



Neurología

Resultado búsqueda
Agenesia del cuerpo calloso
30 genes
ACTB, ALX3, AMER1, ARX, CDK5RAP2, CIT, CREBBP, CYP11A1, DCX, DHCR24, ERCC6, FIG4, GLI3, GPC3, HCCS, KAT6B, L1CAM, LRP2, MED12, MID1, MRPS16, NDE1, PTCH1, SLC12A6, SLC25A1, SOX2, SPECC1L, VAX1, WNT3, ZIC1
Amiloidosis familiar
21 genes
APOA1, APOA2, APP, B2M, CST3, F10, FGA, GPNMB, GSN, IL31RA, ITM2B, LYZ, MEFV, NLRP3, OSMR, PRNP, RET, TACSTD2, TGFBI, TNFRSF1A, TTR
Amiloidosis hereditaria por transtiretina
1 genes
TTR
Anomalías de la morfogénesis cerebral
203 genes
ACTB, ACTG1, ADGRG1, AHI1, AKT1, AKT3, ALDH7A1, AMPD2, ANOS1, APOE, APP, ARFGEF2, ARID1B, ARX, ASNS, ASPM, B3GALNT2, B4GAT1, BDNF, C2CD3, CASK, CC2D2A, CCND2, CDK5, CDK5RAP2, CDKN1C, CDON, CENPJ, CEP152, CEP290, CEP41, CHD7, CHMP1A, CLP1, CNTNAP2, COL18A1, COL4A1, COL4A2, CPT2, CREBBP, CRPPA, DAG1, DCHS1, DCX, DOK7, DYNC1H1, DYRK1A, EMX2, EOMES, ERCC2, ERMARD, EXOSC3, EZH2, FAT4, FGF8, FGFR1, FGFR3, FH, FKRP, FKTN, FLNA, FMR1, FOXG1, FOXH1, GLI2, GLI3, GLUL, GMPPB, GPC3, GPSM2, HESX1, HUWE1, IER3IP1, ITGA3, JAM3, KATNB1, KIF2A, KIF5C, KIF7, KIFBP, L1CAM, LAMA2, LAMB1, LAMC3, LARGE1, MBD5, MCPH1, MECP2, MED12, MEF2C, MID1, MKS1, MLYCD, MPDZ, MSH2, MTOR, MYCN, NDE1, NFIX, NODAL, NPHP1, NSD1, NSDHL, NSMF, OCLN, OFD1, OPHN1, OTX2, PAFAH1B1, PANK2, PAX2, PAX6, PEX1, PEX10, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX7, PHGDH, PIK3CA, PIK3R2, PNKP, POLG, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, PRRX1, PTCH1, PTEN, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RELN, RPGRIP1L, RPS6KA3, RTTN, RXYLT1, SCN1A, SCN2A, SEMA3A, SEPSECS, SHANK3, SHH, SIX3, SLC12A6, SLC25A19, SMC1A, SNAP29, SOX11, SOX2, SOX3, SPTAN1, SRD5A3, SRPX2, STIL, STXBP1, SYNGAP1, TBC1D20, TBC1D24, TBX1, TCTN3, TGIF1, TMEM138, TMEM216, TMEM237, TMEM67, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, UBE3A, UBTF, UPF3B, VLDLR, VRK1, WDR62, WDR81, WNT1, YWHAE, ZEB2, ZIC2
Artrogriposis ampliado
126 genes
ACTA1, ADCY6, ADGRG6, AGRN, ALG14, ALG2, ALG3, ANTXR2, ARX, ASCC1, ATAD1, BICD2, BIN1, CACNA1E, CDK5, CHAT, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CNTN1, CNTNAP1, COG8, COL6A1, COL6A2, COL6A3, COLQ, DHCR24, DNM2, DOK7, DPAGT1, DYNC1H1, ECEL1, EGR2, ERBB3, ERCC1, ERCC5, ERCC6, ERGIC1, EXOSC3, FBN1, FBN2, FKBP10, FKRP, FKTN, FLVCR2, GBA, GBE1, GFPT1, GLDN, GLE1, GMPPB, IGHMBP2, ISLR2, KAT6B, KIAA1109, KIF14, KIF5C, KLHL40, KLHL41, LAMA2, LGI4, LMNA, LMOD3, LRP4, MAGEL2, MET, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH8, MYOD1, NALCN, NEB, NEK9, NMNAT2, NUP88, PDHA1, PI4KA, PIEZO2, PIP5K1C, PLOD2, POMGNT2, PPP3CA, RAPSN, RIPK4, RYR1, SCARF2, SCN4A, SELENON, SKI, SLC35A3, SLC39A13, SLC5A7, SLC6A9, SOX10, SYNE1, SYT2, TGFB3, TNNI2, TNNT1, TNNT3, TOR1A, TPM2, TPM3, TRIP4, TRPV4, TSEN54, TTN, TUBB2A, TUBB2B, UBA1, UNC50, VAMP1, VIPAS39, VPS33B, ZBTB42, ZC4H2, ZMPSTE24
Artrogriposis distales
13 genes
CHST14, ECEL1, FBN2, MYBPC1, MYH2, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2, UBA1
Ataxia ampliado
398 genes
AAAS, AARS2, ABCB7, ABCD1, ABHD12, ACO2, ADGRG1, ADPRS, AFG3L2, AGTPBP1, AHI1, ALDH5A1, ALG6, ALG8, AMACR, AMPD2, ANO10, AP5Z1, APTX, ARL13B, ARL3, ARL6, ARMC9, ARSA, ASL, ATCAY, ATG5, ATM, ATP1A3, ATP2B3, ATP7B, ATP8A2, AUH, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHB, BCS1L, BEAN1, BTD, C12ORF4, C12ORF65, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CASK, CAV1, CC2D2A, CCDC88C, CEP104, CEP120, CEP290, CEP41, CHCHD10, CHMP1A, CHP1, CLCN2, CLN3, CLN5, CLN6, CLN8, CLPP, COA7, COA8, COASY, COG8, COQ5, COQ8A, COQ9, COX14, COX20, COX6B1, CP, CPLANE1, CPS1, CSPP1, CSTB, CTBP1, CTC1, CTDP1, CTSD, CTSF, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAB1, DARS2, DBT, DDHD2, DLAT, DLD, DNAJC19, DNAJC3, DNAJC5, DNMT1, DOCK3, EBF3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EP300, EPM2A, ERCC2, ERCC4, ERCC5, ERCC6, EXOSC3, EXOSC8, FA2H, FASTKD2, FAT1, FAT2, FBXL4, FDXR, FGF12, FGF14, FLVCR1, FMR1, FOLR1, FOXRED1, FTL, FXN, GALC, GAMT, GAN, GBA, GBA2, GCH1, GDAP2, GFAP, GJB1, GJC2, GLB1, GLRX5, GMPPB, GOSR2, GPAA1, GRID2, GRM1, GRN, GSS, HARS2, HCN1, HEPACAM, HEXA, HEXB, HIBCH, HOXD13, HSD17B4, IFRD1, INPP5E, IRF2BPL, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCTD7, KIAA0556, KIAA0586, KIF1A, KIF1C, KIF26B, KIF7, KLC2, L2HGDH, LAMA1, LARS2, LMNB1, LMNB2, LRPPRC, MAN2B1, MARS2, MECP2, MECR, MFSD8, MGME1, MKKS, MKS1, MLC1, MMACHC, MMADHC, MME, MPV17, MRE11, MSTO1, MTCL1, MTFMT, MTPAP, MTTP, MVK, NBN, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NFASC, NFU1, NHLRC1, NKX2-1, NKX6-2, NOL3, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPA3, OPHN1, OTC, PANK2, PAX6, PCDH12, PCNA, PDE6D, PDHA1, PDHX, PDYN, PEX10, PEX16, PEX2, PEX6, PEX7, PHYH, PIBF1, PIK3R5, PLA2G6, PLD3, PLEKHG4, PLP1, PMM2, PMPCA, PNKD, PNKP, PNPLA6, POLG, POLR1C, POLR3A, POLR3B, PPT1, PRF1, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PRX, PSEN1, PTF1A, PTRH2, PTS, PUM1, RARS1, RARS2, RFC1, RNF170, RNF216, RPGRIP1L, RRM2B, RTN4IP1, RUBCN, SACS, SAMD9L, SCN1A, SCN2A, SCN8A, SCO1, SCYL1, SDHA, SDHAF1, SEPSECS, SERAC1, SETX, SIL1, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC20A2, SLC25A15, SLC25A46, SLC2A1, SLC30A9, SLC33A1, SLC35A1, SLC35A2, SLC46A1, SLC52A2, SLC52A3, SLC6A1, SLC6A19, SLC9A1, SLC9A6, SMPD1, SNAP25, SNX14, SOD1, SPG11, SPG7, SPR, SPTBN2, SQSTM1, SRD5A3, STUB1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYT14, TACO1, TANGO2, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TGM6, TH, THG1L, TIMM8A, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPK1, TPP1, TRIM32, TRIO, TRNT1, TRPC3, TSEN15, TSEN2, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTPA, TTR, TUBB2A, TUBB4A, TWNK, TXN2, UBA5, UBE3A, UBTF, UCHL1, UQCRQ, VAMP1, VARS2, VLDLR, VPS13D, VRK1, VWA3B, WDPCP, WDR73, WDR81, WFS1, WWOX, XPA, XRCC1, ZFYVE26, ZNF423, ZNF592
Ataxia autosómica dominante
31 genes
AFG3L2, ATP1A3, CACNA1A, CACNA1G, CACNB4, CAMTA1, CCDC88C, DAB1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, GRM1, ITPR1, KCNA1, KCNC3, KCND3, MME, PDYN, PLD3, PRKCG, PUM1, SLC1A3, SPTBN2, STUB1, TGM6, TMEM240, TRPC3, TTBK2, VAMP1
Ataxia autosómica recesiva
73 genes
ABHD12, AFG3L2, ANO10, APTX, ATCAY, ATG5, ATM, ATP8A2, CA8, CAPN1, CLCN2, COA7, COQ8A, COX20, CP, CWF19L1, CYP27A1, CYP7B1, DARS2, DNAJC19, FXN, GBA2, GDAP2, GJC2, GOSR2, GRID2, GRM1, GRN, HEXA, HEXB, ITPR1, KCNJ10, KIF1C, L2HGDH, MARS2, MRE11, MTPAP, NKX6-2, PEX10, PLA2G6, PMPCA, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRICKLE1, RNF216, SACS, SCYL1, SETX, SIL1, SLC9A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TDP2, TPP1, TTPA, TWNK, UBA5, UCHL1, VLDLR, VPS13D, VWA3B, WDR73, WDR81, WWOX, XRCC1
Ataxia con apraxia oculomotora
6 genes
APTX, COA7, PIK3R5, PNKP, SETX, TDP1
Ataxia con espasticidad
36 genes
AFG3L2, AP5Z1, APTX, ATM, ATP1A3, ATP7B, CHP1, COX20, CTC1, CYP27A1, DLAT, FXN, GBA, GFAP, GLRX5, KIF1C, L2HGDH, MARS2, MTPAP, NKX6-2, NPC1, NPC2, PLA2G6, PNKP, POLG, SACS, SETX, SLC19A3, SLC2A1, SLC30A9, SPG7, SQSTM1, TTPA, TUBB4A, UQCRQ, VAMP1
Ataxia episódica
9 genes
ATP1A3, CACNA1A, CACNB4, FGF14, KCNA1, PRRT2, SCN2A, SLC1A3, SLC2A1
Ataxia espinocerebelosa
88 genes
ABHD12, AFG3L2, ANO10, APTX, ATCAY, ATG5, ATM, BEAN1, CA8, CACNA1A, CACNA1G, CAPN1, CCDC88C, CLCN2, COA7, COQ8A, COX20, CWF19L1, CYP27A1, CYP7B1, DAB1, DARS2, DNAJC19, DNMT1, EEF2, ELOVL4, ELOVL5, FAT2, FGF14, FXN, GBA2, GDAP2, GJC2, GOSR2, GRID2, GRM1, GRN, ITPR1, KCNC3, KCND3, KCNJ10, KIF1C, L2HGDH, MME, MRE11, MTPAP, PDYN, PEX10, PLD3, PMPCA, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRKCG, PUM1, RNF216, RUBCN, SACS, SCYL1, SETX, SIL1, SLC9A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TDP2, TGM6, TMEM240, TPP1, TRPC3, TTBK2, TTPA, TWNK, UBA5, UCHL1, VLDLR, VPS13D, VWA3B, WDR73, WDR81, WWOX, XRCC1
CADASIL y CARASIL
2 genes
HTRA1, NOTCH3
Calcificaciones cerebrales
67 genes
ABCD1, ADAR, AIRE, AP1S2, AP2S1, ARID2, CA2, CASR, COL4A1, COL4A2, COL4A5, COMT, CPLANE1, CSF1R, CTC1, CYP27A1, CYP2U1, DPF2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, FGF23, GALC, GATA3, GCM2, GFAP, GJA1, GLA, GNA11, GNAS, GP1BB, HADHA, HADHB, HIRA, IFIH1, IRX5, MMUT, MYORG, NLRP5, OCLN, PAH, PCDH12, PDGFB, PDGFRB, PRKAR1A, PSAP, PSMB8, PTH, PTH1R, PTPN22, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SLC20A2, SLC46A1, SMARCC2, STX16, TREM2, TREX1, TRPM6, TYROBP, XPR1
Calcificación de los ganglios basales ampliado
41 genes
ADAR, AP1S2, ARID2, CA2, CASR, COL4A1, CSF1R, CTC1, CYP2U1, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FAM111A, GALC, GATA3, GJA1, GNA11, IFIH1, MMUT, MYORG, OCLN, PCDH12, PDGFB, PDGFRB, PSMB8, PTH, PTH1R, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SLC20A2, SLC46A1, TREM2, TREX1, TRPM6, TYROBP, XPR1
Calcificación idiopática de los ganglios basales (enfermedad de Fahr)
6 genes
MYORG, PCDH12, PDGFB, PDGFRB, SLC20A2, XPR1
Canalopatías neurológicas
92 genes
ADCY5, ARHGEF9, ARX, ATN1, ATP1A2, ATP1A3, ATP2A1, ATP7B, BEST1, CACNA1A, CACNA1D, CACNA1F, CACNA1H, CACNA1S, CACNB4, CAV3, CDKL5, CHRNA1, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CLCN1, CLCN2, CNGA1, CNGA3, CNGB1, CNGB3, DMPK, GAA, GABRA1, GABRA6, GABRB2, GABRB3, GABRD, GABRG2, GBE1, GLRA1, GLRB, GRIN2D, HINT1, HSPG2, HTT, KCNA1, KCNA2, KCNC3, KCNE3, KCNJ10, KCNJ18, KCNJ2, KCNJ5, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCNQ4, KCNT1, MCOLN1, NKX2-1, PCDH19, PIGA, PLCB1, PNKD, PNKP, PRRT2, RYR1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SLC12A3, SLC1A3, SLC25A22, SLC2A1, SLC6A5, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, TBC1D24, TRPA1, TRPM1, TRPV4
Cavernomatosis cerebral
4 genes
CCM2, KRIT1, PDCD10, RASA1
Charcot-Marie-Tooth ampliado
144 genes
AARS1, ABHD12, ADCY6, AFG3L2, AGTPBP1, AHNAK2, AIFM1, AMACR, ARHGEF10, ATAD3A, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, C12ORF65, C1ORF194, CCT5, CHCHD10, CLTCL1, CNTNAP1, COA7, COL6A5, COX10, COX6A1, CTDP1, DCAF8, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GLE1, GNB4, GNE, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS1, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14, MYOT, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PIEZO2, PLEKHG5, PMP2, PMP22, PNKP, POLG, PRDM12, PRNP, PRPS1, PRX, PTRH2, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMAD3, SORD, SPAST, SPG11, SPTBN4, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, TUBB3, TYMP, UBA1, VCP, VRK1, VWA1, WARS1, WNK1, YARS1, ZFYVE26
Charcot-Marie-Tooth axonal
76 genes
AARS1, AFG3L2, AIFM1, ATP1A1, ATP7A, BAG3, BSCL2, C1ORF194, CHCHD10, CNTNAP1, COA7, COX6A1, DCAF8, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, FBXO38, GAN, GARS1, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS1, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, JPH1, KARS1, KIF1B, KIF5A, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, NAGLU, NEFH, NEFL, PDK3, PLEKHG5, PRPS1, PRX, RAB7A, SACS, SBF1, SCO2, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC52A2, SLC52A3, SPG11, SPTLC1, SURF1, SYT2, TFG, TRIM2, TRPV4, VCP, WARS1, YARS1
Charcot-Marie-Tooth básico
6 genes
GDAP1, GJB1, MFN2, MPZ, PMP22, SH3TC2
Charcot-Marie-Tooth desmielinizante
42 genes
ABHD12, AIFM1, ARHGEF10, C1ORF194, CNTNAP1, COX6A1, CTDP1, DNM2, DRP2, EGR2, FBLN5, FGD4, FIG4, GDAP1, GJB1, GJB3, GNB4, HARS1, HK1, INF2, KARS1, LITAF, LRSAM1, MCM3AP, MPV17, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, SACS, SBF1, SBF2, SH3TC2, SLC12A6, SURF1, YARS1
Conectivopatías
69 genes
ABCC6, ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BGN, BMP1, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, GORAB, HDAC4, LOX, LTBP4, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PLOD2, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, VPS13B, ZNF469
Corea hereditaria
27 genes
ADCY5, ATM, ATP7B, C19ORF12, CP, DCAF17, FRRS1L, FTL, GM2A, GNAO1, HPRT1, KCNA1, NKX2-1, NUP62, OPA3, PANK2, PDE10A, PDE8B, PDGFRB, PLA2G6, PRNP, RNF216, SLC20A2, SLC2A1, VAC14, VPS13A, XK
Demencia frontotemporal ampliado
22 genes
CCNF, CHCHD10, CHMP2B, CTSF, CYP27A1, DCTN1, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, MATR3, OPTN, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, VCP
Demencia frontotemporal básico
11 genes
CHCHD10, CHMP2B, FUS, GRN, MAPT, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VCP
Discinesias paroxísticas
25 genes
ADCY5, ATP1A2, ATP1A3, CACNA1A, CACNB4, DEPDC5, DLAT, FGF14, GCH1, GLRA1, GLRB, KCNA1, KCNMA1, KCNQ2, KMT2B, MECR, PDHA1, PNKD, PRRT2, SCN1A, SCN8A, SCN9A, SLC1A3, SLC2A1, SLC6A5
Displasia septo-óptica
11 genes
ARNT2, FGFR1, HESX1, LHX3, LHX4, OTX2, POU1F1, PROKR2, PROP1, SOX2, SOX3
Distonía aislada
9 genes
ANO3, CIZ1, COL6A3, GNAL, HPCA, KMT2B, THAP1, TOR1A, TUBB4A
Distonía ampliado
130 genes
ACAT1, ACTB, ADAR, ADCY5, AFG3L2, ALS2, ANO3, APTX, ARSA, ARX, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, BCAP31, C19ORF12, CACNA1A, CACNA1B, CAMK4, CHMP2B, CIZ1, COL6A3, COX10, COX15, COX20, CP, CYP27A1, DCAF17, DDC, DLAT, DNAJC12, DNAJC6, EARS2, ECHS1, FA2H, FBXO7, FOXG1, FOXRED1, FTL, GCDH, GCH1, GLB1, GNAL, GNAO1, GNB1, HEXA, HPCA, HPRT1, KCNMA1, KCNQ2, KCTD17, KIF1C, KMT2B, L2HGDH, LIPT1, MAT1A, MCOLN1, MECP2, MECR, MMADHC, MMUT, MPV17, NDUFA10, NDUFA2, NDUFA9, NDUFS3, NDUFS4, NDUFS8, NKX2-1, NPC1, NPC2, NUP62, PANK2, PCCA, PCCB, PDE10A, PDGFB, PDGFRB, PDHA1, PDHX, PINK1, PLA2G6, PLEKHG2, PLP1, PNKD, PNKP, POLG, POLR3A, POLR3B, PRKN, PRKRA, PRRT2, PSEN1, PTS, QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SCN8A, SCP2, SDHA, SDHAF1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SLC6A8, SPR, SUCLA2, SUOX, SURF1, SYNJ1, TH, THAP1, TIMM8A, TOR1A, TPI1, TPK1, TREX1, TTC19, TUBB4A, UQCRQ, VAC14, VPS13A, WDR45
Distonía combinada
12 genes
ATP1A3, ECHS1, GCH1, KCTD17, PNKD, PRKRA, PRRT2, SGCE, SLC2A1, SLC6A3, SPR, TH
Distrofia muscular de Emery-Dreifuss
9 genes
EMD, FHL1, LMNA, SUN1, SUN2, SYNE1, SYNE2, TMEM43, TTN
Distrofia muscular de cinturas
46 genes
ANO5, BVES, CAPN3, CAV3, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DES, DMD, DNAJB6, DOK7, DPM3, DYSF, FKRP, FKTN, GAA, GMPPB, HNRNPDL, KBTBD13, LAMA2, LIMS2, LMNA, MYOT, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PYROXD1, SGCA, SGCB, SGCD, SGCG, SRPK3, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VCP
Distrofia muscular y miopatías estructurales
160 genes
ACTA1, ACTN2, ADSS1, AGL, AGRN, ALG13, ANO5, ATP2A1, B3GALNT2, B3GNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, CACNA1H, CACNA1S, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHKB, CLN3, CNTN1, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CRPPA, CRYAB, DAG1, DES, DMD, DNA2, DNAJB5, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FAT1, FHL1, FHL2, FKBP14, FKRP, FKTN, FLNC, FXR1, GAA, GBE1, GMPPB, GNE, GOLGA2, GOSR2, HACD1, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, HSPB1, HSPB8, INPP5K, ITGA7, ITGA9, KBTBD13, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, MAP3K20, MATR3, MB, MEGF10, MICU1, MSTN, MTM1, MTMR14, MYH14, MYH2, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOT, MYPN, NEB, ORAI1, PABPN1, PAX7, PHKA1, PLEC, PMM2, PNPLA2, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PTRH2, PYROXD1, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SMCHD1, SPEG, SPTBN4, SQSTM1, SRPK3, STAC3, STIM1, SUN1, SUN2, SYNE1, SYNE2, TCAP, TIA1, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM54, TRIM63, TRIP4, TRPV4, TTN, UBA1, VCP, VMA21, VPS13A, VRK1, XK
Distrofia muscular y miopatías estructurales congénitas
86 genes
ACTA1, ACTN2, ALG13, B3GALNT2, B4GAT1, BIN1, CACNA1H, CACNA1S, CAVIN1, CCDC78, CFL2, CHKB, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, CRYAB, DAG1, DMD, DNM2, DOK7, DOLK, DPM1, DPM2, DPM3, FKRP, FKTN, FXR1, GBE1, GMPPB, GOSR2, HACD1, HRAS, INPP5K, ITGA7, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LARGE1, LMNA, LMOD3, MAP3K20, MEGF10, MICU1, MTM1, MYH2, MYH7, MYL1, MYL2, MYMK, MYO18B, MYPN, NEB, ORAI1, PAX7, PMM2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PTRH2, PYROXD1, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SIL1, SPEG, SPTBN4, SRPK3, STAC3, STIM1, TCAP, TNNT1, TNPO3, TPM2, TPM3, TRAPPC11, TRIP4, TTN
Distrofinopatía
1 genes
DMD
Distroglicanopatías
17 genes
B3GALNT2, B4GAT1, CRPPA, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN, GMPPB, LARGE1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1
Encefalopatías epilépticas
270 genes
AARS1, ABAT, ACADS, ACTL6B, ACY1, ADAM22, ADAR, ADPRS, ADSL, AGO4, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARFGEF2, ARHGEF15, ARHGEF9, ARV1, ARX, ASNS, ATP6V1A, BOLA3, BRAT1, BTBD9, CACNA1A, CACNA1B, CACNA1E, CACNA1H, CACNA1I, CACNA2D2, CAD, CARS2, CASK, CDH13, CDH2, CDKL5, CHD2, CHD4, CHRNA2, CHRNA4, CHRNA5, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLTC, CNKSR2, CNPY3, CNTN5, CNTNAP2, COA8, COQ4, COX6B1, CPLX1, CPT2, CSTB, CUX2, CYFIP2, D2HGDH, DCX, DENND5A, DEPDC5, DNAJC6, DNM1, DNM1L, DOCK7, DOK5, ECHS1, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, ETHE1, FAR1, FARS2, FASN, FGF12, FLNA, FOLR1, FOXG1, FOXP2, FRRS1L, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GCSH, GLDC, GLS, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRIN2D, GTPBP3, GUF1, HCN1, HECW2, HEPACAM, HERC2, HIBCH, HNRNPH1, HNRNPU, HTT, IER3IP1, IQSEC1, IQSEC2, ITPA, KCNA2, KCNB1, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KIF1A, LAMA2, LGI1, LRPPRC, LYRM7, MAGI2, MAPK10, MBD5, MDGA2, MDH2, MECP2, MED17, MEF2C, MLC1, MOCS1, MRPL44, MTFMT, MTHFR, MTOR, NACC1, NDUFAF6, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEUROD2, NHLRC1, NR2F1, NRXN1, NTNG1, NTRK2, NUBPL, PACS2, PARS2, PCDH19, PHACTR1, PIGA, PIGB, PIGO, PIGP, PIGQ, PIGS, PIK3AP1, PLAA, PLCB1, PLP1, PLPBP, PNKP, PNPO, POLG, PPP3CA, PPT1, PRRT2, PTEN, PTPN23, PURA, QARS1, RANGAP1, RELN, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNF13, ROGDI, RYR3, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SDHAF1, SERAC1, SERPINI1, SHANK3, SHROOM4, SIK1, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A1, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC39A13, SLC6A1, SLC6A8, SLC9A6, SMC1A, SNAP25, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STX1B, STXBP1, SYN1, SYNGAP1, SYNJ1, SYT2, SZT2, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TCF4, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TTC19, TWNK, UBA5, UBE3A, UNC80, VARS1, WAC, WARS2, WDR45, WWOX, YWHAG, ZBTB18, ZEB2
Enfermedad de Alzheimer
5 genes
APOE, APP, PSEN1, PSEN2, TREM2
Enfermedad de Alzheimer y otras demencias ampliado
51 genes
ABCA7, APOE, APP, ARSA, ATP13A2, ATP7B, CCNF, CHCHD10, CHMP2B, CSF1R, CTSF, CYP27A1, DCTN1, DNAJC5, DNMT1, FUS, GBA, GRN, HNRNPA1, HNRNPA2B1, HTRA1, ITM2B, LRRK2, MAPT, MATR3, NOTCH3, NPC1, NPC2, OPTN, PINK1, PLA2G6, PRKAR1B, PRNP, PSEN1, PSEN2, RNF216, SERPINI1, SNCA, SNCB, SORL1, SPG21, SQSTM1, TARDBP, TBK1, TIMM8A, TREM2, TREX1, TUBA4A, TYROBP, UBQLN2, VCP
Enfermedad de Moyamoya
8 genes
ACTA2, ADA2, ATR, CENPJ, CEP152, CEP63, GUCY1A1, RNF213
Enfermedad de Nasu-Hakola
2 genes
TREM2, TYROBP
Enfermedad de Parkinson
8 genes
GBA, LRRK2, PARK7, PINK1, PRKN, SNCA, VPS13C, VPS35
Enfermedad de Parkinson y trastornos relacionados
32 genes
ATP13A2, ATP1A3, ATP6AP2, CHCHD2, CSF1R, DCTN1, DNAJC12, DNAJC6, FBXO7, FTL, GBA, GCH1, LRRK2, LYST, MAPT, NUS1, OPA1, PARK7, PINK1, PLA2G6, POLG, PRKN, PTRHD1, RAB39B, SLC6A3, SNCA, SNCB, SPG11, SYNJ1, TWNK, VPS13C, VPS35
Enfermedad de Pelizaeus-Merzbacher
5 genes
AIMP1, GJC2, HSPD1, PLP1, SLC16A2
Enfermedades cerebrovasculares ampliado
40 genes
ACTA2, ADA2, APP, ATP1A2, ATP1A3, ATR, CACNA1A, CBS, CCM2, CENPJ, CEP152, CEP63, COL3A1, COL4A1, COL4A2, COLGALT1, CST3, CTC1, CTSA, ENG, FLVCR2, FOXC1, GLA, GNAQ, GSN, GUCY1A1, HTRA1, ITM2B, KRIT1, MTHFR, NOTCH3, PCNT, PDCD10, RASA1, RNF213, SAMHD1, SCN1A, SLC2A10, SMAD4, TREX1
Enfermedades musculares
389 genes
AARS2, ABCC9, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, ACTN2, ADCY6, ADGRG6, ADSS1, AGK, AGL, AGRN, AIFM1, ALDOA, ALG13, ALG14, ALG2, ALG3, AMPD1, ANO5, ANTXR2, ARX, ASCC1, ATAD1, ATP1A2, ATP2A1, ATP7A, B3GALNT2, B3GNT2, B4GAT1, BAG3, BCS1L, BICD2, BIN1, BVES, C12ORF65, C1QBP, CACNA1E, CACNA1H, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CDK5, CFL2, CHAT, CHCHD10, CHKB, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CLCN1, CLN3, CNTN1, CNTNAP1, COG8, COL12A1, COL13A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT1A, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DHCR24, DMD, DNA2, DNAJB4, DNAJB5, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EARS2, ECEL1, ECHS1, EGR2, EMD, ENO3, ERBB3, ERCC1, ERCC5, ERCC6, ERGIC1, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, FAM111B, FARS2, FASTKD2, FAT1, FBN1, FBN2, FBXL4, FDX2, FHL1, FHL2, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNC, FLVCR2, FOXRED1, FXR1, G6PC, GAA, GATM, GBA, GBE1, GFER, GFM1, GFPT1, GLDN, GLE1, GLRA1, GMPPB, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HINT1, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, HSPB1, HSPB8, HSPG2, IARS2, IGHMBP2, INPP5K, ISCU, ISLR2, ITGA7, ITGA9, KAT6B, KBTBD13, KCNA1, KCNE3, KCNJ18, KCNJ2, KCNJ5, KIAA1109, KIF14, KIF5C, KLHL24, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LGI4, LIMS2, LIPT1, LMNA, LMOD3, LPIN1, LRP4, LRPPRC, MAGEL2, MAP3K20, MATR3, MB, MEGF10, MET, MGME1, MICU1, MMD2, MPZ, MSTN, MSTO1, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NALCN, NDUFA9, NDUFAF6, NDUFS4, NEB, NEK9, NMNAT2, NUP88, OPA1, ORAI1, PABPN1, PAX7, PDHA1, PDHB, PDHX, PET100, PFKM, PGAM1, PGAM2, PGK1, PGM1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PI4KA, PIEZO2, PIP5K1C, PLEC, PLOD2, PMM2, PNPLA2, PNPLA8, PNPT1, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP3CA, PREPL, PRKAG2, PSAT1, PTRH2, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RIPK4, RNASEH1, RPH3A, RRM2B, RXYLT1, RYR1, RYR3, SCARF2, SCN4A, SCO1, SCO2, SDHA, SDHAF1, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SKI, SLC12A3, SLC16A1, SLC16A2, SLC18A3, SLC19A3, SLC22A5, SLC25A1, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SLC35A3, SLC39A13, SLC52A2, SLC52A3, SLC5A7, SLC6A8, SLC6A9, SMCHD1, SNAP25, SOX10, SPEG, SPTBN4, SQSTM1, SRPK3, STAC3, STIM1, SUCLA2, SUCLG1, SUN1, SUN2, SURF1, SYNE1, SYNE2, SYT2, TACO1, TANGO2, TAZ, TCAP, TGFB3, TIA1, TK2, TMEM126B, TMEM43, TMEM65, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM54, TRIM63, TRIP4, TRPV4, TSEN54, TSFM, TTC19, TTN, TUBB2A, TUBB2B, TWNK, TYMP, UBA1, UNC13B, UNC50, VAMP1, VCP, VIPAS39, VMA21, VPS13A, VPS33B, VRK1, XK, YARS2, ZBTB42, ZC4H2, ZMPSTE24
Enfermedades neuromusculares
550 genes
AAAS, AARS1, AARS2, ABCC9, ABCD1, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACO2, ACTA1, ACTN2, ADCY6, ADGRG6, ADSS1, AFG3L2, AGK, AGL, AGRN, AGTPBP1, AHNAK2, AIFM1, ALDOA, ALG13, ALG14, ALG2, ALG3, AMACR, AMPD1, ANO5, ANTXR2, APTX, ARHGEF10, ARL6IP1, ARX, ASAH1, ASCC1, ATAD1, ATAD3A, ATL1, ATL3, ATP1A1, ATP1A2, ATP2A1, ATP7A, B3GALNT2, B3GNT2, B4GAT1, BAG3, BCS1L, BICD2, BIN1, BSCL2, BVES, C12ORF65, C1ORF194, C1QBP, CACNA1E, CACNA1H, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CCT5, CDK5, CFL2, CHAT, CHCHD10, CHKB, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CLCN1, CLN3, CLTCL1, CNTN1, CNTNAP1, COA7, COG8, COL12A1, COL13A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL6A5, COLQ, COQ2, COQ8A, COQ9, COX10, COX15, COX6A1, COX6A2, CPT1A, CPT2, CRPPA, CRYAB, CTDP1, CYP27A1, DAG1, DCAF8, DCTN1, DCTN2, DDX20, DES, DGAT2, DGUOK, DHCR24, DHTKD1, DMD, DNA2, DNAJB2, DNAJB4, DNAJB5, DNAJB6, DNM1L, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DRP2, DST, DYNC1H1, DYSF, EARS2, ECEL1, ECHS1, EGR2, ELP1, EMD, EMILIN1, ENO3, ERBB3, ERCC1, ERCC5, ERCC6, ERGIC1, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, FAM111B, FARS2, FASTKD2, FAT1, FBLN5, FBN1, FBN2, FBXL4, FBXO38, FDX2, FDXR, FGD4, FHL1, FHL2, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNC, FLRT1, FLVCR1, FLVCR2, FOXRED1, FXN, FXR1, G6PC, GAA, GAN, GARS1, GATM, GBA, GBE1, GDAP1, GEMIN2, GFER, GFM1, GFPT1, GJB1, GJB3, GLA, GLDN, GLE1, GLRA1, GM2A, GMPPB, GNB4, GNE, GOLGA2, GOSR2, GSN, GTF2H2, GYG1, GYS1, HACD1, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HNRNPA1, HNRNPA2B1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HSPG2, IARS2, IGHMBP2, INF2, INPP5K, ISCU, ISLR2, ITGA7, ITGA9, JPH1, KARS1, KAT6B, KBTBD13, KCNA1, KCNE3, KCNJ18, KCNJ2, KCNJ5, KIAA1109, KIF14, KIF1A, KIF1B, KIF5A, KIF5C, KLHL24, KLHL40, KLHL41, KLHL9, KY, L1CAM, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LAS1L, LDB3, LDHA, LGI4, LIMS2, LIPT1, LITAF, LMNA, LMOD3, LPIN1, LRP4, LRPPRC, LRSAM1, MAGEL2, MAP3K20, MARS1, MATR3, MB, MCM3AP, MED25, MEGF10, MET, MFN2, MGME1, MICU1, MMD2, MME, MORC2, MPV17, MPZ, MSTN, MSTO1, MTM1, MTMR14, MTMR2, MTO1, MTTP, MUSK, MYBPC1, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NAGLU, NAIP, NALCN, NDRG1, NDUFA9, NDUFAF6, NDUFS4, NEB, NEFH, NEFL, NEK9, NGF, NMNAT2, NTRK1, NUP88, OPA1, OPA3, ORAI1, PABPN1, PAX7, PDHA1, PDHB, PDHX, PDK3, PDXK, PET100, PEX7, PFKM, PGAM1, PGAM2, PGK1, PGM1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PI4KA, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD2, PLP1, PLS3, PMM2, PMP2, PMP22, PNKP, PNPLA2, PNPLA8, PNPT1, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP3CA, PRDM12, PREPL, PRKAG2, PRNP, PRPS1, PRX, PSAT1, PTRH2, PUS1, PYGM, PYROXD1, RAB7A, RAPSN, RAX2, RBCK1, RBM7, REEP1, RETREG1, RIPK4, RNASEH1, RPH3A, RRM2B, RTN4IP1, RXYLT1, RYR1, RYR3, SACS, SBF1, SBF2, SCARF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDHA, SDHAF1, SELENON, SEPTIN9, SERF1A, SETX, SGCA, SGCB, SGCD, SGCG, SGPL1, SH3TC2, SIGMAR1, SIL1, SKI, SLC12A3, SLC12A6, SLC16A1, SLC16A2, SLC18A3, SLC19A3, SLC22A5, SLC25A1, SLC25A20, SLC25A21, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SLC25A46, SLC35A3, SLC39A13, SLC52A2, SLC52A3, SLC5A2, SLC5A7, SLC6A8, SLC6A9, SLC9A3R1, SMAD3, SMCHD1, SMN1, SMN2, SNAP25, SORD, SOX10, SPAST, SPEG, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRPK3, STAC3, STIM1, SUCLA2, SUCLG1, SUN1, SUN2, SURF1, SYNE1, SYNE2, SYT2, TACO1, TANGO2, TAZ, TBCE, TCAP, TECPR2, TFG, TGFB3, TIA1, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM43, TMEM65, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TRA2B, TRAPPC11, TRIM2, TRIM32, TRIM54, TRIM63, TRIP4, TRPA1, TRPV4, TSEN54, TSFM, TTC19, TTN, TTR, TUBB2A, TUBB2B, TUBB3, TWNK, TYMP, UBA1, UBA5, UNC13B, UNC50, VAMP1, VAPB, VCP, VIPAS39, VMA21, VPS13A, VPS33B, VRK1, VWA1, WARS1, WFS1, WNK1, XK, YARS1, YARS2, ZBTB42, ZC4H2, ZFHX2, ZFYVE26, ZMPSTE24, ZPR1
Enfermedades neuromusculares y del tejido conectivo
603 genes
AAAS, AARS1, AARS2, ABCC6, ABCC9, ABCD1, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACO2, ACTA1, ACTA2, ACTN2, ADAMTS2, ADCY6, ADGRG6, ADSS1, AFG3L2, AGK, AGL, AGRN, AGTPBP1, AHNAK2, AIFM1, ALDH18A1, ALDOA, ALG13, ALG14, ALG2, ALG3, AMACR, AMPD1, ANO5, ANTXR2, APTX, ARHGEF10, ARL6IP1, ARX, ASAH1, ASCC1, ATAD1, ATAD3A, ATL1, ATL3, ATP1A1, ATP1A2, ATP2A1, ATP6V0A2, ATP7A, B3GALNT2, B3GALT6, B3GNT2, B4GALT7, B4GAT1, BAG3, BCS1L, BGN, BICD2, BIN1, BMP1, BSCL2, BVES, C12ORF65, C1ORF194, C1QBP, C1R, C1S, CACNA1E, CACNA1H, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CBS, CCDC78, CCT5, CDK5, CFL2, CHAT, CHCHD10, CHKB, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CLCN1, CLN3, CLTCL1, CNTN1, CNTNAP1, COA7, COG8, COL11A1, COL11A2, COL12A1, COL13A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, COL6A3, COL6A5, COL9A1, COL9A2, COL9A3, COLQ, COQ2, COQ8A, COQ9, COX10, COX15, COX6A1, COX6A2, CPT1A, CPT2, CRPPA, CRTAP, CRYAB, CTDP1, CYP27A1, DAG1, DCAF8, DCTN1, DCTN2, DDX20, DES, DGAT2, DGUOK, DHCR24, DHTKD1, DMD, DNA2, DNAJB2, DNAJB4, DNAJB5, DNAJB6, DNM1L, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DRP2, DSE, DST, DYNC1H1, DYSF, EARS2, ECEL1, ECHS1, EFEMP2, EGR2, ELN, ELP1, EMD, EMILIN1, ENO3, ERBB3, ERCC1, ERCC5, ERCC6, ERGIC1, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, FAM111B, FARS2, FASTKD2, FAT1, FBLN5, FBN1, FBN2, FBXL4, FBXO38, FDX2, FDXR, FGD4, FHL1, FHL2, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNC, FLRT1, FLVCR1, FLVCR2, FOXE3, FOXRED1, FXN, FXR1, G6PC, GAA, GAN, GARS1, GATM, GBA, GBE1, GDAP1, GEMIN2, GFER, GFM1, GFPT1, GJB1, GJB3, GLA, GLDN, GLE1, GLRA1, GM2A, GMPPB, GNB4, GNE, GOLGA2, GORAB, GOSR2, GSN, GTF2H2, GYG1, GYS1, HACD1, HADHA, HADHB, HARS1, HDAC4, HEXA, HEXB, HINT1, HK1, HNRNPA1, HNRNPA2B1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HSPG2, IARS2, IGHMBP2, INF2, INPP5K, ISCU, ISLR2, ITGA7, ITGA9, JPH1, KARS1, KAT6B, KBTBD13, KCNA1, KCNE3, KCNJ18, KCNJ2, KCNJ5, KIAA1109, KIF14, KIF1A, KIF1B, KIF5A, KIF5C, KLHL24, KLHL40, KLHL41, KLHL9, KY, L1CAM, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LAS1L, LDB3, LDHA, LGI4, LIMS2, LIPT1, LITAF, LMNA, LMOD3, LOX, LPIN1, LRP4, LRPPRC, LRSAM1, LTBP4, MAGEL2, MAP3K20, MARS1, MATR3, MB, MCM3AP, MED12, MED25, MEGF10, MET, MFAP5, MFN2, MGME1, MICU1, MMD2, MME, MORC2, MPV17, MPZ, MSTN, MSTO1, MTM1, MTMR14, MTMR2, MTO1, MTTP, MUSK, MYBPC1, MYH11, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYLK, MYMK, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NAGLU, NAIP, NALCN, NDRG1, NDUFA9, NDUFAF6, NDUFS4, NEB, NEFH, NEFL, NEK9, NGF, NMNAT2, NOTCH1, NTRK1, NUP88, OPA1, OPA3, ORAI1, PABPN1, PAX7, PDHA1, PDHB, PDHX, PDK3, PDXK, PET100, PEX7, PFKM, PGAM1, PGAM2, PGK1, PGM1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PI4KA, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD1, PLOD2, PLOD3, PLP1, PLS3, PMM2, PMP2, PMP22, PNKP, PNPLA2, PNPLA8, PNPT1, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP3CA, PRDM12, PRDM5, PREPL, PRKAG2, PRKG1, PRNP, PRPS1, PRX, PSAT1, PTRH2, PUS1, PYCR1, PYGM, PYROXD1, RAB7A, RAPSN, RAX2, RBCK1, RBM7, REEP1, RETREG1, RIN2, RIPK4, RNASEH1, RPH3A, RRM2B, RTN4IP1, RXYLT1, RYR1, RYR3, SACS, SBF1, SBF2, SCARF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDHA, SDHAF1, SELENON, SEPTIN9, SERF1A, SETX, SGCA, SGCB, SGCD, SGCG, SGPL1, SH3TC2, SIGMAR1, SIL1, SKI, SLC12A3, SLC12A6, SLC16A1, SLC16A2, SLC18A3, SLC19A3, SLC22A5, SLC25A1, SLC25A20, SLC25A21, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SLC25A46, SLC2A10, SLC35A3, SLC39A13, SLC52A2, SLC52A3, SLC5A2, SLC5A7, SLC6A8, SLC6A9, SLC9A3R1, SMAD3, SMAD4, SMCHD1, SMN1, SMN2, SNAP25, SORD, SOX10, SPAST, SPEG, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRPK3, STAC3, STIM1, SUCLA2, SUCLG1, SUN1, SUN2, SURF1, SYNE1, SYNE2, SYT2, TACO1, TANGO2, TAZ, TBCE, TCAP, TECPR2, TFG, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM43, TMEM65, TNNI2, TNNT1, TNNT3, TNPO3, TNXB, TOR1A, TOR1AIP1, TPM2, TPM3, TRA2B, TRAPPC11, TRIM2, TRIM32, TRIM54, TRIM63, TRIP4, TRPA1, TRPV4, TSEN54, TSFM, TTC19, TTN, TTR, TUBB2A, TUBB2B, TUBB3, TWNK, TYMP, UBA1, UBA5, UNC13B, UNC50, VAMP1, VAPB, VCP, VIPAS39, VMA21, VPS13A, VPS13B, VPS33B, VRK1, VWA1, WARS1, WFS1, WNK1, XK, YARS1, YARS2, ZBTB42, ZC4H2, ZFHX2, ZFYVE26, ZMPSTE24, ZNF469, ZPR1
Epilepsia ampliado
821 genes
AARS1, ABAT, ABCA2, ABCB1, ABCC8, ABCD1, ACADM, ACADS, ACADSB, ACO2, ACOX1, ACTB, ACTG1, ACTL6B, ACY1, ADAM22, ADAR, ADGRG1, ADGRV1, ADK, ADPRS, ADRA2B, ADSL, AFG3L2, AGA, AGO4, AHI1, AIFM1, AIMP1, AKT2, AKT3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMACR, AMT, ANK3, ANKRD11, AP2M1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APP, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARID1B, ARL13B, ARSA, ARSB, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL3, ATAD1, ATIC, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP5F1A, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATPAF2, ATR, ATRX, AUH, B4GALT1, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA3, BRAF, BRAT1, BRD2, BSCL2, BTBD9, BTD, BUB1B, C12ORF57, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1H, CACNA1I, CACNA2D1, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CARS2, CASK, CASQ2, CASR, CAV1, CBL, CBS, CC2D1A, CC2D2A, CCDC88A, CCDC88C, CCL2, CCM2, CDH13, CDH2, CDK9, CDKL5, CDON, CENPJ, CEP152, CEP290, CERS1, CERT1, CHD2, CHD4, CHRNA2, CHRNA4, CHRNA5, CHRNA7, CHRNB2, CILK1, CLCN2, CLCN4, CLIC2, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTN5, CNTNAP2, COA7, COA8, COG4, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX8A, CPA6, CPLX1, CPS1, CPT1A, CPT2, CREBBP, CRH, CSF1R, CSNK1G1, CSNK2B, CSTB, CTC1, CTNNB1, CTSA, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27A1, CYP2C9, D2HGDH, DARS1, DARS2, DBH, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DIAPH1, DLD, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK7, DOK5, DOLK, DPAGT1, DPM1, DPM2, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, ECHS1, ECM1, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, ELP4, EMX2, ENG, EPM2A, EPRS1, ERMARD, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, FA2H, FADD, FAM126A, FAR1, FARS2, FASN, FASTKD2, FBXL4, FDFT1, FDX2, FGD1, FGF12, FGFR3, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXP2, FOXRED1, FRRS1L, FUCA1, FUT8, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GALC, GAMT, GATM, GBA, GCDH, GCH1, GCK, GCSH, GFAP, GFM1, GFM2, GJA1, GJC2, GLA, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLS, GLUD1, GLUL, GM2A, GMPPB, GNAO1, GNAQ, GNB1, GNE, GNS, GOLGA2, GOSR2, GOT2, GPAA1, GPC3, GPHN, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GSS, GTPBP3, GUF1, HACE1, HADH, HAX1, HCCS, HCN1, HCN2, HCN4, HDAC4, HECW2, HEPACAM, HERC2, HEXA, HEXB, HGSNAT, HIBCH, HLCS, HMBS, HNRNPH1, HNRNPU, HPD, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA1, HTT, IBA57, IDH2, IDS, IER3IP1, INS, IQSEC1, IQSEC2, IRF2BPL, ITPA, JMJD1C, JRK, KANSL1, KCNA1, KCNA2, KCNAB1, KCNAB2, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD3, KCTD7, KDM5C, KDM6A, KIF1A, KIF2A, KIF4A, KIF5C, KIF7, KIFBP, KMT2D, KMT2E, KPNA7, KRAS, KRIT1, L1CAM, L2HGDH, LAMA2, LAMB1, LAMC3, LARGE1, LBR, LGI1, LIAS, LMNB1, LMNB2, LNPK, LRPPRC, LYRM7, MACF1, MAGI2, MAN1B1, MANBA, MAP2K1, MAP2K2, MAPK10, MAPT, MARS2, MBD5, MBOAT7, MBTPS2, MCCC1, MCOLN1, MCPH1, MDGA2, MDH2, ME2, MECP2, MED12, MED17, MEF2C, MFF, MFSD8, MGAT2, MIPEP, MLC1, MLYCD, MMACHC, MMADHC, MOCS1, MOCS2, MOCS3, MOGS, MPDU1, MPDZ, MRPL44, MRPS22, MSX2, MTFMT, MTHFR, MTOR, MTR, MTRR, NAA10, NACC1, NAGA, NAGLU, NALCN, NBEA, NDE1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NF1, NFU1, NGLY1, NHLRC1, NIPBL, NKX6-2, NOL3, NOTCH3, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR2F1, NRAS, NRXN1, NSD1, NSDHL, NT5C2, NTNG1, NTRK2, NUBPL, NUS1, OCLN, OCRL, OFD1, OPHN1, OTC, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK3, PANK2, PARS2, PAX6, PC, PCBD1, PCDH12, PCDH19, PCNT, PDCD10, PDHA1, PDHX, PDP1, PDSS2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHACTR1, PHF6, PHGDH, PIGA, PIGB, PIGC, PIGG, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGV, PIGW, PIK3AP1, PIK3CA, PIK3R2, PITRM1, PLA2G6, PLAA, PLCB1, PLP1, PLPBP, PMM2, PNKD, PNKP, PNPO, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPP2CA, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRODH, PRRT2, PSAP, PSAT1, PSEN1, PSPH, PTCH1, PTEN, PTPN11, PTPN23, PTS, PUM1, PURA, PYCR2, QARS1, QDPR, RAB18, RAB39B, RAB3GAP1, RAI1, RALA, RANBP2, RANGAP1, RARS1, RARS2, RBFOX1, RBFOX3, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF13, RNF216, ROGDI, RORB, RPGRIP1L, RRM2B, RTTN, RUBCN, RYR2, RYR3, SAMD12, SAMHD1, SATB2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD2, SGCE, SGSH, SHANK3, SHH, SHOC2, SHROOM4, SIK1, SIX3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A42, SLC2A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A13, SLC39A8, SLC46A1, SLC4A10, SLC6A1, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SMARCA2, SMARCB1, SMC1A, SMC3, SMS, SNAP25, SNAP29, SNIP1, SNX27, SOX10, SPATA5, SPR, SPRED1, SPTAN1, SPTBN4, SRGAP2, SRPX2, ST3GAL3, ST3GAL5, STAMBP, STIL, STRADA, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SYT2, SZT2, TACO1, TAF1, TANGO2, TBC1D20, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBX1, TCF4, TIMMDC1, TK2, TLR4, TMEM126B, TMEM165, TMEM216, TMEM67, TMEM70, TNK2, TPK1, TPP1, TRAK1, TRAPPC9, TREM2, TREX1, TRIM8, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TTC19, TTR, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TWNK, TYROBP, UBA5, UBE2A, UBE3A, UNC80, VAMP2, VARS1, VPS13A, VPS13B, VPS53, WAC, WARS2, WASF1, WDR26, WDR45, WDR62, WFS1, WWOX, YWHAG, YY1, ZBTB18, ZDHHC9, ZEB2, ZFYVE26, ZIC2
Epilepsia de la adolescencia y la edad adulta
86 genes
ADRA2B, AGA, AMACR, ARFGEF2, ARG1, ARL13B, ARSA, ARSB, ASAH1, ASPM, ATP1A2, ATP2A2, ATP6V0A2, ATRX, BRAF, BTD, C12ORF57, CACNA1A, CACNA1H, CACNB4, CASK, CASR, CC2D2A, CENPJ, CEP290, CHRNA2, CHRNA4, CHRNB2, CILK1, CLCN2, CLCN4, CNTN2, COL4A1, CPA6, CRH, CTSA, CTSF, CUL4B, DEPDC5, DNAJC5, EFHC1, EPM2A, FLNA, GABRA1, GABRD, GABRG2, GFAP, GLB1, GLI3, GNS, GRIA3, GRN, HEXA, HGSNAT, IQSEC2, KCNA1, KCNC1, KCNQ3, L2HGDH, LGI1, NAGLU, NEU1, NF1, NHLRC1, NOTCH3, NPC1, NPC2, OFD1, PANK2, PDHA1, PEX7, PPT1, PURA, RAI1, RBFOX1, RBFOX3, RELN, SCARB2, SCN5A, SERPINI1, SLC19A3, SLC25A15, SLC6A8, SMARCA2, TBC1D24, VPS13A
Epilepsia focal y generalizada idiopática
40 genes
ALDH7A1, AMACR, CACNA1A, CHRNA2, CHRNA4, CHRNB2, CLCN2, DEPDC5, EFHC1, GABRA1, GABRB3, GABRG2, GRIN2A, HCN1, KCNA1, KCNC1, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, MTOR, NPRL2, NPRL3, PCDH19, POLG, PRRT2, RELN, RORB, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SLC1A3, SLC2A1, SLC6A1, STX1B, TBC1D24
Epilepsia infantil
327 genes
AARS1, ABAT, ACY1, ADGRV1, ADSL, AKT3, ALDH5A1, ALDH7A1, ALG13, AMACR, AMT, ARG1, ARHGEF9, ARL13B, ARSA, ARSB, ARX, ASAH1, ASNS, ASPM, ATIC, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, ATRX, AUH, B4GALT1, BCKDK, BCS1L, BOLA3, BRAF, BSCL2, BTBD9, BTD, C12ORF57, CACNA1A, CACNA1H, CACNA1I, CACNB4, CASK, CASR, CAV1, CC2D2A, CDKL5, CENPJ, CEP290, CHD2, CHD4, CHRNA2, CHRNA4, CHRNA5, CHRNA7, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COG7, COG8, COL4A1, COQ2, COQ8A, COQ9, COX10, CPA6, CPT1A, CPT2, CRH, CSTB, CTNNB1, CTSA, CTSD, CUL4B, D2HGDH, DCX, DDX3X, DEPDC5, DHFR, DLD, DNAJC5, DNM1, DOLK, DPAGT1, DPM1, DPYD, DPYS, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ETHE1, FARS2, FASTKD2, FH, FKTN, FLNA, FOLR1, FOXG1, FOXP2, FOXRED1, GABBR2, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GALC, GAMT, GATM, GCDH, GCK, GCSH, GFAP, GLB1, GLDC, GLI3, GLUD1, GLUL, GNAO1, GNE, GNS, GOSR2, GRIA3, GRIN1, GRIN2A, GRIN2B, GUF1, HCN1, HECW2, HERC2, HEXA, HEXB, HGSNAT, HSD17B10, IDS, IER3IP1, IQSEC2, IRF2BPL, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KDM6A, KMT2D, L2HGDH, LAMA2, LAMB1, LGI1, LIAS, LRPPRC, MAGI2, MAP2K1, MAPK10, MBD5, MCPH1, MECP2, MED17, MEF2C, MFSD8, MGAT2, MLC1, MOCS1, MOCS2, MPDZ, MTHFR, MTOR, NAGLU, NALCN, NDE1, NDUFA1, NDUFA2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEU1, NEXMIF, NF1, NGLY1, NHLRC1, NIPBL, NPC1, NPC2, NPRL3, NRXN1, NSD1, NTNG1, NUBPL, OFD1, OPHN1, PACS1, PAFAH1B1, PANK2, PCDH19, PDHA1, PDSS2, PHF6, PHGDH, PIGA, PIGN, PIGO, PIGV, PIK3R2, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, POLG2, PPP2R5D, PPP3CA, PPT1, PRICKLE1, PRICKLE2, PRODH, PRRT2, PSAP, PURA, QDPR, RAB39B, RAI1, RARS2, RBFOX1, RBFOX3, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SATB2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SDHA, SERPINI1, SETBP1, SHANK3, SHROOM4, SLC17A5, SLC19A3, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC39A13, SLC46A1, SLC4A10, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMC3, SMS, SPATA5, SPR, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STIL, STX1B, STXBP1, SUCLA2, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TBX1, TCF4, TPP1, TRAPPC9, TREX1, TSC1, TSC2, TSEN54, TUBA1A, TUBB2B, TWNK, UBE2A, UBE3A, UNC80, VPS13A, WAC, WDR45, WDR62, WWOX, ZBTB18, ZEB2
Epilepsia mioclónica ampliado
50 genes
ADRA2B, AFG3L2, ASAH1, ATP13A2, BRAT1, CACNB4, CERS1, CILK1, CLCN2, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DHDDS, DNAJC5, EFHC1, EPM2A, FARS2, FOLR1, GABRA1, GABRB2, GABRD, GBA, GOSR2, GRN, IRF2BPL, KCNC1, KCNQ3, KCTD7, LMNB2, MFSD8, NEU1, NHLRC1, PDHA1, POLG, PPT1, PRDM8, PRICKLE1, SAMD12, SCARB2, SERPINI1, SLC6A1, SNX27, SURF1, TBC1D24, TPK1, TPP1
Epilepsia mioclónica juvenil
8 genes
CACNB4, CILK1, CLCN2, EFHC1, GABRA1, GABRD, KCNQ3, TBC1D24
Epilepsia mioclónica progresiva
43 genes
ADRA2B, AFG3L2, ASAH1, ATP13A2, BRAT1, CERS1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DHDDS, DNAJC5, EPM2A, FARS2, FOLR1, GABRB2, GBA, GOSR2, GRN, IRF2BPL, KCNC1, KCTD7, LMNB2, MFSD8, NEU1, NHLRC1, PDHA1, POLG, PPT1, PRDM8, PRICKLE1, SAMD12, SCARB2, SERPINI1, SLC6A1, SNX27, SURF1, TBC1D24, TPK1, TPP1
Epilepsia neonatal y del lactante
337 genes
AARS1, ABAT, ABCC8, ACTL6B, ACY1, ADAM22, ADAR, ADGRV1, ADSL, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, AP3B2, ARG1, ARHGEF9, ARL13B, ARSA, ARSB, ARV1, ARX, ASAH1, ASNS, ASPA, ATIC, ATP1A2, ATP1A3, ATP6AP2, ATRX, AUH, B4GALT1, BCKDK, BCS1L, BOLA3, BRAF, BRAT1, BTD, BUB1B, C12ORF57, CACNA1A, CACNA1E, CACNA1H, CAD, CASK, CASR, CC2D2A, CCDC88C, CDKL5, CENPJ, CEP290, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNPY3, CNTNAP2, COG7, COG8, COL4A1, COQ2, COQ8A, COQ9, COX10, COX15, CPA6, CPLX1, CPT2, CTSD, CUX2, CYFIP2, DCX, DDX3X, DENND5A, DEPDC5, DHCR7, DHFR, DLD, DNM1, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DYRK1A, EEF1A2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, FARS2, FGF12, FGFR3, FH, FOLR1, FOXG1, FRRS1L, FUCA1, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GALC, GAMT, GATM, GCDH, GCSH, GFAP, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLS, GLUD1, GNAO1, GOSR2, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, HECW2, HEXA, HEXB, HNRNPU, HRAS, HSD17B10, IDS, IQSEC2, IRF2BPL, ITPA, KANSL1, KCNA1, KCNA2, KCNB1, KCNH1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD7, KDM6A, KMT2D, L2HGDH, LAMA2, LIAS, LRPPRC, MAGI2, MAP2K1, MBD5, MDH2, MECP2, MED12, MED17, MEF2C, MFSD8, MGAT2, MLC1, MOCS1, MOCS2, MOGS, MPDU1, MTOR, NALCN, NDE1, NDUFA1, NDUFA2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NF1, NGLY1, NPC1, NPC2, NPRL3, NR2F1, NRXN1, NSD1, NTRK2, OFD1, OPHN1, PACS1, PACS2, PAFAH1B1, PARS2, PC, PCDH19, PDHA1, PDSS2, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PHACTR1, PHF6, PIGA, PIGN, PIGO, PIGP, PIGV, PLA2G6, PLCB1, PLP1, PLPBP, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPP2R5D, PPP3CA, PPT1, PRICKLE1, PRODH, PRRT2, PSAP, PURA, QARS1, QDPR, RARS2, RFT1, RHOBTB2, RNASEH2A, RNASEH2B, RNASEH2C, RNF13, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO2, SDHA, SETBP1, SHH, SIK1, SLC12A5, SLC13A5, SLC17A5, SLC19A3, SLC1A2, SLC25A12, SLC25A15, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMS, SNAP25, SPATA5, SPTAN1, ST3GAL3, ST3GAL5, STX1B, STXBP1, SUMF1, SUOX, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBL1XR1, TBX1, TCF4, TMEM70, TPP1, TRAK1, TREX1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2A, TUBB2B, TWNK, UBA5, UBE2A, UBE3A, UNC80, WDR45, WWOX, YWHAG, ZEB2
Epilepsias de origen metabólico o mitocondrial
84 genes
ABAT, ACY1, ADK, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ARG1, ATIC, AUH, BCKDK, BTD, CAD, CNNM2, COQ4, COQ8A, CPT1A, CPT2, D2HGDH, DHFR, DNM1L, DPYD, DPYS, ETFA, ETFB, ETFDH, ETHE1, FH, FOLR1, GAMT, GATM, GCDH, GCH1, GCSH, GLDC, GLUL, GNE, GPHN, HIBCH, HLCS, HPD, IDH2, ITPA, L2HGDH, LIAS, MDH2, MIPEP, MLYCD, MMACHC, MOCS1, MOCS2, MOCS3, MTFMT, MTHFR, NDUFAF3, NDUFS6, PC, PCBD1, PDHA1, PDSS2, PGK1, PHGDH, PLPBP, PNPO, POLG, PRODH, PSAT1, PSPH, PTS, QDPR, SERAC1, SLC19A3, SLC25A1, SLC25A15, SLC25A42, SLC2A1, SLC39A8, SLC46A1, SLC6A8, SLC6A9, SUOX, TPK1, WARS2
Esclerosis lateral amiotrófica ampliado
42 genes
ALS2, ANG, ANXA11, ARHGEF28, BSCL2, CCNF, CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, ERBB4, EWSR1, FIG4, FUS, GLE1, GLT8D1, HEXA, HNRNPA1, HNRNPA2B1, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SLC52A2, SLC52A3, SOD1, SPG11, SQSTM1, SS18L1, TAF15, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP
Esclerosis lateral amiotrófica básico
3 genes
FUS, SOD1, TARDBP
Esclerosis lateral amiotrófica y demencia frontotemporal
15 genes
CCNF, CHCHD10, CHMP2B, DCTN1, FUS, HNRNPA1, HNRNPA2B1, MATR3, OPTN, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VCP
Genes nucleares de enfermedades de origen mitocondrial
305 genes
AARS2, AASS, ABAT, ABCB7, ABCD1, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, AFG3L2, AGK, AIFM1, AK2, ALAS2, ALDH2, ALDH4A1, ALDH6A1, AMACR, AMT, APTX, ASS1, ATP5F1A, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, BOLA3, C12ORF65, CARS2, CHCHD10, CISD2, CLPP, COA5, COA6, COA8, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7B, CPOX, CPS1, CPT1A, CPT2, CYC1, CYCS, CYP27A1, D2HGDH, DARS2, DBT, DGUOK, DHODH, DIABLO, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FH, FLAD1, FOXRED1, FXN, G6PC, GAMT, GARS1, GATM, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GTPBP3, GYS1, GYS2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, IMMT, ISCU, IVD, KARS1, KIF1B, L2HGDH, LARS1, LARS2, LIAS, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFN2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, MTRR, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB3, NDUFB6, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFU1, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OTC, OXCT1, PANK2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PET100, PGAM2, PINK1, PNKD, PNPT1, POLG, POLG2, PPARGC1A, PPOX, PREPL, PRKN, PUS1, RARS2, REEP1, RMND1, RRM2B, RYR1, SACS, SARDH, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SIRT1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC37A4, SLC3A1, SLC6A8, SOD1, SOD2, SPAST, SPG7, STAR, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TAZ, TFAM, TFB1M, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TP53, TPK1, TRMT5, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UCP1, UCP2, UCP3, UNG, UQCC2, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, XPNPEP3, YARS2
Hiperekplexia
8 genes
ARHGEF9, ASNS, ATAD1, FKTN, GLRA1, GLRB, GPHN, SLC6A5
Hipoplasia pontocerebelosa
31 genes
AMPD2, ASPM, ATR, CASK, CDK5RAP2, CENPJ, CEP152, CEP63, CHMP1A, CLP1, DYNC1H1, DYRK1A, EXOSC3, MBD5, MCPH1, OPHN1, PCLO, PCNT, PNKP, PQBP1, RARS2, SEPSECS, STIL, TSEN2, TSEN34, TSEN54, TUBB2B, VLDLR, VPS53, VRK1, WDR62
Holoprosencefalia
21 genes
CDON, CILK1, DHCR7, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, NOG, PRRX1, PTCH1, SHH, SIX3, STIL, TDGF1, TGIF1, ZIC2
Leucodistrofia megalencefálica con quistes subcorticales
2 genes
HEPACAM, MLC1
Leucodistrofia metacromática
3 genes
ARSA, PSAP, SUMF1
Leucodistrofia relacionada con POLR3 (síndrome 4H)
5 genes
POLR1A, POLR1C, POLR3A, POLR3B, POLR3K
Leucodistrofia y otras leucoencefalopatías
172 genes
AARS2, ABAT, ABCD1, ACER3, ACOX1, ADAR, AIFM1, AIMP1, AIMP2, ALDH3A2, APP, ARSA, ASPA, AUH, B3GALNT2, BCAP31, BEST1, CBS, CLCN2, CLN5, CLN6, CLN8, COA8, COL4A1, COL4A2, COX15, CSF1R, CST3, CTC1, CTSA, CTSD, CYP27A1, DAG1, DARS1, DARS2, DEGS1, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPRS1, ERCC2, ERCC3, ERCC6, ERCC8, FA2H, FAM126A, FBXL4, FOLR1, FOXRED1, FUCA1, GALC, GALT, GAN, GBE1, GFAP, GJA1, GJB1, GJC2, GLA, GLB1, GM2A, GRN, GSN, GTF2H5, HEPACAM, HEXA, HEXB, HIKESHI, HSD17B4, HSPD1, HTRA1, IBA57, IFIH1, ISCA2, ITM2B, KARS1, KCNT1, KCTD7, L2HGDH, LAMA2, LARS2, LMNB1, LYRM7, MAG, MARS2, MCOLN1, MFSD8, MLC1, MPLKIP, MPV17, MTHFR, NAXE, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NKX6-2, NOTCH3, NUBPL, PAH, PC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLG, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, PPT1, PSAP, PTEN, PYCR2, RARS1, RARS2, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF216, RPIA, SAMHD1, SCP2, SDHA, SDHAF1, SDHB, SDHD, SLC16A2, SLC17A5, SLC25A12, SOX10, SUMF1, TMEM106B, TPP1, TREM2, TREX1, TUBB4A, TYMP, TYROBP, UFM1, VPS11
Leucodistrofias hipomielinizantes
40 genes
AIFM1, AIMP1, AIMP2, BCAP31, DARS1, DEGS1, EPRS1, ERCC2, ERCC3, ERCC6, ERCC8, FAM126A, FOLR1, FUCA1, GALT, GJA1, GJC2, GTF2H5, HIKESHI, HSPD1, MCOLN1, MPLKIP, NKX6-2, PLP1, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, PYCR2, RARS1, RNF113A, SLC16A2, SLC17A5, SLC25A12, SOX10, TMEM106B, TUBB4A, UFM1, VPS11
Lipofuscinosis neuronal ceroidea
14 genes
ATP13A2, CERS1, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1
Migraña ampliado
42 genes
ACVRL1, ALDH7A1, ALPK1, AMACR, APP, ARX, ATP1A2, ATP1A3, CACNA1A, CCM2, CDKL5, CSNK1D, ENG, FOLR1, FOXG1, GAMT, GDF2, KCNK18, KCNK6, KCNQ2, KRIT1, MECP2, NOTCH3, PCDH19, PDCD10, PDGFB, PEX11B, PGK1, PHGDH, PNKD, PNPO, POLG, PPT1, PRRT2, SCN1A, SLC1A3, SLC2A1, SLC4A4, SMAD4, STIM1, STXBP1, TREX1
Migraña hemipléjica familiar o esporádica
28 genes
ACVRL1, ALPK1, AMACR, APP, ATP1A2, ATP1A3, CACNA1A, CCM2, CSNK1D, ENG, GDF2, KCNK6, KRIT1, NOTCH3, PDCD10, PDGFB, PEX11B, PGK1, PNKD, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1, SLC4A4, SMAD4, STIM1, TREX1
Miopatía nemalínica
14 genes
ACTA1, BIN1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, MTM1, MYO18B, MYPN, NEB, TNNT1, TPM2, TPM3
Miopatías distales
40 genes
ACTN2, ADSS1, AGL, ANO5, BVES, CAPN3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, EMD, FHL1, FLNC, GAA, GBE1, GNE, HSPB1, HSPB8, KLHL9, KY, LAMP2, LDB3, LMNA, MATR3, MMD2, MYH7, MYOT, NEB, PHKA1, PNPLA2, PYROXD1, SELENON, SQSTM1, TCAP, TIA1, TRPV4, TTN, VCP
Miopatías metabólicas
126 genes
AARS2, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, AGK, AGL, AIFM1, ALDOA, AMPD1, BCS1L, C12ORF65, C1QBP, CACNA1S, CASQ1, CAV3, CAVIN1, CHCHD10, CHKB, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT1A, CPT2, DGUOK, EARS2, ECHS1, ENO3, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FLAD1, FOXRED1, G6PC, GAA, GBE1, GFER, GFM1, GYG1, GYS1, HADHA, HADHB, IARS2, ISCU, KCNA1, KCNE3, KLHL24, LAMP2, LDHA, LIPT1, LPIN1, LRPPRC, MGME1, MICU1, MSTO1, MTO1, NDUFA9, NDUFAF6, NDUFS4, OPA1, PDHA1, PDHB, PDHX, PET100, PFKM, PGAM1, PGAM2, PGK1, PGM1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PNPLA2, PNPLA8, PNPT1, POLG, POLG2, PRKAG2, PSAT1, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RYR1, SCN4A, SCO1, SCO2, SDHA, SDHAF1, SIL1, SLC16A1, SLC19A3, SLC22A5, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SUCLA2, SUCLG1, SURF1, TACO1, TANGO2, TAZ, TK2, TMEM126B, TMEM65, TSEN54, TSFM, TTC19, TWNK, TYMP, YARS2
Miopatías miofibrilares y con cuerpos de inclusión
24 genes
ACTA1, BAG3, CRYAB, DES, DNAJB4, DNAJB6, FHL1, FLNC, HNRNPA1, HNRNPA2B1, HSPB8, KY, LDB3, MB, MYH2, MYOT, PLEC, PYROXD1, SQSTM1, TPM3, TRIM54, TRIM63, TTN, VCP
Miopatías realcionadas con el colágeno VI
4 genes
COL6A3, COL6A1, COL6A2, COL12A1
Miotonía y paramiotonía congénita
8 genes
ATP2A1, CACNA1S, CAV3, CLCN1, GLRA1, HINT1, HSPG2, SCN4A
Movimientos en espejo
4 genes
DCC, DNAL4, RAD51, NTN1
Neurodegeneración con acúmulo cerebral de hierro (NBIAS)
17 genes
AP4S1, ATP13A2, C19ORF12, COASY, CP, CRAT, DCAF17, DDHD1, FA2H, FTL, GTPBP2, PANK2, PLA2G6, REPS1, SCP2, TBCE, WDR45
Neuropatía ampliado
208 genes
AAAS, AARS1, ABCD1, ABHD12, ACO2, ADCY6, AFG3L2, AGTPBP1, AHNAK2, AIFM1, AMACR, APTX, ARHGEF10, ARL6IP1, ASAH1, ASCC1, ATAD3A, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, C12ORF65, C1ORF194, CCT5, CHCHD10, CLTCL1, CNTNAP1, COA7, COL6A5, COX10, COX6A1, CTDP1, CYP27A1, DCAF8, DCTN1, DCTN2, DDX20, DGAT2, DHTKD1, DNAJB2, DNAJB5, DNM1L, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, EMILIN1, EXOSC3, EXOSC8, FBLN5, FBXO38, FDXR, FGD4, FIG4, FLRT1, FLVCR1, FXN, GAN, GARS1, GDAP1, GEMIN2, GJB1, GJB3, GLA, GLE1, GM2A, GNB4, GNE, GSN, GTF2H2, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS1, KIF1A, KIF1B, KIF5A, L1CAM, LAS1L, LDB3, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTTP, MYH14, MYOT, NAGLU, NAIP, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, OPA3, PDK3, PDXK, PEX7, PHYH, PIEZO2, PLEKHG5, PLP1, PLS3, PMP2, PMP22, PNKP, POLG, PRDM12, PRNP, PRPS1, PRX, PTRH2, RAB7A, RAX2, RBM7, REEP1, RETREG1, RTN4IP1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SCP2, SCYL1, SEPTIN9, SERF1A, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A21, SLC25A46, SLC52A2, SLC52A3, SLC5A2, SLC5A7, SLC9A3R1, SMAD3, SMN1, SMN2, SORD, SOX10, SPAST, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TBCE, TECPR2, TFG, TIMM8A, TMEM126A, TRA2B, TRIM2, TRIP4, TRPA1, TRPV4, TTR, TUBB3, TWNK, TYMP, UBA1, UBA5, VAPB, VCP, VRK1, VWA1, WARS1, WFS1, WNK1, YARS1, ZFHX2, ZFYVE26, ZPR1
Neuropatía motora/Atrofia muscular espinal
63 genes
AARS1, AGTPBP1, AIFM1, ASAH1, ASCC1, ATP7A, BAG3, BICD2, BSCL2, CHCHD10, DCTN1, DDX20, DNAJB2, DYNC1H1, EMILIN1, EXOSC3, EXOSC8, FBXO38, GARS1, GEMIN2, GSN, GTF2H2, HARS1, HEXA, HEXB, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, KIF5A, LAS1L, MFN2, MORC2, NAIP, PLEKHG5, PLS3, RAX2, RBM7, REEP1, SCO2, SERF1A, SETX, SIGMAR1, SLC25A21, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SORD, SPTAN1, SYT2, TBCE, TFG, TRA2B, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS1, ZPR1
Neuropatías sensitivas y autonómicas hereditarias
28 genes
ARL6IP1, ATL1, ATL3, CCT5, CLTCL1, DNMT1, DST, ELP1, GLA, KIF1A, KIF5A, NAGLU, NGF, NTRK1, PRDM12, PRNP, RAB7A, RETREG1, SCN10A, SCN11A, SCN9A, SEPTIN9, SPTLC1, SPTLC2, TRPA1, TTR, WNK1, ZFHX2
Paraparesia espástica ampliado
138 genes
AAAS, ABCD1, ACOX1, ADAR, AFG3L2, AGTPBP1, AIMP1, ALDH18A1, ALDH3A2, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2B4, B4GALNT1, BICD2, BSCL2, BTD, C12ORF65, C19ORF12, CACNA1G, CAPN1, CCT5, CHP1, COASY, CPT1C, CSF1R, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DARS2, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, FLRT1, FXN, GAD1, GALC, GAN, GBA2, GBE1, GCH1, GFAP, GJC2, GLRX5, GPT2, GRID2, HACE1, HEXA, HSPD1, IBA57, IFIH1, IRF2BPL, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, L2HGDH, MAG, MARS1, MARS2, MTPAP, NFU1, NIPA1, NKX6-2, NT5C2, OPA3, PAH, PCYT2, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, PSEN1, RAB3GAP2, RARS1, REEP1, REEP2, RNASEH2B, RTN2, SACS, SELENOI, SETX, SLC16A2, SLC1A4, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SPR, TECPR2, TFG, TH, TLR2, TTR, TUBB4A, UBAP1, UCHL1, USP8, VAMP1, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27
Paraparesia espástica complicada
90 genes
AAAS, ADAR, AFG3L2, AGTPBP1, AIMP1, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, B4GALNT1, BICD2, BSCL2, C12ORF65, C19ORF12, CAPN1, CCT5, CHP1, CSF1R, CYP27A1, CYP2U1, CYP7B1, DARS2, DDHD1, DDHD2, DSTYK, ENTPD1, ERLIN2, FA2H, FARS2, FLRT1, FXN, GAD1, GALC, GBA2, GFAP, GJC2, GLRX5, GRID2, IBA57, IFIH1, KCNA2, KIF1A, KIF1C, KIF5A, KLC4, KY, L1CAM, MAG, MARS1, MARS2, NFU1, NIPA1, NKX6-2, NT5C2, PCYT2, PGAP1, PLP1, PNPLA6, POLR3A, RAB3GAP2, REEP1, RNASEH2B, SACS, SELENOI, SETX, SLC16A2, SLC25A46, SLC2A1, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TUBB4A, USP8, VAMP1, VPS37A, WDR48, ZFYVE26
Paraparesia espástica pura
38 genes
ABCD1, ALDH18A1, ALS2, AP5Z1, ATL1, ATP2B4, BSCL2, CPT1C, CYP2U1, CYP7B1, DDHD1, DNM2, ERLIN1, FXN, GCH1, HSPD1, IFIH1, KIF1A, KIF1C, KIF5A, NIPA1, NT5C2, PLP1, PNPLA6, REEP1, REEP2, RNASEH2B, RTN2, SLC33A1, SPAST, SPG11, SPG7, TH, UBAP1, UCHL1, WASHC5, ZFR, ZFYVE27
Parálisis periódica
10 genes
ATP1A2, CACNA1S, CLCN1, KCNE3, KCNJ18, KCNJ2, KCNJ5, RYR1, SCN4A, SLC12A3
Sarcoglicanopatías
4 genes
SGCA, SGCB, SGCD, SGCG
Schwannomatosis
8 genes
CABIN1, COQ6, LZTR1, NF2, PRKAR1A, SMARCB1, SMARCE1, SUFU
Sindrome de Leigh
36 genes
BCS1L, COQ2, COX10, COX15, ECHS1, FOXRED1, LIPT1, LRPPRC, MTFMT, NDUFA10, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF5, NDUFAF6, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV2, PDHA1, PDSS2, PET100, SCO2, SDHA, SLC19A3, SURF1, TACO1
Síndrome de Aicardi-Goutières
7 genes
ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
Síndrome de CACH (ataxia infantil con hipomielinización del sistema nervioso central)
5 genes
EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Síndrome de Dravet y convulsiones febriles
18 genes
ADGRV1, CHD2, CPA6, GABRA1, GABRD, GABRG2, HCN1, KCNA2, KCNQ2, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, STX1B, STXBP1
Síndrome de Ehlers-Danlos
20 genes
ADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469
Síndrome de Ehlers-Danlos e hiperlaxitud
54 genes
ABCC6, ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BMP1, C1R, C1S, CHST14, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, COL6A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, GORAB, HDAC4, LOX, LTBP4, PLOD1, PLOD2, PLOD3, PRDM5, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, VPS13B, ZNF469
Síndrome de Joubert
46 genes
AHI1, ARL13B, ARL3, ARMC9, ATF4, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP120, CEP164, CEP290, CEP41, CFAP410, CPLANE1, CSPP1, HYLS1, IFT172, INPP5E, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, LCA5, MKS1, NPHP1, NPHP3, OFD1, PDE6D, PIBF1, POC1B, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
Síndrome de Rett/Angelman
59 genes
ADSL, ARX, ATRX, BTBD9, CACNA1I, CAV1, CDKL5, CHD4, CHRNA5, CNTNAP2, CTNNB1, DDX3X, DYNC1H1, EEF1A2, EHMT1, EIF2B2, FOXG1, FOXP2, GABBR2, GRIN2A, GRIN2B, HCN1, HERC2, IQSEC2, KANSL1, KCNA2, KCNQ2, MBD5, MECP2, MED17, MEF2C, MTHFR, NRXN1, NTNG1, OPHN1, PCDH19, PLP1, ROGDI, SATB2, SCN1A, SCN2A, SCN8A, SHANK3, SHROOM4, SLC2A1, SLC39A13, SLC6A1, SLC9A6, SMC1A, STXBP1, SYNGAP1, TBL1XR1, TCF4, TRAPPC9, UBE3A, WAC, WDR45, ZBTB18, ZEB2
Síndrome de hipoventilación central
9 genes
ASCL1, BDNF, BMP2, DCTN1, EDN3, GDNF, MECP2, PHOX2B, RET
Síndrome miasténico congénito
34 genes
AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, FLAD1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, STIM1, SYT2, UNC13B, VAMP1
Trastorno del espectro autista
291 genes
ACHE, ADA, ADCY3, ADNP, AGAP2, AGO1, AGO3, AHDC1, AKAP9, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANXA1, APBB1, APH1A, ARID1B, ASAP2, ASH1L, ASPM, ASTN2, ASXL3, ATP10A, ATP2B2, AUTS2, AVPR1A, BAZ2B, BCKDK, BCL11A, BTAF1, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CACNB2, CAPRIN1, CASZ1, CC2D1A, CCNG1, CCT4, CDC42BPB, CDH13, CELF4, CEP135, CEP41, CGNL1, CHD2, CHD8, CHMP1A, CHRNA7, CIB2, CIBAR2, CIC, CLASP1, CNKSR2, CNOT3, CNR1, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP4, CPEB4, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CYFIP1, DAPP1, DDX3X, DEAF1, DENR, DIP2A, DIP2C, DISC1, DLGAP1, DLX3, DNMT3A, DOCK8, DPP10, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EFR3A, EHMT1, ELAVL3, ELP4, EMSY, EP400, ERBIN, ETFB, FBN1, FOXP1, FOXP2, GABRB3, GABRG3, GALNT8, GGNBP2, GIGYF1, GIGYF2, GPC4, GPHN, GRIA1, GRID1, GRIK2, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, HECTD4, HECW2, HIVEP3, HMGN1, ICA1, ILF2, INTS6, IRF2BPL, ITGB3, JARID2, KAT2B, KAT6A, KATNAL2, KCNJ10, KCNQ2, KCNQ3, KCNS3, KDM4C, KDM5B, KDM5C, KDM6A, KDM6B, KIAA1586, KIF14, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, LAMB1, LEO1, LMX1B, LZTR1, MACROD2, MAGEL2, MBD5, MBOAT7, MECP2, MED13, MED13L, MET, MFRP, MTOR, MYH10, MYO5A, MYO9B, MYT1L, NAA15, NAV2, NCKAP1, NCOR1, NEXMIF, NFE2L3, NINL, NLGN1, NLGN3, NLGN4X, NR3C2, NRXN1, NRXN3, NUAK1, NUDCD2, OPHN1, OR52M1, OTUD7A, OXTR, P2RX5, P4HA2, PAH, PAK2, PARD3B, PAX5, PER2, PHB, PHF2, PHF3, PHIP, PHRF1, PLCB1, PLXNA4, PLXNB1, POGZ, PON1, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKN, PRODH, PTCHD1, PTEN, PTK7, PYHIN1, RAB2A, RAB43, RAI1, RALGAPB, RANBP17, RBFOX1, RBM27, RELN, RIMS1, ROBO2, SAE1, SBF1, SCN1A, SCN2A, SCN8A, SCN9A, SEMA5A, SET, SETBP1, SETD2, SETD5, SHANK1, SHANK2, SHANK3, SHOX, SLC12A5, SLC35B1, SLC38A10, SLC6A1, SLC6A3, SLC7A3, SLC7A5, SLITRK5, SMAD4, SMARCA4, SMARCC2, SNX5, SPARCL1, SPAST, SPEN, SRCAP, SRSF11, ST8SIA2, STXBP1, STXBP5, SYNGAP1, TAF6, TANC2, TAOK2, TBC1D31, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TERF2, TET2, TMLHE, TNRC6B, TRAPPC9, TRIO, TRIP12, TRPC6, TRPM1, TSC2, UBE3A, UBE3C, UBN2, UBR5, UNC79, UPF3B, USP15, USP45, USP7, VIL1, WAC, WDFY3, WDFY4, WWOX, ZBTB20, ZC3H4, ZMYND11, ZNF804A
Trastorno del espectro autista sindrómico
179 genes
ADNP, ADSL, AHDC1, AHI1, ALDH1A3, ALDH5A1, ALG6, ANKRD11, AP1S2, ARHGEF9, ARID1B, ARX, ASXL3, ATP1A1, ATP1A3, BCL11A, BRAF, C12orf57, CACNA1A, CACNA1C, CAMK2A, CAMK2B, CCNK, CDK13, CDKL5, CEP290, CHD1, CHD2, CHD3, CHD7, CHD8, CHKB, CIC, CNKSR2, CNOT3, CNTNAP2, CTNNA2, CUX2, CYP27A1, DDX3X, DEAF1, DEPDC5, DHCR7, DHX30, DMD, DMPK, DNMT3A, DYRK1A, EBF3, EEF1A2, EHMT1, EP300, FBXO11, FMR1, FOXG1, FOXP1, FRMPD4, GABBR2, GABRA3, GATM, HCN1, HDAC4, HDAC8, HEPACAM, HERC2, HNRNPU, HOXA1, HUWE1, INTS1, IQSEC2, IRF2BPL, KAT6A, KCNB1, KIF5C, KMT2A, KMT2C, KPTN, LNPK, MAGEL2, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MTOR, NAA15, NACC1, NBEA, NF1, NFIB, NFIX, NIPBL, NR2F1, NSD1, NTNG1, NTRK2, OCRL, PACS1, PACS2, PAX6, PCCA, PCCB, PCDH19, PHF21A, PHF8, PHIP, PIK3R2, POGZ, POMGNT1, PPM1D, PPP2CA, PPP2R5D, PRKD1, PRODH, PRR12, PSMD12, PTEN, PTPN11, RAD21, RAI1, RALA, RERE, RHEB, RLIM, RNF135, RORA, RPS6KA3, SATB2, SCN1A, SETD1B, SETD5, SGSH, SHANK3, SIK1, SIN3A, SLC1A2, SLC25A24, SLC45A1, SLC6A1, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMC3, SNX14, SOX5, STAG1, STXBP1, SYNE1, SYNGAP1, SYT1, TAF1, TBC1D23, TCF20, TCF4, TLK2, TM4SF20, TRAF7, TRAPPC6B, TRIP12, TRRAP, TSC1, TSC2, TTI2, UBE3A, UNC13A, UPF3B, USP7, VPS13B, WAC, WASF1, WDR26, XPC, YY1, ZBTB20, ZNF462, ZSWIM6
Trastornos del movimiento ampliado
274 genes
AAAS, ABCD1, ACAT1, ACTB, ADAR, ADCY5, AFG3L2, AIFM1, AIRE, ALS2, ANO3, AP1S2, AP2S1, AP4S1, APTX, ARID2, ARSA, ARX, ATM, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATP7B, AUH, BCAP31, C19ORF12, CA2, CACNA1A, CACNA1B, CACNB4, CAMK4, CASR, CERS1, CHCHD2, CHMP2B, CIZ1, CLN3, CLN5, CLN6, CLN8, COASY, COL4A1, COL4A2, COL4A5, COL6A3, COMT, COX10, COX15, COX20, CP, CPLANE1, CRAT, CSF1R, CSTB, CTC1, CTSD, CTSF, CYP27A1, CYP2U1, DCAF17, DCC, DCTN1, DDC, DDHD1, DEPDC5, DLAT, DNAJC12, DNAJC5, DNAJC6, DNAL4, DPF2, EARS2, ECHS1, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ETHE1, FA2H, FAM111A, FASTKD2, FBXO7, FGF14, FGF23, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, GALC, GAMT, GATA3, GBA, GCDH, GCH1, GCM2, GFAP, GJA1, GLA, GLB1, GLRA1, GLRB, GM2A, GNA11, GNAL, GNAO1, GNAS, GNB1, GP1BB, GRN, GTPBP2, HADHA, HADHB, HEXA, HEXB, HIBCH, HIRA, HPCA, HPRT1, IFIH1, IRX5, KCNA1, KCNMA1, KCNQ2, KCTD17, KCTD7, KIF1C, KMT2B, L2HGDH, LIPT1, LRRK2, LYST, MAPT, MAT1A, MCOLN1, MECP2, MECR, MFSD8, MMADHC, MMUT, MPV17, MYORG, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX2-1, NKX6-2, NLRP5, NPC1, NPC2, NTN1, NUP62, NUS1, OCLN, OPA1, OPA3, PAH, PANK2, PARK7, PCCA, PCCB, PCDH12, PDE10A, PDE8B, PDGFB, PDGFRB, PDHA1, PDHX, PINK1, PLA2G6, PLEKHG2, PLP1, PNKD, PNKP, PNPT1, POLG, POLR3A, POLR3B, PPT1, PRKAR1A, PRKN, PRKRA, PRNP, PRRT2, PSAP, PSEN1, PSMB8, PTH, PTH1R, PTPN22, PTRHD1, PTS, QDPR, RAB39B, RAD51, REPS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, SAMHD1, SCN1A, SCN8A, SCN9A, SCP2, SDHA, SDHAF1, SERAC1, SGCE, SLC19A3, SLC1A3, SLC20A2, SLC25A19, SLC2A1, SLC30A10, SLC39A14, SLC46A1, SLC6A3, SLC6A5, SLC6A8, SMARCC2, SMPD1, SNCA, SNCB, SPG11, SPR, SQSTM1, STX16, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYNJ1, TBCE, TENM4, TH, THAP1, TIMM8A, TOR1A, TPI1, TPK1, TPP1, TREM2, TREX1, TRPM6, TTC19, TUBB4A, TWNK, TYROBP, UQCRQ, VAC14, VAMP2, VPS13A, VPS13C, VPS35, WDR45, WDR73, XK, XPR1, YY1, ZFYVE26
Trastornos del movimiento asociados a errores innatos del metabolismo
50 genes
ARSA, ATP13A2, ATP7B, AUH, CERS1, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, CYP27A1, DNAJC5, ETHE1, FASTKD2, FOLR1, GALC, GAMT, GBA, GCDH, GLB1, GM2A, GRN, HEXA, HEXB, HIBCH, KCTD7, L2HGDH, MFSD8, NDUFA1, NDUFA12, NDUFAF2, NDUFAF6, NDUFS7, NDUFV1, NPC1, NPC2, PNPT1, PPT1, PSAP, PTS, QDPR, SLC19A3, SLC25A19, SMPD1, SUCLG1, SUMF1, TPK1, TPP1