GDF2, GJA5, GLA, GPD1L, HCN4, HFE, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LIPA, LMNA, LOX, MFAP5, MIB1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYOZ2, MYPN, NEXN, NKX2-5, NOTCH1, NPPA, PCSK9, PKP2, PLN, PPCS, PRDM16, PRKAG2, PRKG1, PSEN1, RAF1, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SNTA1, TCAP, TECRL, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, VCL
DG Preventive Cancer
DP_001.04
AIP, AKT1, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTR9, DDB2, DICER1, ENG, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FH, FLCN, GREM1, HABP2, HOXB13, KIT, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD51, RAD51C, RAD51D, RB1, RET, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SMAD4, SMARCA4, SMARCB1, SPINK1, STK11, SUFU, TGFBR2, TMEM127, TP53, TSC1, TSC2, USF3, VHL, XPA, XPC, WT1
DG Exome® y DG Clinical Exome®
Ofrecemos estudios de exoma completo y exoma clínico para casos complejos que abarcan todas las especialidades médicas


















Estudios genéticos
Te ofrecemos un amplio catálogo de pruebas en diferentes especialidades médicas
Buscador de estudios genéticos
Encuentra el estudio que te interesa en nuestra base de datos.
Puedes realizar la búsqueda por fenotipo y por gen.
DG Exome® y DG Clinical Exome®
Ofrecemos estudios de exoma completo y exoma clínico que abarcan todas las especialidades médicas


















Estudios genéticos
Descubre los diferentes tipos de estudios genéticos que ponemos a tu disposición
Buscador de
estudios genéticos
Encuentra el estudio que te interesa en nuestra base de datos.
DG Exome® y DG Clinical Exome®
Ofrecemos estudios de exoma completo y exoma clínico que abarcan todas las especialidades médicas

















