NGS ExoNIM®
ExoNIM® é a plataforma da NIMGenetics para o sequenciamento do exoma completo. O sucesso desta tecnologia se sustenta em sua flexibilidade e capacidade de adaptação às necessidades do paciente, o que a converte em uma ferramenta adequada para doenças com grande heterogeneidade genética ou variabilidade fenotípica.
ExoNIM®
ExoNIM® é a plataforma da NIMGenetics para o sequenciamento do exoma completo. O sucesso desta tecnologia se sustenta em sua flexibilidade e capacidade de adaptação às necessidades do paciente, o que a converte em uma ferramenta adequada para doenças com grande heterogeneidade genética ou variabilidade fenotípica.
Referência: EXN4001
Prazo de liberação: 55 dias úteis
ExoNIM® Trio
Padrão de análise ExoNIM® baseado no sequenciamento dos 19.000 genes do paciente e de seus progenitores. A informação genética dos progenitores permite determinar nas variantes identificadas, o padrão de herança. Esta forma de análise facilita a identificação das variantes causais do fenótipo do paciente.
As principais vantagens desta análise são:
- Possibilidade de identificação de novos genes não incluídos inicialmente no diagnóstico diferencial;
- Análise com a máxima eficiência no diagnóstico de transtornos do desenvolvimento (superior a 30% em casos sindrômicos com resultados negativos no array-CGH);
- Permite estabelecer o padrão de herança de todas as variantes identificadas;
- Maior rapidez no processo diagnóstico, evitando exames desnecessários
Referência: EXN3001
Prazo de liberação: 75 dias úteis
ExoNIM® Plus Epilepsia
Abordagem global para o estudo das diferentes formas clínicas da epilepsia que avalia 223 genes com relevância clínica.
Referência: EXN5001
Prazo de liberação: 55 dias úteis
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Diseños ExoNIM
Pediatría
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1125 | Alteraciones en el Metabolismo
del Folato y Homocisteína |
ADK,AHCY,ALDH6A1,CBS,CD320,CTH,FOLH1,GNMT,
LMBRD1,MAT1A,MCEE,MMAA,MMAB,MMACHC, MMACHC,MMADHC,MTHFR,MTR,MTRR,MUT,TCN2 |
| EXN1129 | Trastornos congénitos
de la glicosilación |
ALG1,ALG11,ALG12,ALG13,ALG2,ALG3,ALG6,ALG8,ALG9,
ATP6V0A2,B3GALTL,B4GALT1,CHST14,COG1,COG1,COG4, COG5,COG6,COG7,COG8,DDOST,DOLK,DPAGT1,DPM1, DPM2,DPM3,GNE,MGAT2,MOGS,MPDU1,MPI,NGLY1,PGM1, PGM3,PIGL,PIGN,PIGO,PIGT,PIGW,PMM2,RFT1,RFT1, SLC35A1,SLC35A2,SLC35C1,SRD5A3,STT3A,STT3B,TMEM165,TUSC3 |
| EXN1134 | Deficiencia de sulfito oxidasa,
molibdeno y xantina |
GPHN,MOCOS,MOCS1,MOCS2,SUOX,XDH |
| EXN1136 | Hiperglicemia no cetósica –
encefalopatía por glicina |
GCSH,GLDC,AMT,DLD,LIAS,NFU1,SLC6A9 |
| EXN1066 | Distroglicanopatías | B3GALNT2,B3GNT2,DAG1,DPM1,DPM2,DPM3,
FKRP,FKTN,GMPPB,ISPD,LARGE,POMGNT1, POMGNT2,POMK,POMK,POMT1,POMT2,TMEM5 |
| EXN1071 | Errores del metabolismo con
hiperamonemia |
ARG1,ASL,ASS1,CA5A,CPS1,GLUD1,GLUL,HLCS,
HMGCL,MCCC1,MCCC2,MMAA,MMAB,NAGS, NAGS,OTC,SLC22A5,SLC25A13 |
| EXN1007 | Déficit Intelectual | ADAT3,ADNP,ANK3,ANKRD11,AP4B1,APC2,
ARID1B,ASXL3,ATP8A2,AUTS2,CA8,CACNA1A, CACNG2,CAMTA1,CAMTA1,CC2D1A,CDH15, CHAMP1,CNNM2,COL4A3BP,CRADD,CRBN, CTCF,CTNNB1,DEAF1,DIP2B,DOCK8,DPP6,DYNC1H1, DYRK1A,EDC3,EEF1A2,ELOVL4,EPB41L1,FBXO31, FGFR2,FKRP,FKTN,FMN2,FOXG1,FOXP1,FOXP1,FTO, GATAD2B,GMPPA,GMPPB,GNB1,GPT2,GRIK2,GRIN1, GRIN2A,GRIN2BHACE1,HCN1,HEPACAM,HERC1, HERC2,HIVEP2,HNMT,HNRNPU,HOXA1,IGF1,INPP5E, KAT6A,KCNJ10,KCNK9,KDM1A,KIAA1033,KIF11,KIF1A, KIRREL3,KPTN,LARGE,LINS,LMAN2L,MAN1B1,MBD5, MBOAT7,MED13L,MED23,MEF2C,METTL23,MYT1L, NALCN,NDST1,NRXN1,NSUN2,PACS1,PGAP1,PGAP2, PGAP3,PIGG,PIGO,PIGV,PIGW,PIGY,PNKP,POGZ, POMGNT1,POMT1,POMT2,PPP2R1A,PPP2R5D,PPT1, PRSS12,PURA,PUS3,RAD21,RTN4IP1,SATB2,SETBP1, SETD5,SLC35A3,SLC6A17,SMARCA2,SMARCA4,SMC3, SMS,SNIP1,SOBP,SOX11,SPATA5,ST3GAL3,SYNGAP1, TAF2,TBCE,TBL1XR1,TECR,TMCO1,TNIK,TRAPPC9, TRIO,TTI2,TUSC3,VLDLR,WDR81,YAP1,ZBTB16, ZBTB18,ZC3H14,ZMYND11 |
| EXN1074 | Déficit Intelectual ligado
al cromosoma X |
ABCD1,ACSL4,AFF2,AGTR2,AIFM1,ALG13,AP1S2,
ARHGEF6,ARHGEF9,ARX,ATP6AP2,ATP7A,ATRX, BCOR,BCOR,BRWD3,CASK,CCDC22,CDK16,CDKL5, CLCN4,CLIC2,CNKSR2,CUL4B,DCX,DDX3X,DKC1, DLG3,DMD,EBP,EIF2S3,ELK1,FAAH2,FGD1,FLNA, FMR1,FRMPD4,FTSJ1,GDI1,GK,GPC3,GPC3,GRIA3, GSPT2,HCCS,HCFC1,HDAC8,HNRNPH2,HPRT1, HSD17B10,HUWE1,IDSIGBP1,IL1RAPL1,IQSEC2, KDM5C,KIAA2022,KIF4A,KLF8,KLHL15,L1CAM, LAMP2,LAS1L,MAGT1,MAOA,MBTPS2,MECP2, MED12,MID1,MID2,NAA10,NDP,NDUFA1,NHS, NLGN3,NLGN4X,NONO,NSDHL,NXF5,OCRL, OFD1,OGT,OPHN1,OTC,PAK3,PCDH19,PDHA1, PGK1,PHF6,PHF8,PLP1,PORCN,PQBP1,PRPS1, PTCHD1,RAB39B,RAB40AL,RBM10,RBMX, RLIM,RPL10,RPS6KA3,SHROOM4,SLC16A2,SLC35A2, SLC6A8,SLC9A6,SMC1A,SMS,SOX3,SRPX2,SYN1,SYP, TAF1,THOC2,TIMM8A,TSPAN7,UBE2A,UPF3B, USP27X,USP9X,USP9X,WDR13,ZC4H2,ZCCHC12, ZDHHC15,ZDHHC9,ZMYM3,ZNF41,ZNF674,ZNF711,ZNF81 |
| EXN1078 | Autismo | ADCY3,ADNP,AFF2,AGAP2,ALDH5A1,ALDH7A1,AMT,
ANK3,AP1S2,ARX,ATRX,AUTS2,AVPR1A,BDNF, BDNF,BRAF,CACNA1C,CASK,CDKL5,CHD7,CHD8, CIC,CLASP1,CNOT3,CNTNAP2,CREBBP,CTNNB1, CTNND2,DDC,DHCR7,DHFR,DIP2C,DPP6,DYNC1H1, DYRK1A,EHMT1,FAM47A,FGD1,FMR1,FOLR1,FOXG1, FOXG1,FOXP1,FOXP2,GAMT,GATM,GCH1,GRIK4, GRIN2A,GRIN2B,HDAC8,HERC2HPRT1,IL1RAPL1, KCNQ2,KDM5C,KIAA2022,LAMC3,MBD5,MECP2, MED12,MED13,MEF2C,MET,MID1,MYO5A,NHS,NIPBL, NLGN3,NLGN4X,NRXN1,NSD1,NTNG1,OPHN1, PAFAH1B1,PAX5,PCBD1,PCDH11X,PCDH19,PHF3,PHF6, PLP1,PNKP,PNPO,PQBP1,PTCHD1,PTEN,PTPN11,PTS, QDPR,RAB39B,RAD21,RAI1,RPL10,SCN1A,SCN2A,SETBP1, SHANK3,SLC18A1,SLC18A2,SLC2A1,SLC6A3,SLC6A8,SLC9A6, SMARCB1,SMARCC2,SMC1A,SPR,SRSF11,STXBP1,TAF6, TBX1,TCF4,TH,TMLHE,TSC1,TSC2,UBE2A,UBE3A,UBN2, UPF3B,VPS13B,ZEB2 |
| EXN1001 | Síndrome de Aicardi Goutieres | ADAR,IFIH1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,
TREX1 |
| EXN1101 | Síndrome de Adams-Oliver | ARHGAP31,DLL4,DOCK6,EOGT,NOTCH1,RBPJ |
| EXN1106 | Talla baja | ATRX,BLM,BTK,CREBBP,CUL7,DHCR7,EP300,ERCC6,
ERCC8,FGD1,GH1,GHR,GHRHR,GLI2,GLI2,HESX1, IGF1,IGF1R,INSR,KDM6A,KRAS,LHX3,KMT2D,NBN, NIPBL,PITX2,POU1F1,PROP1,PTPN11,RAF1,ROR2, RPS6KA3,SHOX,SMARCAL1,SMC1A,SMC3,SOS1, SOX2,SOX3,SRCAP,STAT5B,STAT5B,TBCE,THRB,TRIM37,WRN |
| EXN1110 | Síndrome de Hermansky‐Pudlak | ABCA3,AP3B1,BLOC1S6,CSF2RA,DTNBP1,ELMOD2,
HPS1,HPS3,HPS4,HPS5,HPS6,MUC5B,NKX2-1, SFTPA1,SFTPA1,SFTPA2,SFTPB,SFTPC,SFTPD,TERT |
| EXN1012 | Rasopatías | A2ML1,BRAF,CBL,HRAS,KRAS,LZTR1,MAP2K1,
MAP2K2,NF1,NRAS,PTPN11,RAF1,RASA1,RASA2, RASA2,RIT1,RRAS,SHOC2,SOS1,SOS2,SPRED1 |
| EXN1116 | Síndrome de Meckel | B9D1,B9D2,CC2D2A,CEP290,KIF14,MKS1,NPHP3,
RPGRIP1L,TCTN2,TMEM107,TMEM216,TMEM231, TMEM67 |
| EXN1121 | Síndrome de Jarcho Levin | ACVR1,ANKRD11,CHD7,CHRNG,DLL3,FLNB,GDF6,
GPC3,HES7,HSPG2,IKBKG,JAG1,KMT2B,LFNG,LFNG, MESP2,MKKS,MNX1,NOTCH2,PAX1,RECQL4,ROR2, SLC26A2,SOX9,WNT4 |
| EXN1124 | Displasia septoóptica | KAL1,ARNT2,CDON,DHCR7,DISP1,FGF8,FGFR1,GAS1,
GLI2,HESX1,LHX3,LHX4,OTX2,PAX6,PAX6,PROKR2, PROP1,PTCH1,SHH,SIX3,SOX2,SOX3,SUFU,TAX1BP3, TGIF1,ZIC2 |
| EXN1127 | Síndrome de Waardenburg | EDN3,EDNRB,KIT,MITF,PAX3,SNAI2,SOX10 |
| EXN1135 | Protuberancia Preauricular | ALX3,ANKRD11,APRT,ARID1B,B3GALTL,BCOR,CCDC22,
CDK5RAP2,CHD7,COL25A1,EDNRA,EFTUD2,EYA1, FGFR1,FGFR1,FLNB,GLI3,GNAI3,GPC3,IRX5,KDM6A, KIF7,KMT2D,MAFB,NAA10,PLCB4,SALL1,SEMA3E, SF3B4,SIX1,SIX5,SIX6,SPG7,TCOF1,TXNL4A,UBE3B,VPS13B |
| EXN1144 | Asociación VACTERL/VATER y
síndromes incluidos en el diagnóstico diferencial |
CHD7,FAM58A,FBN2,FGF8,FOXF1,FRAS1,FREM2,GDF6,
GLI3,HAAO,HOXA13,HOXD13,JAG1,KCNJ2,KCNJ2, KYNU,LPP,LRP4,MID1,MKKS,MNX1,MYCN,NIPBL, NOTCH2,PTEN,RBM8A,RECQL4,RPL35A,RPL5,RPS10, RPS11,RPS17,RPS19,RPS24,RPS26,RPS7,SALL1,SALL4, SMC1A,SMC3,SOX2,SOX2,SPINT2,TBX3,TBX5,TRAP1, VANGL1,WNT4,WNT5A,WNT7A,ZIC3 |
| EXN1148 | Síndromes orofaciodigital | C2CD3,C5orf42,DDX59,IFT57,INTU,KIAA0753,NEK1,
OFD1,SCLT1,TBC1D32,TCTN3,TMEM107,TMEM138, TMEM216,TMEM216,TMEM231,WDPCP |
| EXN1016 | Trastornos Congénitos de la
Morfogénesis Cerebral |
ACTB,ACTG1,GPR56,AKT3,AMPD2,ARFGEF2,ARX,
ASNS,ASPM,ATP6V0A2,B3GALNT2,B3GALTL,B3GNT1, BRWD3,BRWD3,CASK,CCND2,CDK5,CDK5RAP2,CDON, CENPJ,CEP135,CEP152,CEP63,CHD7,CHMP1A,CLP1, COL18A1,COL4A1,COL4A2,COL4A4,CPT2,CUL4B,DCX, DISP1,DLL1,DYNC1H1,DYRK1A,EMX2,EOMES,ERMARD, ERMARD,EXOSC3,EXOSC8,FAT4,FGF8,FGFR3,FH,FKRP, FKTN,FLNA,FOXH1GAS1,GLI2,GLI3,GMPPB,GPSM2,HESX1, IER3IP1,ISPD,KATNB1,KCNT1,KIAA1279,KIF2A,KIF5C, KIF7,L1CAM,LAMA2,LAMB1,LAMC3,LARGE,MBD5,MCPH1, MED12,MED17,MEF2C,MTOR,NDE1,NODAL,NSDHL,OCLN, OFD1,OPHN1,OTX2,PAFAH1B1,PAX3,PAX6,PCLO,PEX7, PIK3CA,PIK3R2,POMGNT1,POMGNT2,POMK,POMT1,POMT2, PQBP1,PTCH1,PTEN,RAB18,RAB3GAP1,RAB3GAP2,RARS2, RELN,RTTN,SEPSECS,SHH,SIX3,SLC12A6,SNAP29,SOX2, SOX3,SRD5A3,SRPX2,STIL,TBC1D20,TBC1D24,TDGF1,TGIF1, TMEM5,TSC1,TSC2,TSEN2,TSEN34,TSEN54,TUBA1A,TUBA8, TUBB,TUBB2A,TUBB2B,TUBB3,TUBB4A,TUBG1,UPF3B, VLDLR,VPS53,VRK1,WDR62,YWHAE,ZEB2,ZIC2,ZNF462 , |
| EXN1022 | Síndrome de Kabuki | ANKRD11,CDH7,KDM1A,KDM6A,KMT2A,KMT2D,SOX3 |
| EXN1034 | Displasias Óseas | ACP5,ALPL,ANKH,ANO5,ARHGAP31,ARSE,ATP6V0A2,
B3GALT6,B4GALT7,BMP2,BMPR1B,CA2,CANT1,CASR, CASR,CC2D2A,CDH3,CDKN1C,CEP290,CHST14,CHST3, CHSY1,CLCN5,CLCN7,COL10A1,COL11A1,COL11A2,COL1A1, COL1A2,COL2A1,COL9A1,COL9A2,COL9A3,COMP,CRTAP, CTSK,CUL7,DDR2,DHCR24,DLX3,DMP1,DMP1,DYM,DYNC2H1, EBP,EIF2AK3,ENPP1,ESCO2,EVC,EVC2,EXT1,EXT2AMER1, FAM20C,FBLN1,FBN1,FBXW4,FERMT3,FGF10,FGF23, FGFR1,FGFR2,FGFR3,FKBP10,FLNA,FLNB,FMN1,GALNT3, GDF5,GJA1,GLI3,GNAS,GORAB,GPC6,GREM1,HDAC4, HOXD13,HPGD,HSPG2,ICK,IFITM5,IFT122,IFT140,IFT80, IHH,KIF22,KIF7,LEMD3,LEPRE1,LIFR,LMBR1,LMNA, LRP4,LRP5,MAFB,MATN3,MGP,MKS1,MMP13,MMP2, MMP9,MTAP,MYCN,NEK1,NIPBL,NKX3-2,NOG,NOTCH2, NPR2,NSDHL,OBSL1,OSTM1,PAPSS2,PCNT,PEX7,PHEX, PIGV,PITX1,PLEKHM1,PLOD2,PPIB,PRKAR1A,PTDSS1,PTH1R, PTHLH,PTPN11,PYCR1,RASGRP2,RECQL4,ROR2,RPGRIP1L, RUNX2,SALL1,SALL4,SERPINH1,SH3PXD2B,SHH,SHOX, SLC25A12,SLC26A2,SLC34A3,SLC35D1,SLC39A13,SLCO2A1, SMARCAL1,SNX10,SOST,SOX9,SP7,SULF1,TBCE,TBX15,TBX3, TBX5,TBXAS1,TCIRG1,TCTN3,TGFB1,THPO,TMEM216, TMEM67,TNFRSF11A,TNFRSF11B,TNFSF11,TP63,TREM2, TRIP11,TRPS1,TRPV4,TYROBP,WDR35,WISP3,WNT3,WNT5A, WNT7A,ZMPSTE24 , |
| EXN1037 | Síndrome de Donnai-Barrow | LRP2,GPSM2,KIF7,CLCN5,OCRL,EFNB1 |
| EXN1038 | Microcefalia Primaria Hereditaria y
Síndrome de Meier-Gorlin |
AAAS,AIMP1,ARFGEF2,ARNT2,ASNS,ASPM,ASXL1,
ASXL3,ATP6V0A2,ATR,ATRX,AUTS2,BUB1B,CASC5,CASC5, CASK,CDC6,CDK5RAP2,CDK6,CDKL5,CDT1,CENPE,CENPF, CENPJ,CEP135,CEP152,CEP63,CIT,CLP1,COX7B,CREBBP, CRIPT,CTCF,CTNNB1,CYB5R3,DHCR24,DIAPH1,DKC1,DNA2, DOCK6,DPM1,DPM1,DYNC1H1,DYRK1A,EFTUD2,EIF2S3, EP300,EPG5,ERCC6,EXOSC3,FANCA,FOXG1GLYCTK,GMPPB, HMGB3,IER3IP1,KATNB1,KDM5C,KIAA1279,KIF11,KIF2A,KIF5C, LIG4,MBD5,MCM4,MCPH1,MECP2,MED17,MFSD2A,MYCN,NBN, NDE1,NHEJ1,NIN,NIPBL,NSDHL,OCLN,ORC1,ORC4,ORC6,PAK3, PCNT,PDHA1,PHC1,PHGDH,PLK4,PNKP,POMT1,PPP1R15B, PQBP1,PYCR2,QARS,RAB18,RAB3GAP1,RAB3GAP2,RBBP8,SASS6, SEPSECS,SF3B4,SHH,SLC16A2,SLC1A4,SLC25A19,SLC2A1,SLC9A6, SMAD4,SOX11,SOX2,SPATA5,STAMBP,STIL,TAF2,TBC1D20,TBX1, TCF4,THOC6,TRAPPC9,TRMT10A,TSEN2,TSEN34,TSEN54,TUBA1A, TUBB,TUBGCP4,TUBGCP6,UBE3A,USP18,VPS13B,VPS53,WDR62,ZEB2,ZNF335 |
| EXN1044 | Síndrome de Sotos y síndromes relacionados | EZH2,GPC3,NFIX,NSD1 |
| EXN1005 | Síndrome de Cornelia de Lange | HDAC8,NIPBL,RAD21,SMC1A,SMC3 , |
| EXN1051 | Artrogriposis | CHST14,ECEL1,FBN2,MYBPC1,MYH3,MYH8,PIEZO2,
TNNI2,TNNT3,TPM2 |
| EXN1054 | Síndrome de Coffin-Siris | ARID1A,ARID1B,SMARCA4,SMARCB1,SMARCE1 , |
| EXN1006 | Craneosinostosis | COLEC11,CYP26B1,EFNB1,ERF,FBN1,FGFR1,FGFR2,FGFR3,
FREM1,GLI3,IFT122,IL11RA,MASP1,MSX2,MSX2,RAB23, RECQL4,TCF12,TGFBR1,TWIST1,ZIC1,ALX4,POR |
| EXN1055 | Síndrome de Rubinstein-Taybi | CREBBP,EP300 , |
| EXN1061 | Osteogénesis Imperfecta | ALPL,BMP1,COL1A1,COL1A2,CREB3L1,CRTAP,FKBP10,IFITM5,
LEPRE1,LRP5,PLOD2,PLS3,PPIB,SERPINF1,SERPINF1, SERPINH1,SP7,TMEM38B,WNT1 , |
| EXN1062 | Síndrome de Robinow | DVL1,DVL3,FGD1,KDM6A,KMT2D,MID1,ROR2,SPECC1L,WNT5A , |
| EXN1064 | Disostosis facial | CHD7,DHODH,EFTUD2,MYCN,POLR1C,POLR1D,SF3B4,TCOF1 |
| EXN1082 | Malformación de miembros | AKT1,ALX4,ARHGAP31,ARL6,B3GAT3,B9D1,B9D2,BBS1,BBS10,
BBS12,BBS2,BBS4,BBS5,BBS7,BBS7,BBS9,BHLHA9,BMP2,BMPR1A, BMPR1B,CC2D2A,CDH3,CEP290,CHRNG,CHST3,CHSY1,CREBBP, DHCR7,DHODH,DKK1,DLX5,DOCK6,EIF4A3,EN1,ESCO2, EVC,EVC2,EXT1,FBLN1,FBN1,FBXW4,FBXW4,FGF10,FGF16, FGF4,FGF8,FGF9,FGFR1,FGFR2,FGFR3,FMN1,FRAS1FREM2, GDF5,GJA1,GLI3,GNAS,GPC3,GREM1,GRIP1,HAND2,HDAC4, HOXA13,HOXD13,IDH1,IDH2,IFT122,IFT43,IHH,KIF7,LMBR1, LMX1B,LRP4,MGP,MKKS,MKS1,MYCN,MYH3,NECTIN4,NIPBL, NKX2-5,NOG,NPHP3,NPR2,OFD1,PDE4D,PIGV,PIK3CA,PITX1,POR, PORCN,PRKAR1A,PTCH1,PTCH2,PTEN,PTH1R,PTHLH,RAB23, RAD21,RBPJ,RECQL4,ROR2,RPGRIP1L,RUNX2,SALL1,SALL4, SETD5,SF3B4,SHH,SHOX,SLC26A2,SMC3,SOX5,SOX6,SOX9, SPRY4,TBX15,TBX3,TBX4,TBX5,TCTN2,TMEM216,TMEM67, TP63,TRAP1,TRIM32,TRPS1,TTC8,TWIST1,WDR19,WDR35, WNT10B,WNT3,WNT7A |
| EXN1088 | Fisura palatina y labio leporino | BMP4,FGF8,FGFR2,IRF6,LHX8,MSX2,PVRL1,SATB2,TBX10,
TBX22,TGFBR1,VAX1 |
| EXN1090 | Síndrome de Bardet-Biedl | ARL6,BBIP1,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,
CCDC28B,CEP290,IFT27,LZTFL1,LZTFL1,MKKS,MKS1, SDCCAG8,TMEM67,TRIM32,TTC8,WDPCP |
| EXN1091 | Sobrecrecimiento y macrocefalia | AIP,AKT1,AKT2,AKT3,CDKN1C,CUL4B,DICER1,DIS3L2,
DNMT3A,EZH2,FBN1,FGFR3,FGFRL1,FMR1,FMR1,GLI3, GNAQ,GPC3,HERC1,HMGA2,IGF1R,LRP4,MED12,MTOR, NFIX,NSD1,PAX1,PDGFRB,PHF6,PIK3CA,PIK3R2,PPP2R5B, PPP2R5C,PTCH1,PTEN,RASA1,RNF125,RNF135,SETD2,SIM1, TGFB3,TGFB3,UPF3B |
| EXN1093 | Síndrome de Angelman y
síndromes incluidos en el diagnóstico diferencial |
ADSL,ARX,ATRX,CDKL5,CNTNAP2,CTNNB1,EHMT1,FOLR1,
FOXG1,HERC2,MBD5,MECP2,MEF2C,MTHFR,MTHFR,NRXN1, OPHN1,PCDH19,PNKP,PQBP1,SLC2A1,SLC9A6,TCF4,UBE3A,ZEB2 |
| EXN1092 | Hemiplejia alternante de la infancia | ATP1A2,ATP1A3,CACNA1A,SLC1A3,SLC2A1 |
Diseños ExoNIM
Otorrinolaringología
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1035 | Síndrome de Usher | ABHD12,CDH23,CIB2,CLRN1,COL4A6,DFNB31,
GIPC3,GPR98,HARS,KARS,LHFPL5,LOXHD1, MYO7A,PCDH15,PCDH15,PDZD7,TNC,USH1C, USH1G,USH2A |
| EXN1018 | Sordera Autosómica Recesiva | BSND,CABP2,CDH23,CIB2,CLDN14,COL11A2,
DFNB31,DFNB59,ESRRB,GIPC3,GJB2,GJB3, GJB6,GPSM2,GPSM2,GRXCR1,HGF,ILDR1, LHFPL5,LOXHD1,LRTOMT,MARVELD2, MSRB3,MYO15A,MYO3A,MYO6,MYO7A,OTOF, OTOGL,PCDH15,PNPT1,PTPRQ,RDX,SERPINB6, SLC26A4,SLC26A5,TECTA,TMC1,TMIE,TMPRSS3, TPRN,TPRN,TRIOBP,TSPEAR,USH1C |
| EXN1079 | Síndrome del acueducto vestibular dilatado | CHD7,EYA1,FOXI1,KCNJ10,PAX3,SIX1,SIX5,
SLC26A4 |
| EXN1009 | Hipoacusias Familiares | ACTB,ACTG1,ADCY1,ADGRV1,AIFM1,ATP2B2,
ATRX,BCS1L,BSND,CABP2,CACNA1D,CCDC50, CD151,CD164,CD164,CDC14A,CDH23,CEACAM16, CHSY1,CIB2,CISD2,CLCNKA,CLCNKB,CLDN14, CLIC5,CLPP,CLRN1,COCH,COL11A1,COL11A2, COL2A1,COL4A5,COL4A6,COL9A1,CRYM,DCDC2, DFNA5,DFNB59,DIABLO,DIAPH1,DIAPH3,DIAPH3, DLX5,DNMT1,DSPP,ELMOD3,EPS8,ERCC6,ESPN, ESRRB,EYA1,EYA4FADD,FGF10,FGF3,FGFR2,FGFR3, FOXI1,GATA3,GFER,GIPC3,GJB1,GJB2,GJB3,GJB6, GPSM2,GRHL2,GRXCR1,GRXCR2,HARS,HARS2,HGF, HOMER2,HOXA1,HOXA2,HSD17B4,IGF1,ILDR1,IRX5, ITM2B,JAG1,KARS,KCNJ10,KCNQ1,KCNQ4,KITLG, LARS2,LHFPL5,LHX3,LOXHD1,LRP2,LRTOMT,MAP3K7, MARVELD2,MCM2,MET,MITF,MPZ,MSRB3,MTHFR, MYH14,MYH9,MYO15A,MYO3A,MYO5A,MYO6,MYO7A, NLRP3,NOG,OSBPL2,OTOA,OTOF,OTOG,OTOGL,P2RX2, PAX3,PCDH15,PDZD7,PEX1,PEX6,PMP22,PNPLA8, PNPT1,POLD1,POLR1A,POLR1C,POLR1D,POU3F4,POU4F3, PRPS1,PTPRQ,RAI1,RDX,S1PR2,SALL1,SALL4,SERAC1, SERPINB6,SH3PXD2B,SIX1,SLC17A8,SLC19A2,SLC26A4, SLC26A5,SLC29A3,SLC33A1,SLC4A11,SLC52A2,SLC52A3, SLITRK6,SMAD4,SMPX,SOS1,SOX10,STRC,SYNE4,TBC1D24, TBX22,TECTA,TIMM8A,TJP2,TMC1,TMIE,TMPRSS3, TNC,TPRN,TRIOBP,TSPEAR,TXNL4A,TYR,UBR1,USH1C,USH1G,USH2A,WFS1,WHRN |
Diseños ExoNIM
Oftalmología
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1013 | Retinosis Pigmentaria y
Distrofia Macular Viteliforme |
ABCA4,ABHD12,GPR125,ADIPOR1,AGBL5,AIPL1,
ARL2BP,ARL3,ARL6,BBS1,BBS2,BEST1,C2orf71, C8orf37,C8orf37,CA4,CDHR1,CERKL,CLRN1,CNGA1, CNGB1,CRB1,CRX,CYP4V2,DHDDS,DHX38,EMC1,EYS, FAM161A,FLVCR1,FSCN2,GUCA1B,HGSNAT,HK1,IDH3B, IFT140,IFT172,IMPDH1,IMPG2,KIAA1549,PLK1S1,PLK1S1, KLHL7,LRAT,MAK,MERTK,MVK,NEK2,NEUROD1,NR2E3, NRL,OFD1PANK2,PDE6A,PDE6B,PDE6G,POMGNT1, PRCD,PROM1,PRPF3,PRPF31,PRPF4,PRPF6,PRPF8, PRPH2,RBP3,RDH12,RGR,RHO,RLBP1,ROM1,RP1,RP1L1, RP2,RP9,RPE65,RPGR,SAG,SEMA4A,SLC7A14,SNRNP200, SPATA7,SPP2,TOPORS,TRNT1,TTC8,TULP1,USH2A, WDR19,ZNF408,ZNF513 , |
| EXN1142 | Distrofia macular viteliforme | BEST1,IMPG1,IMPG2,PRPH2 |
| EXN1143 | Atrofia óptica | ACO2,AFG3L2,C12orf65,MFN2,NBAS,NR2F1,OPA1,
OPA3,RTN4IP1,SLC25A46,SPG7,TIMM8A, TMEM126A,YME1L1,YME1L1 |
| EXN1004 | Acromatopsia, Distrofía de Bastones y
Conos |
ABCA4,ADAM9,AIPL1,ATF6,C21orf2,C8orf37,CABP4,
CACNA1F,CACNA2D4,CDHR1,CEP290,CERKL, CNGA3,CNGB3,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 , |
| EXN1048 | Amaurosis Congénita de Leber | AIPL1,CABP4,CEP290,CNGA3,CRB1,CRX,GDF6,GUCY2D,
IMPDH1,IQCB1,KCNJ13,LCA5,LRAT,NMNAT1,NMNAT1, OTX2,PRPH2,RD3,RDH12,RPE65,RPGRIP1,SPATA7,TULP1 |
| EXN1049 | Anoftalmias, Microftalmias y
disgenesias del Segmento Anterior |
B3GALTL,BCOR,BMP4,COL4A1,CYP1B1,FOXC1,FOXE3,
FRAS1,FREM1,FREM2,GRIP1,HCCS,MFRP,NDP,NDP, OTX2,PAX6,PITX2,PITX3,SMOC1,SOX2,STRA6,VAX1,VSX2 , |
| EXN1072 | Distrofia Endotelial de Córnea | COL8A2,LOXHD1,SLC4A11,ZEB1 |
| EXN1083 | Degeneración macular | ABCA4,APOE,ARMS2,BEST1,C1QTNF5,C2,C3,C9,CDH3,
CFB,CFH,CFHR1,CFHR3,CFI,CFI,CHST6,CNGB3,CST3, CTNNA1,CX3CR1,DRAM2,ELOVL4,ERCC6,FBLN5, FSCN2,HMCN1,HTRA1,IMPG1,IMPG2,MFSD8,PROM1, PRPH2,RAX2,RP1L1,RPGR,TIMP3,TLR3,TLR4 |
| EXN1084 | Vitreorretinopatía | BEST1,CAPN5,COL2A1,FZD4,KCNJ13,LRP5,NDP,
TSPAN12,VCAN,ZNF408 |
| EXN1085 | Cataratas congénitas | AGK,BFSP1,BFSP2,CHMP4B,CRYAA,CRYAB,CRYBA1,
CRYBA2,CRYBA4,CRYBB1,CRYBB2,CRYBB3,CRYGB, CRYGC,CRYGC,CRYGD,CRYGS,CTDP1,EPHA2,EYA1, FOXE3,FTL,FYCO1,GALK1,GALT,GCNT2,GJA3,GJA8, HSF4,LEPREL1,LIM2,LSS,MAF,MIP,NHS,PAX6,PITX3, PXDN,SIL1,SLC16A12,SLC33A1,SLC33A1,TDRD7,UNC45B,VIM,WFS1 |
| EXN1087 | Glaucoma | ACVR1,ASB10,BEST1,CANT1,COL18A1,CYP1B1,FOXC1,
ISPD,LMX1B,LOXL1,LTBP2,MFRP,MYOC,NTF4,NTF4, OPTN,PAX6,PITX2,PITX3,POMT1,RPS19,RRM2B,SBF2, SH3PXD2B,SLC4A4,TTR,WDR36 |
| EXN1140 | Neuro-Oftalmología | APTX,ACO2,AFG3L2,C10orf2,C12orf65,FRMD7,GPR143,
HESX1,MFN2,NBAS,NDUFS1,NR2F1,OPA1,OPA3,OPA3, OTX2,PAX6,POLG,ROBO3,RRM2B,RTN4IP1,SALL4,SETX, SLC25A4,SLC25A46,SOX2,SPG7,TIMM8A,TK2,TMEM126A, TUBB3,TYMP,WFS1,YME1L1 , |
| EXN1021 | Síndrome de Joubert | AHI1,ARL13B,ARMC9,B9D2,C2CD3,C5orf42,CC2D2A,
CEP104,CEP120,CEP164,CEP290,CEP41,CSPP1,EXOC8, EXOC8,IFT172,INPP5E,KIAA0556,KIAA0586,KIAA0753, KIF7,MKS1,NPHP1,NPHP3,OFD1,PDE6D,POC1B,RPGRIP1L, TCTN1,TCTN2,TCTN3,TMEM107,TMEM138,TMEM216, TMEM231,TMEM237,TMEM67,TTC21B,ZNF423 |
| EXN1035 | Síndrome de Usher | ABHD12,CDH23,CIB2,CLRN1,COL4A6,DFNB31,GIPC3,
GPR98,HARS,KARS,LHFPL5,LOXHD1,MYO7A,PCDH15, PCDH15,PDZD7,TNC,USH1C,USH1G,USH2A |
Diseños ExoNIM
Neurología
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1100 | Enfermedades por trastorno del metabolismo
del glucógeno |
AGL,ALDOA,ENO3,EPM2A,FBP1,FBP2,
G6PC,GAA,GBE1,GYG1,GYG2,GYS1,GYS2 ,LAMP2,LAMP2,LDHA,NHLRC1,PFKL, PFKM,PGAM2,PGK1,PGM1,PHKA1,PHKA2, PHKB,PHKG1,PHKG2,PRKAG2,PYGL, PYGM,SLC2A2,SLC37A4 |
| EXN1073 | Neuroacantocitosis, Enfermedad de Wilson y
Enfermedad por depósitos de hierro |
ATN1,ATP13A2,ATP7B,C19orf12,COASY,
CP,DCAF17,FA2H,FTL,FUCA1,HPRT1, KIF1A,PANK2,PLA2G6,PLA2G6,SQSTM1, TAF1,TRIM32,VPS13A,WDR45,XK |
| EXN1092 | Hemiplejia alternante de la infancia | ATP1A2,ATP1A3,CACNA1A,SLC1A3,SLC2A1 |
| EXN1140 | Neuro-Oftalmología | APTX,ACO2,AFG3L2,C10orf2,C12orf65,
FRMD7,GPR143,HESX1,MFN2,NBAS, NDUFS1,NR2F1,OPA1,OPA3,OPA3,OTX2, PAX6,POLG,ROBO3,RRM2B,RTN4IP1, SALL4,SETX,SLC25A4,SLC25A46,SOX2, SPG7,TIMM8A,TK2,TMEM126A,TUBB3, TYMP,WFS1,YME1L1 , |
| EXN1021 | Síndrome de Joubert | AHI1,ARL13B,ARMC9,B9D2,C2CD3,C5orf42,
CC2D2A,CEP104,CEP120,CEP164,CEP290, CEP41,CSPP1,EXOC8,EXOC8,IFT172,INPP5E, KIAA0556,KIAA0586,KIAA0753,KIF7,MKS1, NPHP1,NPHP3,OFD1,PDE6D,POC1B,RPGRIP1L, TCTN1,TCTN2,TCTN3,TMEM107,TMEM138, TMEM216,TMEM231,TMEM237,TMEM67,TTC21B, ZNF423 |
| EXN1032 | Angioma Cavernoso Familiar | CCM2,KRIT1,PDCD10 |
| EXN1096 | Migraña hemipléjica familiar | ATP1A2,CACNA1A,PRRT2,SCN1A |
| EXN1011 | Neuropatia Distal Hereditaria | ATP7A,BSCL2,DCTN1,DNAJB2,FIG4,GAN,GARS,
HINT1,HSPB1,HSPB3,HSPB8,IGHMBP2, MEGF10,PLEKHG5,PLEKHG5,REEP2,SETX, SLC5A7,TRPV4 |
| EXN1105 | Síndrome de Hipoventilación Central Congénita | ASCL1,BDNF,CHAT,CHRNA1,CHRNB1,CHRND,
CHRNE,COLQ,EDN3,GDNF,GLRA1,MECP2, PHOX2B,RAPSN,RAPSN,RET,SCN4A,SLC6A5,ZEB2 |
| EXN1117 | Ictus-Hemiplejia | ACTA2,ATP1A2,ATP1A3,CACNA1A,COL4A1,COL4A2,
GLA,HTRA1,ITM2B,NOTCH3,OTC,POLG,SCN1A, SLC2A1,SLC2A1,TREX1 |
| EXN1137 | Neuropatia sensitivo y autonómica | DNMT1,SCN9A,ATL1,ATL3,CCT5,DST,FAM134B,
IKBKAP,KIF1A,NGF,NTRK1,PRDM12,SCN11A, SPTLC1,SPTLC1,SPTLC2,WNK1 |
| EXN1147 | Hipertermia Maligna | CACNA1S,RYR1,STAC3 |
| EXN1002 | Ataxia espinocerebelosa | AFG3L2,CACNA1A,CCDC88C,DNMT1,EEF2,
ELOVL4,FGF14,IFRD1,ITPR1,KCNC3,KCND3, PDYN,PLEKHG4,PRKCG,PRKCG,SPTBN2,TGM6, TTBK2,VAMP1 |
| EXN1020 | Canalopatías Neuromusculares | AGRN,ATP2A1,CACNA1A,CACNA1S,CHRNA1,
CHRNA2,CHRNA4,CHRNB1,CHRNB2,CHRND, CHRNE,CLCN1,COL6A3,DMPK,DMPK,GAA,GBE1, KCNJ18,KCNJ2,KCNT1,PNKP,RYR1,SCN1A,SCN1B, SCN4A,SCN8A,SLC25A22,SLC35A2,SPTAN1,ST3GAL3 |
| EXN1025 | Paraplejia Espástica Hereditaria | ALDH18A1,AMPD2,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,
ARL6IP1,ATL1,ATP13A2,B4GALNT1,BSCL2,C12orf65, C19orf12,C19orf12,CAPN1,CCT5,CPT1C,CYP2U1, CYP7B1,DDHD1,DDHD2,ENTPD1,ERLIN1,ERLIN2, FA2H,GALC,GBA2,GJC2,HSPD1,IBA57,KIAA0196, KIF1A,KIF5A,L1CAM,MAG,NIPA1,NT5C2,PLP1,PNPLA6, REEP1,REEP1,REEP2,RTN2,SLC16A2,SLC33A1,SPAST, SPG11,SPG20,SPG21,SPG7,TECPR2TFG,USP8,VPS37A, ZFYVE26,ZFYVE27 |
| EXN1026 | Leucodistrofias | ABCD1,ACOX1,ADGRG1,AIMP1,ARSA,ASPA,C19orf12,
CSF1R,CTC1,DARS,DARS2,EIF2B1,EIF2B2,EIF2B3, EIF2B3,EIF2B4,EIF2B5,ERCC2,ERCC3,ERCC6, ERCC8,FA2H,FAM126A,FUCA1,GALC,GFAP,GJA1, GJC2,GTF2H5,HEPACAM,HSPD1,IFIH1,L1CAM, L2HGDH,LMNB1,MLC1,MPLKIP,PANK2,PEX1, PEX10,PLA2G6,PLA2G6,PLP1,POLR3A,POLR3B, PSAP,RANBP2,RARS,RNASEH2A,RNASEH2B, RNASEH2C,SAMHD1SLC16A2,SLC17A5,SNAP29, SOX10,TREX1,TUBB4A,VPS11 |
| EXN1027 | Alzheimer de inicio precoz | APP,PSEN1,PSEN2,SQSTM1 |
| EXN1003 | Charcot-Marie Tooth y neuropatías
hereditarias sensitivo-motoras relacionadas |
AARS,AIFM1,ARHGEF10,ATL1,ATL3,ATP7A,BAG3,
BSCL2,C12orf65,CCT5,COX6A1,CTDP1,DCTN1, DHTKD1,DHTKD1,DNAJB2,DNM2,DNMT1,DRP2, DYNC1H1,EGR2,FAM134B,FBLN5,FGD4,FIG4,GAN, GARS,GDAP1,GJB1,GNB4,HARS,HINT1,HK1,HOXD10, HSPB1,HSPB8,IGHMBP2,INF2,KARS,KIF1A,KIF1B, KIF1B,KIF5A,LITAF,LMNA,LRSAM1,MARS,MED25, MFN2,MME,MORC2,MPZMTMR2,NDRG1,NEFL, NGF,PDK3,PLEKHG5,PMP22,PRPS1,PRX,RAB7A, SBF1,SBF2,SH3TC2,SLC25A46,SPG11,SPTLC1, SPTLC2,SURF1,TFG,TRIM2,TRPV4,VCP,WNK1,YARS |
| EXN1028 | Miopatía por desproporción de fibras y
Síndrome de Shprintzen-Goldberg |
ACAD9,ACADM,ACADVL,AGL,ALDOA,AMPD1,
ANO5,ATP2A1,C10orf2,CASQ1,CPT2,ETFA,ETFB, ETFDH,ETFDH,GAA,GYG1,GYS1,HADHA,HADHB, LDHA,LPIN1,OPA1,PFKM,PGAM2,PGM1,PHKA1, PYGM,RBCK1,RYR1,SLC22A5,SUCLA2,TK2 |
| EXN1029 | Miopatia congénita de núcleos centrales | B3GALNT2,B3GNT1,CHKB,COL12A1,COL6A1,
COL6A2,COL6A3,DAG1,DMD,DPM1,DPM2,DPM3, FKRP,FKTN,FKTN,GMPPB,INPP5K,ISPD,ITGA7, LAMA2,LARGE,LMNA,POMGNT1,POMGNT2, POMK,POMT1,POMT2,TMEM5 |
| EXN1030 | Charcot-Marie Tooth tipo 2 | AARS,DHTKD1,DNM2,GARS,GDAP1,GJB1,HARS,
HINT1,HSPB1,HSPB8,KIF5A,LRSAM1,MARS, MED25,MED25,MFN2,MPZ,NEFL,PDK3,PRPS1, RAB7A,TFG,TRIM2,TRPV4 |
| EXN1033 | Ataxias | ABHD12,ADCK3,GPR56,AFG3L2,ALDH5A1,ANO10,
APTX,ATCAY,ATM,ATN1,ATP8A2,ATXN1,ATXN10, ATXN2,ATXN2,ATXN3,ATXN7,BEAN1,C10orf2,CA8, CACNA1A,CACNB4,CAMTA1,CC2D2A,CCDC88C, CLCN2,CLN5,COQ2,COQ9,COX20,CP,CWF19L1,CYP27A1, DARS2,DNAJC19,DNMT1,EEF2,EIF2B1,EIF2B2,EIF2B3, EIF2B4,EIF2B4,EIF2B5,ELOVL4,ELOVL5,EXOSC3,FGF14, FLVCR1,FMR1,FXN,GBA2,GRID2GRM1,GSS,IFRD1, IFT140,ITPR1,KCNA1,KCNC3,KCNJ10,KIF1C,MARS2, MECP2,MRE11A,MTPAP,MTTP,NOP56,OPA1,PAX6, PC,PCNA,PDHA1,PDYN,PEX7,PIK3R5,PLEKHG4, PNKP,PNPLA6,POLG,PPP2R2B,PRKCG,PRNP,PRPS1, RNF170,RPGRIP1L,KIAA0226,SACS,SCN8A,SETX,SIL1, SLC1A3,SLC2A1,SLC52A2,SLC9A6,SNX14,SPG7, SPTBN2,STUB1,SYNE1,SYT14,TBP,TDP1,TGM6, TMEM67,TPP1,TTBK2,TTPA,TUBB4A,VAMP1, VLDLR,WDR81,WFS1,WWOX,ZNF592 , |
| EXN1036 | Distrofia Muscular de Cinturas (LGMD) | ANO5,BVES,CAPN3,CAV3,DAG1,DES,DNAJB6,
DYSF,FKRP,FKTN,FLNC,GAA,GMPPB,HNRNPDL, HNRNPDL,ISPD,LIMS2,LMNA,MYOT,PLEC,PNPLA2, POGLUT1,POMGNT1,POMT1,POMT2,SGCA,SGCB, SGCD,SGCG,SMCHD1,TCAP,TNPO3,TOR1AIP1, TRAPPC11,TRIM32,TTN , |
| EXN1043 | Esclerosis Lateral Amiotrófica y
síndromes incluidos en el diagnóstico diferencial |
ALS2,ANG,AR,BSCL2,C9orf72,CHMP2B,DCTN1,
ERBB4,FIG4,FUS,GBE1,HNRNPA1,MATR3,OPTN, OPTN,PFN1,SETX,SIGMAR1,SOD1,SPG20,TARDBP, UBQLN2,VAPB,VCP , |
| EXN1045 | Miopatías | ACAD9,ACADM,ACADVL,ACTA1,AGL,AGRN,ALDOA,
AMPD1,ANO5,B3GALNT2,B3GNT1,B3GNT2,BIN1, BVES,BVES,C10orf2,CACNA1S,CAPN3,CASQ1,CAV3, CCDC78,CFL2,CHKB,CHRNA1,CHRNB1,CHRND, CHRNE,CNTN1,COL12A1,COL6A1,COL6A2,CPT2, DAG1,DES,DMD,DNAJB6,DNM2,DPM1,DPM2,DPM3, DYSF,DYSF,EMD,ETFA,ETFB,ETFDH,FHL1,FKBP14, FKRP,FKTN,FLNC,GAAGBE1,GMPPB,GYG1,GYS1, PTPLA,HADHA,HADHB,HNRNPDL,HRAS,INPP5K, ISPD,ITGA7,KBTBD13,KCNJ18,KCNJ2,KLHL40, KLHL41,LAMA2,LARGE,LDHA,LIMS2,LMNA, LMOD3,LPIN1,MEGF10,MTM1,MYF6,MYH7,MYOT, MYPN,NEB,OPA1,PFKM,PGAM2,PGM1,PHKA1, PLEC,PNPLA2,POGLUT1,POMGNT1,POMGNT2, POMK,POMT1,POMT2,PYGM,RBCK1,RYR1,SCN4A, SEPN1,SGCA,SGCB,SGCD,SGCG,SKI,SLC22A5, SLC35A2,SMCHD1,STAC3,SUCLA2,TCAP,TK2, TMEM5,TNNT1,TNPO3,TOR1AIP1,TPM2,TPM3, TRAPPC11,TRIM32,TTN , |
| EXN1052 | Distonías | ANO3,ATP1A3,CACNA1B,CIZ1,COL6A3,DRD2,
DRD5,GCH1,GNAL,HPCA,KCTD17,MR1,PANK2, PARK2,PARK2,PLA2G6,PNKD,PRKRA,PRRT2, SCP2,SGCE,SLC2A1,SLC30A10,SLC6A3,SPR,TAF1, TH,THAP1,TOR1A,TUBB4A , |
| EXN1053 | Parkinson | ATP13A2,DNAJC6,EIF4G1,FBXO7,GBA,HTRA2,
LRRK2,MAPT,PARK2,PARK7,PINK1,PLA2G6, POLG,SLC6A3,SLC6A3,SNCA,SYNJ1,UCHL1,VPS35 , |
| EXN1056 | Distrofias musculares | ANO5,BVES,CAPN3,CAV3,COL12A1,COL6A1,
COL6A2,COL6A3,DAG1,DES,DMD,DNAJB6, DYSF,EMD,EMD,FHL1,FKRP,FKTN,FLNC,GAA, GMPPB,HNRNPDL,ISPD,LIMS2,LMNA,MYOT, PLEC,PNPLA2,POGLUT1,POMGNT1,POMT1, POMT2,SGCA,SGCB,SGCD,SGCG,SMCHD1,TCAP, TNPO3,TOR1AIP1,TRAPPC11,TRAPPC11,TRIM32,TTN |
| EXN1057 | Enfermedad de Fahr | PDGFB,PDGFRB,SLC20A2,XPR1 |
| EXN1065 | Miastenia congénita | ACTA1,BIN1,CCDC78,CFL2,CNTN1,COL12A1,
DNM2,FKBP14,HRAS,KBTBD13,KLHL40, KLHL41,LMNA,LMOD3,LMOD3,MEGF10,MTM1, MYF6,MYH7,MYPN,NEB,PTPLA,RYR1,SCN4A, SEPN1,SKI,STAC3,TNNT1,TPM2,TPM3 , |
| EXN1067 | Lipofuscinosis Cerebral | ARSG,ATP13A2,CLN3,CLN5,CLN6,CLN8,CTSD,
CTSF,DNAJC5,GRN,KCTD7,MFSD8,PPT1,TPP1,TPP1 , |
| EXN1068 | Coreoatetosis | ADCY5,HSD17B10,MR1,NKX2-1,PRRT2,SLC2A1 |
| EXN1077 | Atrofia Muscular Espinal | AARS,ASAH1,ATP7A,BICD2,BSCL2,CHCHD10,
DCTN1,DNAJB2,DYNC1H1,EXOSC3,EXOSC8, FBXO38,GARS,HEXA,HEXA,HSPB1,HSPB3, HSPB8,IGHMBP2,LAS1L,PLEKHG5,REEP1, SCO2,SLC5A7,SMN1,SMN2,TRPV4,UBA1, VAPB,VRK1 |
| EXN1086 | Demencia Frontotemporal | C9orf72,CHCHD10,CHMP2B,CSF1R,FTL,FUS,
GRN,MAPT,PRNP,PSEN1,SQSTM1,TARDBP, TBK1,TREM2,TREM2,TUBA4A,UBQLN2,VCP |
| EXN1008 | Esclerosis Tuberosa | TSC1,TSC2 |
| EXN1010 | Alteraciones mitocondriales secundarias
a mutaciones del DNA nuclear |
AARS2,ABCB7,ACAD9,ACO2,ADCK3,AFG3L2,
AGK,AIFM1,ALAS2,APTX,ATP5E,ATPAF2,AUH, BCS1L,BCS1L,BOLA3,BTD,C10orf2,C12orf65, CISD2,COA5,COQ2,COQ6,COQ9,COX10,COX14, COX15,COX20,COX6B1,DARS2,DGUOK,DLAT, DLD,DNA2,DNAJC19,DNM1L,EARS2,ECHS1,ETFA, ETFB,ETFDH,ETFDH,ETHE1,FARS2,FASTKD2, FBP1,FBXL4,FH,FOXRED1,G6PC,GFER,GFM1GFM2, GYS2,HARS2,HIBCH,HLCS,HSPD1,IARS2,ISCU,LARS, LIAS,LIPT1,LRPPRC,MARS2,MFN2,MPC1,MPV17, MRPL44,MRPS16,MRPS22,MTFMT,MTO1,MTPAP, NDUFA1,NDUFA10,NDUFA11,NDUFA12,NDUFA2, NDUFA9,NDUFAF1,NDUFAF2,NDUFAF3,NDUFAF4, NDUFAF5,NDUFAF6,NDUFAF7,NDUFB3,NDUFB9, NDUFS1,NDUFS2,NDUFS3,NDUFS4,NDUFS6, NDUFS7,NDUFS8,NDUFV1,NDUFV2,NFU1,NUBPL, OPA1,OPA3,PC,PDHA1,PDHB,PDHX,PDP1,PDSS1, PDSS2,PNPT1,POLG,POLG2,PUS1,RARS,RARS2, REEP1,RMND1,RNASEH1,RRM2B,SARS2,SCO1, SCO2,SDHAF1,SERAC1,SLC19A3,SLC25A19, SLC25A3,SLC25A4,SLC37A4,SPG7,SUCLA2,SUCLG1, SURF1,TACO1,TAZ,TIMM44,TIMM8A,TK2, TMEM126A,TMEM70,TPK1,TRMU,TSFM, TTC19,TUFM,TYMP,UQCRB,UQCRQ,WFS1,YARS2 , |
| EXN1058 | Enfermedades peroxisomales y lisosomales | ACOX1,AGA,AGPS,AGXT,AMACR,ARSA,ARSB,ASAH1,
CAT,CLN3,CLN5,CLN6,CLN8,CTNS,CTNS,CTSA, CTSC,CTSD,CTSD,CTSK,DNAJC5,DNM1L,FAR1, FUCA1,GAA,GALC,GALNS,GBA,GLA,GLB1,GM2A, GNPAT,GNPTAB,GNPTG,GNS,GUSB,HEXA,HEXB, HGSNAT,HSD17B4,HYAL1,HYAL1,IDS,IDUA,LAMP2, LIPA,LMBRD1,MAN2B1,MANBA,MCOLN1,MFSD8, NAGANAGLU,NAGPA,NEU1,NPC1,NPC2,PEX1,PEX10, PEX11B,PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26, PEX3,PEX5,PEX6,PEX7,PHYH,PPT1,PSAP,SCP2,SGSH,SLC17A5, SMPD1,SUMF1,TPP1,TRIM37 |
Diseños ExoNIM
Neumología
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1108 | Bronquiectasias | CCDC39,CCDC40,CFTR,DNAAF1,DNAAF2,DNAH11,
DNAH5,DNAI1,DNAI2,DNAL1,FBN1,NME8, RSPH1,RSPH4A,RSPH4A,RSPH9,SCNN1A, SCNN1B,SCNN1G |
| EXN1109 | Fibrosis Pulmonar Idiopática, Enfermedad
por Déficit de Surfactante Pulmonar e Infecciones Respiratorias Recurrentes |
ABCA3,CSF2RA,CSF2RB,DOCK8,ELMOD2,
HRAS,MUC5B,NKX2-1,RPGR,SFTPA1, SFTPA2,SFTPB,SFTPC,SFTPD,SFTPD, SLC7A7,STAT3,TERT |
| EXN1111 | Hipertensión pulmonar | ACVRL1,BMPR2,ENG,FOXF1,HRAS,NF1,SMAD9 |
| EXN1112 | Enfermedades Quísticas Pulmonares | EFEMP2,ELN,FBLN5,FLCN,LTBP4,NF1,
SERPINA1,TSC1,TSC2 |
| EXN1024 | Discinesia Ciliar Primaria | ARMC4,DNAAF3,C21orf59,CCDC103,CCDC114,
DRC1,CCDC39,CCDC40,CCDC65,CCNO,DNAAF1, DNAAF2,DNAH11,DNAH5,DNAH5,DNAI1, DNAI2,DNAL1,DYX1C1,HEATR2,HYDIN,LRRC6,OFD1, RPGR,RSPH1,RSPH4A,RSPH9,SPAG1,NME8,ZMYND10 |
Diseños ExoNIM
Nefrología
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1095 | Pseudohipoaldosteronismo | CUL3,HSD11B2,KLHL3,NR3C2,SCNN1A,SCNN1B,
SCNN1G,WNK1,WNK4 |
| EXN1059 | Amiloidosis | APOA1,APOA2,APP,B2M,CST3,FGA,GSN,
LYZ,TTR , |
| EXN1014 | Síndrome de Hemolítico urémico | C3,CFB,CFH,CFHR1,CFHR3,CFHR5,
CFI,DGKE,CD46,THBD |
| EXN1103 | Síndrome de Alport | COL4A3,COL4A4,COL4A5,NPHS1,
NPHS2,BSND,GATA3,MYH9 |
| EXN1119 | Síndrome nefrótico/Glomeruloesclerosis | ACTN4,ADCK4,ALDH1A2,ALG1,ALMS1,
ANKS6,ANLN,APOL1,ARHGAP24, ARHGDIA,C3,CD151,CD2AP,CD46,CD46, CEP164,CCDC41,CFB,CFH,CFHR1,CFHR3, CFI,COL4A3,COL4A4,COL4A5,COQ2,COQ6,COQ7,COQ9, CRB2,CUBN,CYP11B2,DCDC2,DGKE,E2F3,EMP2,FAM161B, FAN1,GLIS2,INF2,INVS,INVS,ITGA3,ITGB4,KANK2,LAMB2, LMX1B,MED28,MYH9,MYO1E,NEIL1,NEK8NPHP1,NPHP3, NPHP4,NPHS1,NPHS2,NUP107,NUP205,NUP93,NXF5,PAX2, PDSS2,PLCE1,PMM2,PTPRO,REN,SCARB2,SMARCAL1,THBD, TMEM67,TRPC6,TTC21B,UMOD,WDR19,WDR73,WT1,XPNPEP3, ZMPSTE24,ZNF423 |
| EXN1145 | Malformaciones renales | ACE,AGT,AGTR1,KAL1,BMP4,BMP7,CDC5L,
CHD1L,DSTYK,EYA1,FGF20,FGFR2,FOXC2, FRAS1,FRAS1,FREM1,FREM2,GATA3,GLI3, GRIP1,HNF1B,HOXA13,HOXA4,HOXB6, HPSE2,ITGA8,LRP4,MUC1,MYH9,NIPBL, PAX2,REN,RET,ROBO2,SALL1,SIX1,SIX2, SIX5,SOX17,TNXB,TRAP1,TRAP1,UMOD, UPK3A,WNT4,WT1 |
| EXN1076 | Síndrome de Bartter y patologías asociadas
a trastornos hidroelectrolíticos |
ATP6V1B1,BSND,CA2,CASR,CLCNKA,
CLCNKB,CLDN16,CLDN19,FXYD2,HSD11B2, KCNJ1,KCNJ10,KLHL3,NR3C2,NR3C2, SCNN1A,SCNN1B,SCNN1G,SLC12A1, SLC12A2,SLC12A3,SLC12A5,SLC12A7,SLC4A1,SLC4A4, SLC4A5,WNK1,WNK4 |
| EXN1113 | Hipercalcemia | ALPL,AP2S1,CASR,CDC73,CDKN1C,CYP24A1,GNA11,MEN1,PTH1R |
Diseños ExoNIM
Mitocondriales, peroxisomales y lisosomales
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1010 | Alteraciones mitocondriales secundarias
a mutaciones del DNA nuclear |
AARS2,ABCB7,ACAD9,ACO2,ADCK3,AFG3L2,
AGK,AIFM1,ALAS2,APTX,ATP5E,ATPAF2, AUH,BCS1L,BCS1L,BOLA3,BTD,C10orf2, C12orf65,CISD2,COA5,COQ2,COQ6,COQ9, COX10,COX14,COX15,COX20,COX6B1,DARS2, DGUOK,DLAT,DLD,DNA2,DNAJC19,DNM1L, EARS2,ECHS1,ETFA,ETFB,ETFDH,ETFDH, ETHE1,FARS2,FASTKD2,FBP1,FBXL4,FH, FOXRED1,G6PC,GFER,GFM1GFM2,GYS2, HARS2,HIBCH,HLCS,HSPD1,IARS2,ISCU, LARS,LIAS,LIPT1,LRPPRC,MARS2,MFN2, MPC1,MPV17,MRPL44,MRPS16,MRPS22, MTFMT,MTO1,MTPAP,NDUFA1,NDUFA10, NDUFA11,NDUFA12,NDUFA2,NDUFA9,NDUFAF1, NDUFAF2,NDUFAF3,NDUFAF4,NDUFAF5, NDUFAF6,NDUFAF7,NDUFB3,NDUFB9,NDUFS1, NDUFS2,NDUFS3,NDUFS4,NDUFS6,NDUFS7, NDUFS8,NDUFV1,NDUFV2,NFU1,NUBPL,OPA1, OPA3,PC,PDHA1,PDHB,PDHX,PDP1,PDSS1,PDSS2, PNPT1,POLG,POLG2,PUS1,RARS,RARS2,REEP1, RMND1,RNASEH1,RRM2B,SARS2,SCO1,SCO2, SDHAF1,SERAC1,SLC19A3,SLC25A19,SLC25A3, SLC25A4,SLC37A4,SPG7,SUCLA2,SUCLG1,SURF1, TACO1,TAZ,TIMM44,TIMM8A,TK2,TMEM126A, TMEM70,TPK1,TRMU,TSFM,TTC19,TUFM, TYMP,UQCRB,UQCRQ,WFS1,YARS2 , |
| EXN1058 | Enfermedades peroxisomales y lisosomales | ACOX1,AGA,AGPS,AGXT,AMACR,ARSA,
ARSB,ASAH1,CAT,CLN3,CLN5,CLN6,CLN8, CTNS,CTNS,CTSA,CTSC,CTSD,CTSD,CTSK, DNAJC5,DNM1L,FAR1,FUCA1,GAA,GALC,GALNS, GBA,GLA,GLB1,GM2A,GNPAT,GNPTAB,GNPTG, GNS,GUSB,HEXA,HEXB,HGSNAT,HSD17B4,HYAL1, HYAL1,IDS,IDUA,LAMP2,LIPA,LMBRD1, MAN2B1,MANBA,MCOLN1,MFSD8,NAGANAGLU, NAGPA,NEU1,NPC1,NPC2,PEX1,PEX10,PEX11B, PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26, PEX3,PEX5,PEX6,PEX7,PHYH,PPT1,PSAP,SCP2, SGSH,SLC17A5,SMPD1,SUMF1,TPP1,TRIM37 |
Diseños ExoNIM
Inmunología
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1128 | Enfermedad inflamatoria intestinal | ADAM17,AICDA,ATG16L1,BTK,C1orf106,CD40LG,
COL7A1,CYBA,CYBB,DCLRE1C,DOCK8, ERAP2,FERMT1,FOXP3,FOXP3,FUT2, G6PC3,GUCY2C,HPS1,HPS4,HPS6,ICOS, IL10,IL10RA,IL18RAP,IL23R,IL2RA,IRGM, ITGAM,LRBA,MEFV,MVK,NCF1,NCF2, NCF4,NOD2,PIK3R1,PLCG2,PTEN, PTPN22,RAC2,RAC2,RB1,RET,SH2D1A, SLC37A4,STAT1,STXBP2,TTC37,WAS,XIAP |
| EXN1114 | Inmunodeficiencias | ACP5,ACTB,ADA,ADAR,AICDA,AIRE,AK2,
AKT1,AP3B1,APOL1,ATM,BCL10,BLM,BLNK, BLNK,BLOC1S6,BTK,C1QA,C1QB,C1QC,C1R, C1S,C2,C3,C4BPA,C4BPB,C5,C6,C7,C8A,C8B, C8G,C9,CARD11,CARD14,CARD9,CASP10, CASP8,CD19,CD247,CD27,CD27,CD3D,CD3E, CD3G,CD4,CD40,CD40LG,CD55,CD59,CD79A, CD79BCD81,CD86,CD8A,CEBPE,CECR1,CFB, CFD,CFH,CFI,CFP,CHD7,CIITA,CLNK,CNTRL, COMT,CORO1A,CR2,CSF3R,CTLA4,CTSC, CXCL12,CXCR4,CYBA,CYBB,DCBLD2,DCLRE1C, DKC1,DNMT3B,DOCK8,ELANE,FADD,FAS,FASLG, FERMT3,FHL1,FOXN1,FOXP3,FPR1,G6PC3,G6PD, GATA2,GFI1,HAX1,HCLS1,ICOS,IFNGR1,IFNGR2, IGLL1,IKBKB,IKBKG,IKZF1,IL10,IL10RA,IL10RB, IL12B,IL12RB1,IL17A,IL17F,IL17RA,IL1RN,IL21, IL21R,IL2RA,IL2RG,IL36RN,IL7R,IRAK4,IRF4, IRF8,ISG15,ITCH,ITGB2,ITK,JAK3,LAMTOR2, LCK,LIG1,LIG4,LPIN2,LRBA,LRRC8A,LYST, MAGT1,MALT1,MASP2,MBL2,MCM4,MEFV,MLH1, MPO,MRE11A,MS4A1,MSH5,MTHFD1,MVK,MYD88, MYH9,MYO5A,NAALAD2,NBN,NCF1,NCF2,NCF4, NCSTN,NFKB1,NFKB2,NFKBIA,NHEJ1,NHP2, NLRC4,NLRP12,NLRP3,NLRP7,NOD2,NOP10, NRAS,ORAI1,ORC4,PDCD1,PGM3,PICALM, PIK3CD,PIK3R1,PLCG2,PML,PMS2,PNP,POLE,PRF1, PRKCD,PRKDC,PSENEN,PSMB8,PSTPIP1,PTPRC, RAB27A,RAC2,RAD50,RAG1,RAG2,RBCK1,RFX5, RFXANK,RFXAP,RHOH,RNASEH2A,RNASEH2B, RNASEH2C,RNF168,RPSA,RTEL1,SAMHD1,SBDS, SEMA3E,SERPING1,SH2D1A,SH3BP2,SLC29A3, SLC35C1,SLC37A4,SLC46A1,SLC7A7,SMARCAL1, SP110,SPINK5,STAT1,STAT2,STAT3,STAT5B,STIM1, STK11,STK4,STX11,STXBP2,TAP1,TAP2,TAPBP, TAZ,TBK1,TBX1,TCF3,TCF7L1,TCN2,TERT,TFRC, TGFB1,TGFB2,TGFB3,TICAM1,TIMM8A,TINF2, TLR3,TMC6,TMC8,TMEM173,TNFRSF11A, TNFRSF13B,TNFRSF13C,TNFRSF1A,TNFRSF4, TNFRSF6B,TNFSF10,TNFSF12,TNFSF13, TNFSF13B TRAF3,TRAF3IP2,TREX1,TTC7A, TYK2,UNC119,UNC13D,UNC93B1,UNG,USB1, VPS13B,WAS,WIPF1,XIAP,XRCC4,ZAP70,ZBTB24, |
| EXN1115 | Síndromes autoinflamatorios | AP3B1,BLOC1S6,CARD14,CD27,CECR1,ELANE,
IL10,IL10RA,IL10RB,IL1RN,IL36RN,ITK,LPIN2, LYST,LYST,MEFV,MVK,NCSTN,NLRC4,NLRP12, NLRP3,NLRP7,NOD2,PLCG2,PRF1,PSENEN,PSMB8, PSTPIP1,RAB27A,SH2D1A,SH3BP2,SLC29A3,SLC7A7, STX11,STXBP2,TMEM173,TNFRSF11A,TNFRSF1A, UNC13D,XIAP |
| EXN1047 | Síndrome de Hiperinmunoglobulinemia E | DOCK8,DSG1,SPINK5,STAT3,TYK2 , |
| EXN1075 | Fiebre recurrente | ELANE,LPIN2,MEFV,MVK,NLRP3,NOD2,PSTPIP1,
TNFRSF1A |
Diseños ExoNIM
Gastroenterología
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1146 | Porfiria | ALAD,ALAS2,CPOX,FECH,HFE,HMBS,PPOX,
UROD,UROS |
| EXN1128 | Enfermedad inflamatoria intestinal | ADAM17,AICDA,ATG16L1,BTK,C1orf106,
CD40LG,COL7A1,CYBA,CYBB,DCLRE1C, DOCK8,ERAP2,FERMT1,FOXP3,FOXP3, FUT2,G6PC3,GUCY2C,HPS1,HPS4,HPS6, ICOS,IL10,IL10RA,IL18RAP,IL23R,IL2RA, IRGM,ITGAM,LRBA,MEFV,MVK,NCF1,NCF2, NCF4,NOD2,PIK3R1,PLCG2,PTEN,PTPN22,RAC2, RAC2,RB1,RET,SH2D1A,SLC37A4,STAT1,STXBP2, TTC37,WAS,XIAP |
| EXN1104 | Colestasis intrahepática | ABCB11,ABCB4,ATP8B1,UGT1A1 |
| EXN1017 | Trico-Hepato-Entérico | SKIV2L2,TTC37 |
| EXN1042 | Pancreatitis Crónica | CASR,CFTR,CPA1,CTRC,SPINK1 , |
| EXN1046 | Enfermedad de Hirschsprung | ASCL1,BDNF,ECE1,EDN3,EDNRB,GDNF,
KIAA1279,NRG1,NRTN,PHOX2B,RET,SOX10,ZEB2 , |
| EXN1080 | Diarrea congénita o crónica de inicio precoz | DGAT1,EPCAM,GUCY2C,MYO5B,NEUROG3,
SLC26A3,SPINT2 |
| EXN1059 | Amiloidosis | APOA1,APOA2,APP,B2M,CST3,FGA,GSN,LYZ,TTR , |
Diseños ExoNIM
Hematología
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1120 | Síndromes hereditarios con fallo de médula ósea | BRCA2,BRIP1,CSF3R,CTC1,DKC1,ELANE,ERCC4,
FANCA,FANCB,FANCC,FANCD2,FANCE, FANCF,FANCG,FANCG,FANCI,FANCL, FANCM,G6PC3,GATA2,GFI1,HAX1,MPL, NHP2,NOP10,PALB2,RAD51C,RBM8A,RPL11, RPL35A,RPL5,RPS10,RPS19,RPS24,RPS26, RPS7,RTEL1,RUNX1,SBDS,SBF2,SLX4,SLX4, SRP72,TERT,TINF2,USB1,VPS45,WAS,WRAP53, XRCC2 |
| EXN1141 | Anemia hemolítica hereditaria | ABCB6,ABCG5,ABCG8,ADA,AK1,ALDOA,ANK1,
BPGM,CYB5R3,EPB41,EPB42,G6PD,GCLC,GPI, GPI,GPX1,GSR,GSS,GYPC,HK1,KCNN4,NT5C3A, PFKL,PFKM,PGK1,PIEZO1,PKLR,RHAG,SLC2A1, SLC4A1,SPTA1,SPTB,TPI1,UGT1A1 |
| EXN1149 | Predisposición a patologías mieloides | ACD,ANKRD26,CEBPA,DDX41,ETV6,GATA2,
RTEL1,RUNX1,SAMD9,SAMD9L,SRP72,TERC, TERT,TINF2,TINF2,TP53 |
| EXN1150 | Diátesis hemorrágicas | ABCG5,ABCG8,ACTN1,ADAMTS13,ANKRD26,
ANO6,AP3B1,BLOC1S3,CD36,CYCS,DTNBP1, F10,F11,F12,F12,F13A1,F13B,F2,F5,F7,F8,F9,FERMT3, FGA,FGB,FGG,FLI1,FLNA,GATA1,GFI1B,GGCX, GP1BA,GP1BB,GP6,GP9,HOXA11,HPS1,HPS3, HPS4,HPS5,HPS6,HPS6,HRG,ITGA2,ITGA2B,ITGB3, KLKB1,LMAN1,MASTL,MCFD2,MPL,MYH9NBEAL2, P2RX1,P2RY12,PLAU,PLG,PRKACG,RUNX1,SERPINE1, SERPINF2,SLFN14,STIM1,TBXA2R,TBXAS1,TUBB1, VKORC1,VWF,WAS,WIPF1 |
| EXN1039 | Neutropenia congénita sindrómica
y no sindrómica |
AK2,AP3B1,CSF3R,CXCR4,ELANE,G6PC3,GATA1,
GATA2,GFI1,HAX1,JAGN1,LAMTOR2,LYST, RAB27A,RAB27A,RAC2,SBDS,SLC37A4, TAZ,VPS13B,VPS45,WAS,WIPF1 |
| EXN1040 | Eritorblastopenia congénita de Blackfan-Diamond | GATA1,RPL11,RPL15,RPL19,RPL26,RPL35A,
RPL5,RPS10,RPS15A,RPS17,RPS19,RPS24,RPS26,RPS29, RPS29,RPS7 |
| EXN1014 | Síndrome de Hemolítico urémico | C3,CFB,CFH,CFHR1,CFHR3,CFHR5,CFI,DGKE,CD46,THBD |
| EXN1146 | Porfiria | ALAD,ALAS2,CPOX,FECH,HFE,HMBS,PPOX,UROD,UROS |
Diseños ExoNIM
Endocrinología
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1113 | Hipercalcemia | ALPL,AP2S1,CASR,CDC73,CDKN1C,CYP24A1,
GNA11,MEN1,PTH1R |
| EXN1118 | Lipodistrofias | AGPAT2,AKT2,BSCL2,CAV1,CIDEC,FBN1,
KCNJ6,LIPE,LMNA,LMNB2,PIK3R1,PLIN1, POLD1,PPARG,PPARG,PTRF,TBC1D4,ZMPSTE24 |
| EXN1139 | Obesidad Monogénica | MAGEL2,ADRB3,AGRP,ALMS1,ARL6,BBS1,
BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9, BDNF,BDNF,CEP290,CRTC1,CUL4B,DYRK1B, GNAS,GRIK1,GRPR,LEP,LEPR,MC3R,MC4R, MKKS,MKS1,NPY,NPY1R,NR0B2,NTRK2,PCSK1, PCSK2,PHF6,POMC,PPARG,SDCCAG8,SIM1, SLCO4C1,TRIM32,TRIM32,TTC8,UCP3,VPS13B, WDPCP |
| EXN1069 | Déficit combinado de Hormonas Hipofisiarias e Hipotiroidismo |
DUOX2,DUOXA2,FOXE1,GLIS3,GNAS,HESX1,
IGSF1,IYD,LHX3,LHX4,NKX2-1,NKX2-5,NTRK1,OTX2,OTX2,PAX8,PAX9,POU1F1, PROP1,RET,SECISBP2,SLC16A2,SLC26A4, SLC5A5,SOX3,TG,THRA,THRB,TPO,TRH, TRHR,TSHB,TSHR,TTF1,TTF2,UBR1 , |
| EXN1081 | Diabetes | ABCC8,APPL1,BLK,CEL,EIF2AK3,FOXP3,
GATA4,GATA6,GCK,GLIS3,GLUD1,HADH, HNF1A,HNF1B,HNF1B,HNF4A,IER3IP1,INS,KCNJ11, KLF11,MNX1,NEUROD1,NEUROG3,NKX2-2,PAX4,PDX1,PTF1A,RFX6,SLC19A2,SLC2A2, UCP2,ZFP57 |
| EXN1089 | Hipercolesterolemia familiar | ABCA1,APOA2,APOB,EPHX2,GHR,ITIH4,LDLR,
LDLRAP1,PCSK9,PPP1R17 |
| EXN1095 | Pseudohipoaldosteronismo | CUL3,HSD11B2,KLHL3,NR3C2,SCNN1A,
SCNN1B,SCNN1G,WNK1,WNK4 |
Diseños ExoNIM
Desarrollo sexual/Genética reproductiva
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1122 | Fallo ovárico precoz | BMP15,CYP17A1,CYP19A1,DIAPH2,EIF2B2,EIF2B3,
EIF2B5,FIGLA,FMR1,FOXL2,FSHR,GALT,GDF9, HFM1,HFM1,LHCGR,LMNA,NOBOX,NR5A1, POF1B,POR,PSMC3IP |
| EXN1126 | Trastornos del Desarrollo Sexual | AKR1C2,AMH,AMHR2,KAL1,AR,ARX,ATRX,B3GALTL,
BCOR,BMP4,CDKN1C,CEP41,CHD7,CREBBP,CREBBP, CYB5A,CYP11A1,CYP11B1,CYP17A1,CYP19A1,CYP21A2, DHCR24,DHCR7,DHH,DNMT3B,DYNC2H1,ESCO2, FAM58A,FAT4,FEZF1,FIG4,FRAS1,FREM2,GATA4, GNRHR,GRIP1,HCCS,HOXA13,HSD17B3,HSD3B2, ICK,ICK,IL17RD,IRF6,KISS1R,LHCGR,LMNA,MAP3K1, MKKS,MKS1,NEK1,NR0B1NR5A1,NSMF,OPHN1,POR, PRKAR1A,PROKR2,PTPN11,RIPK4,ROR2,RSPO1,SALL1, SCARF2,SEMA3A,SETBP1,SOX9,SPECC1L,SRD5A2,SRY, STAR,TACR3,TBX15,TCTN3,TSPYL1,UBR1,WDR60, WNT4,WNT7A,WT1,ZFPM2 |
| EXN1130 | Hipogonadismo gonadotrópico | KAL1,CHD7,DUSP6,FEZF1,FGF17,FGF8,FGFR1,FLRT3,
FSHB,GNRH1,GNRHR,HESX1,HS6ST1,IL17RD, IL17RD,KISS1,KISS1R,LHB,LHX3,NR0B1,NSMF, PROK2,PROKR2,PROP1,SEMA3A,SOX10,SPRY4,TAC3,TACR3,WDR11 |
Diseños ExoNIM
Dermatología
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1146 | Porfiria | ALAD,ALAS2,CPOX,FECH,HFE,HMBS,
PPOX,UROD,UROS |
| EXN1008 | Esclerosis Tuberosa | TSC1,TSC2 |
| EXN1107 | Albinismo | C10orf11,GPR143,LYST,MC1R,MITF,MYO5A,
OCA2,RAB27A,SLC24A5,SLC45A2,TYR,TYRP1 |
| EXN1138 | Progeria y Síndromes Progeroides | AGPAT2,ALDH18A1,B3GALT6,B4GALT7,
BANF1,BSCL2,ERCC1,ERCC2,ERCC3,ERCC4, ERCC5,ERCC6,ERCC8,FBN1,FBN1,GJA1, GORAB,INSR,KCNJ6,LMNA,NAA10,PIK3R1, POLD1,PYCR1,RECQL4,RNF113A,WRN,ZMPSTE24 |
| EXN1023 | Ictiosis congénita | ABCA12,ABHD5,ALG8,ALOX12B,ALOXE3,
CASP14,CERS3,CYP4F22,EBP,ERCC2,FLG, GJB2,GJB3,KRT1,KRT1,KRT2,LIPN,NIPAL4, PEX7,PHYH,PNPLA1,SDR9C7,SLC27A4, ST14,STS,SULT2B1,SUMF1,TGM1 |
| EXN1041 | Telangiectasia Hemorrágica Hereditaria | ACVRL1,ENG,GDF2 |
| EXN1063 | Displasias Ectodérmicas | ABCC9,BCS1L,BRAF,CDH3,COL11A1,CTSC,
CTSK,DKC1,DLX3,DSP,EDA,EDA2R,EDAR, EDARADD,EDARADD,ERCC2,ERCC3,EVC, EVC2,FGF10,FGFR2,FGFR3,FLNA,FOXN1, GATA3,GJA1,GJB2,GJB6,HRAS,IFT122,IKBKG, INSR,JUP,KRAS,KRT14,KRT16,KRT17,KRT6A, KRT6B,KRT6C,KRT81,KRT81,KRT83,KRT85, KRT86,MAP2K1,MAP2K2,MPLKIP,MSX1,PVRL1, NFKBIA,NOP10OFD1,PKP1,PORCN,RECQL4, NME1,SHH,SHOC2,TBX3,TERT,TINF2,TP63, TRPS1,UBR1,WDR35,WNT10A , |
| EXN1094 | Cutis laxa | ALDH18A1,ATP6V0A2,ATP7A,EFEMP2,
ELN,FBLN5,GORAB,LTBP4,PTDSS1,PYCR1,RIN2,SLC2A10 |
Diseños ExoNIM
Cardiología, vascular y conectivopatías
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN1070 | Alteraciones genéticas de la aorta (Aneurismas y Disecciones) |
ACTA2,CBS,COL1A1,COL3A1,COL5A1,COL5A2,FBN1,FBN2,
FLNA,MED12,MYH11,MYLK,NOTCH1,PLOD1,PLOD1, PRKG1,SKI,SLC2A10,SMAD3,SMAD4,TGFB2,TGFBR1,TGFBR2 |
| EXN1097 | Cardiopatías congénitas | ABCC9,ACTA1,ACTA2,ANKRD11,BCOR,BRAF,
CBL,CHD7,CITED2,CREBBP,CRELD1,DHCR7,DTNA, EHMT1,EHMT1,ELN,EVC,EVC2,EYA4,AMER1,FBN1, FLNA,GATA4,GATA6,GDF1,GJA1,GJA5,GPC3,HRAS, JAG1,KAT6B,KCNJ8,KDM6A,KRAS,LEFTY2,MAP2K1, MAP2K2,MID1,KMT2D,MYBPC3,MYH11,MYH11,MYH6, MYH7,NEXN,NF1,NIPBL,NKX2-5,NKX2-6,NODAL, NOTCH1,NOTCH2NRAS,NSD1,NSDHL,PITX2,PTPN11, RAF1,RAI1,RIT1,RRAS,SALL1,SEMA3E,SHOC2,SMAD2, SMAD3,SOS1,SOX9,SPECC1L,TBX1,TBX20,TBX5, TFAP2B,TNNI3,TTN,ZEB2,ZFPM2,ZIC3 , |
| EXN1098 | Conectivopatías | ABCC6,ACTA2,ACVR1,ADAMTS10,ADAMTS2,ADAMTSL4,
ALDH18A1,ATP6V0A2,ATP7A,B4GALT7,CBS,CHST14, COL11A1,COL11A2,COL11A2,COL1A1,COL1A2,COL2A1, COL3A1,COL4A1,COL5A1,COL5A2,COL9A1,COL9A2, COL9A3,EFEMP2,ELN,FBLN5,FBN1,FBN2,FGFR3, FKBP14,FLNA,FMR1,KCNJ2,LTBP2,MED12,MYH11, MYLK,NOTCH1,PKD2,PKD2,PLOD1,PLOD3,PRDM5, PYCR1,RIN2,SKI,SLC2A10,SLC39A13,SMAD3, SMAD4SMS,TGFB1,TGFB2,TGFBR1,TGFBR2,TNXB, UPF3B,ZNF469 |
| EXN1019 | Trastornos Hereditarios del Colágeno VI | COL12A1,COL6A1,COL6A2,COL6A3 |
| EXN1031 | Hiperlaxitud Articular | ACTA2,ADAMTS2,ALDH18A1,ATP7A,B4GALT7,BMP1,
CBS,CHST14,COL11A1,COL11A2,COL1A1,COL1A2, COL2A1,COL3A1,COL3A1,COL5A1,COL5A2,COL5A3, COL6A1,COL6A3,COL9A1,COL9A2,COL9A3,CRTAP, FBN1,FBN2,FKBP10,FKBP14,FLNA,KIF22,MED12, MYH11,MYLK,NOTCH1,P3H1,PLOD1,PLOD2,PLOD3, PPIB,PRKG1,SERPINH1,SERPINH1,SKI,SLC2A10, SLC39A13,SMAD3,SMAD4,SP7,TGFB2,TGFBR1,TGFBR2, TNXBVCAN,ZNF469 |
| EXN1032 | Angioma Cavernoso Familiar |
Diseños ExoNIM
Epilepsia
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN5007 | Epilepsia asociada a alteraciones neurometabólicas | ABAT, ADSL, AGA, ALDH5A1, ALDH7A1,
ALG13, AMT, ARG1, BCKDK, BTD, DPYD, FH, FOLR1, GAMT, GCH1, GCSH, GLDC, GNE, L2HGDH, LIAS, MOCS1, MTHFR, PEX1, PGK1, PHF6, PNPO, PRODH, PTS, QDPR, SLC19A3, SLC25A15, SLC2A1, SLC46A1, SLC6A8, ST3GAL5, SUOX |
| EXN5002 | Encefalopatía epiléptica infantil de inicio precoz y/o espasmos infantiles |
AARS, ALDH7A1, ALG13, ARHGEF15, ARHGEF9,
ARX, ATP6AP2, CACNA1A, CACNA2D2, CASK, CASR, CDKL5, CHD2, DNM1, DOCK7, EEF1A2, GABRA1, GABRB1, GABRB3, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPH1, HNRNPU, IQSEC2, KCNA2, KCNB1, KCNQ2, KCNT1, MAGI2, MEF2C, NECAP1, PCDH19, PIGA, PIGV, PLCB1, PNKP, PNPO, POLG, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SZT2, TBC1D24, TSC1, TSC2, WWOX, SLC6A1, SPTAN1, ST3GAL3, TBC1D24, TSC2, WWOX |
| EXN5011 | Convulsiones Neonato-Infantil Benignas Familiares |
KCNQ2, KCNQ3, PRRT2, SCN2A, SCN8A |
| EXN5003 | Epilepsia nocturna del lobulo frontal | CHRNA2, CHRNA4, CHRNB2, CRH, KCNT1 |
| EXN5006 | Epilepsia Mioclónica Juvenil | ASAH1, ATP13A2, CERS1, CLN3, CLN5, CLN6,
CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, GBA, GOSR2, GRN, KCNC1, KCTD7, LMNB2, MFSD8, NEU1, NHLRC1, PPT1, PRDM8, PRICKLE1, PRICKLE2, SCARB2, TBC1D24, TPP1 |
| EXN5005 | Epilepsia Mioclónica Progresiva | CACNB4, CLCN2, EFHC1, GABRA1, GABRD |
| EXN5008 | Epilepsia generalizada con convulsiones febriles plus |
ADGRV1, CHD2, CPA6, GABRA1, GABRB3, GABRD,
GABRG2, HCN1, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, STX1B, STXBP1 |
| EXN5009 | Epilepsia (todos los genes de ExoNIM Plus) | ABAT, ADSL, ALDH7A1, ALG13, ARHGEF15,
ARHGEF9, ARX, ASPM, ATP1A3, ATP1A2, ATP6AP2, BCKDK, BRAT1, CACNA1A, CACNB4, CASK, CASR, CBL, CDKL5, CENPJ, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CSNK1G1, CSTB, CTSD, DCX, DEPDC5, DNAJC5, DNM1, EEF1A2, EFHC1, EPM2A, FASN, FOLR1, FOXG1, GABBR2, GABRA1, GABRB3, GABRG2, GALC, GAMT, GATM, GOSR2, GPR56, GPR98, GRIN1, GRIN2A, GRIN2B, HCN1, HDAC4, HNRNPU, IQSEC2, KCNA1, KCNA2, KCND2, KCNH5, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, LIAS, MAPK10, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MMACHC, MTHFR, MTOR, NDE1, NDUFA1, NEDD4L, NHLRC1, NRXN1, OPHN1, OTC, PAFAH1B1, PCDH19, PDHA1, PDHB, PHF6, PIGQ, PLCB1, PNKP, PNPO, POLG, POLG2, PPT1, PRICKLE1, PRICKLE2, PRRT2, PSAP, QARS, RBFOX1, RBFOX3, RELN, RYR3, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SLC19A3, SLC25A12, SLC25A19, SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STIL, STXBP1, SURF1, SYN1, SYNGAP1, TBC1D24, TCF4, TLR4, TPP1, TSC1, TSC2, TSEN54, UBE3A, WDR62, ZEB2 |
| EXN5010 | Epilepsia Focal | CHRNA2, CHRNA4, CHRNB2, CRH, DEPDC5, GRIN2A,
KCNT1, LGI1, PRRT2, SCN1A, SCN1B |
| EXN5001 | ExoNIM Plus epilepsia | AARS,ABAT,ADGRG1,ADGRV1,ADSL,AGA,ALDH5A1,
ALDH7A1,ALG13,AMT,ARFGEF2,ARG1,ARHGAP31, ARHGEF15,ARHGEF9,ARX,ASAH1,ASPM,ATP13A2, ATP1A2,ATP1A3,ATP6AP2,ATRX,BCKDK,BRAT1,BTD, CACNA1A,CACNA2D2,CACNB4,CASK,CASR,CBL,CDKL5, CENPJ,CERS1,CHD2,CHRNA2,CHRNA4,CHRNB2,CLCN2, CLCN4,CLN3,CLN5,CLN6,CLN8,CNKSR2,CNTNAP2, COL4A1,COL4A2,COX10,CPA6,CRH,CSNK1G1,CSTB,CTSD, CTSF,DCX,DEPDC5,DNAJC5,DNM1,DOCK6,DOCK7, DPYD,DYRK1A,EEF1A2,EFHC1,EHMT1,EMX2,EOGT, EPM2A,FASN,FH,FLNA,FOLR1,FOXG1,FOXRED1, GABBR2,GABRA1,GABRB1,GABRB2,GABRB3,GABRD, GABRG2,GALC,GAMT,GATM,GBA,GCH1,GCSH, GLDC,GNAO1,GNE,GOSR2,GRIN1,GRIN2A,GRIN2B, GRN,HCN1,HDAC4,HNRNPH1,HNRNPU,IQSEC2, KANSL1,KCNA1,KCNA2,KCNB1,KCNC1,KCND2, KCNH5,KCNJ10,KCNJ11,KCNMA1,KCNQ2,KCNQ3, KCNT1,KCTD7,L2HGDH,LGI1,LIAS,LMNB2,MAGI2, MAPK10,MBD5,MCPH1,MECP2,MEF2C,MFSD8, MMACHC,MOCS1,MTHFR,MTOR,NDE1,NDUFA1, NDUFA2,NDUFAF3,NDUFAF5,NDUFAF6,NDUFS8, NECAP1,NEDD4L,NEU1,NHLRC1,NOTCH1,NRXN1, NUBPL,OPHN1,OTC,PAFAH1B1,PCDH19,PDHA1,PDHB, PEX1,PGK1,PHF6,PIGA,PIGQ,PIGV,PLCB1,PNKP,PNPO, POLG,POLG2,PPT1,PRDM8,PRICKLE1,PRICKLE2, PRODH,PRRT2,PSAP,PTS,QARS,QDPR,RBFOX1, RBFOX3,RBPJ,RELN,RYR3,SCARB2,SCN1A,SCN1B, SCN2A,SCN3A,SCN8A,SCN9A,SIK1,SLC12A5,SLC13A5, SLC19A3,SLC25A12,SLC25A15,SLC25A19,SLC25A22, SLC2A1,SLC35A2,SLC46A1,SLC6A8,SLC9A6,SNIP1, SPATA5,SPTAN1,SRPX2,ST3GAL3,ST3GAL5,STIL, STX1B,STXBP1,SUOX,SURF1,SYN1,SYNGAP1,SZT2, TBC1D24,TCF4,TPP1,TSC1,TSC2,TSEN54,TUBA1A,UBE3A, WDR62,WWOX,YWHAG,ZEB2 |
Diseños ExoNIM
Metabólicas
| Referencia | Enfermedad | Genes |
|---|---|---|
| EXN5007 | Epilepsia asociada a alteraciones neurometabólicas | ABAT, ADSL, AGA, ALDH5A1, ALDH7A1, ALG13,
AMT, ARG1, BCKDK, BTD, DPYD, FH, FOLR1, GAMT, GCH1, GCSH, GLDC, GNE, L2HGDH, LIAS, MOCS1, MTHFR, PEX1, PGK1, PHF6, PNPO, PRODH, PTS, QDPR, SLC19A3, SLC25A15, SLC2A1, SLC46A1, SLC6A8, ST3GAL5, SUOX |
| EXN1100 | Enfermedades por trastorno del metabolismo del glucógeno |
AGL,ALDOA,ENO3,EPM2A,FBP1,FBP2,G6PC,GAA,
GBE1,GYG1,GYG2,GYS1,GYS2,LAMP2,LAMP2,LDHA, NHLRC1,PFKL,PFKM,PGAM2,PGK1,PGM1,PHKA1, PHKA2,PHKB,PHKG1,PHKG2,PRKAG2,PYGL, PYGM,SLC2A2,SLC37A4 |
| EXN1073 | Neuroacantocitosis, Enfermedad de Wilson y Enfermedad por depósitos de hierro |
ATN1,ATP13A2,ATP7B,C19orf12,COASY,CP,DCAF17,
FA2H,FTL,FUCA1,HPRT1,KIF1A,PANK2,PLA2G6, PLA2G6,SQSTM1,TAF1,TRIM32,VPS13A,WDR45,XK |
| EXN1125 | Alteraciones en el Metabolismo del Folato y Homocisteína |
ADK,AHCY,ALDH6A1,CBS,CD320,CTH,FOLH1,
GNMT,LMBRD1,MAT1A,MCEE,MMAA,MMAB, MMACHC,MMACHC,MMADHC,MTHFR,MTR, MTRR,MUT,TCN2 |
| EXN1129 | Trastornos congénitos de la glicosilación | ALG1,ALG11,ALG12,ALG13,ALG2,ALG3,ALG6,
ALG8,ALG9,ATP6V0A2,B3GALTL,B4GALT1, CHST14,COG1,COG1,COG4,COG5,COG6,COG7, COG8,DDOST,DOLK,DPAGT1,DPM1,DPM2, DPM3,GNE,MGAT2,MOGS,MPDU1,MPI,NGLY1, PGM1,PGM3,PIGL,PIGN,PIGO,PIGT,PIGW, PMM2,RFT1,RFT1,SLC35A1,SLC35A2,SLC35C1, SRD5A3,STT3A,STT3B,TMEM165,TUSC3 |
| EXN1134 | Deficiencia de sulfito oxidasa, molibdeno y xantina | GPHN,MOCOS,MOCS1,MOCS2,SUOX,XDH |
| EXN1136 | Hiperglicemia no cetósica – encefalopatía por glicina | GCSH,GLDC,AMT,DLD,LIAS,NFU1,SLC6A9 |
| EXN1066 | Distroglicanopatías | B3GALNT2,B3GNT2,DAG1,DPM1,DPM2,DPM3,
FKRP,FKTN,GMPPB,ISPD,LARGE,POMGNT1, POMGNT2,POMK,POMK,POMT1,POMT2,TMEM5 |
| EXN1071 | Errores del metabolismo con hiperamonemia | ARG1,ASL,ASS1,CA5A,CPS1,GLUD1,GLUL,
HLCS,HMGCL,MCCC1,MCCC2,MMAA,MMAB,NAGS, NAGS,OTC,SLC22A5,SLC25A13 |
ExoNIM Plus Epilepsia
| Convulsiones neonatales-infantiles benignas familiares | KCNQ2, KCNQ3, PRRT2, SCN2A, SCN8A | Epilepsia NO sindrómica |
|---|---|---|
| Encefalopatía Epiléptica infatil de inicio precoz y/o espasmos infantiles (síndromes de West, Ohtahara y Dravet) | AARS, ALDH7A1, ALG13, ARHGEF15, ARHGEF9*, ARX*, ATP6AP2*, CACNA1A, CACNA2D2*, CASK*, CASR, CBL, CDKL5, CHD2, CSNK1G1, DNM1, DOCK7, EEF1A2, FASN, GABBR2*, GABRA1, GABRB1, GABRB3*, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, HDAC4, HNRNPH1, HNRNPU, IQSEC2*, KCNA2, KCNB1, KCNQ2, KCNT1, MAGI2*, MAPK10, MEF2C, MTOR, NEDD4L, NECAP1, OTC, PCDH19, PIGA*, PIGQ, PIGV, PLCB1, PNKP, PNPO, POLG, QARS, RYR3, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC25A12, SLC25A22, SLC2A1, SLC35A2*, SPTAN1, ST3GAL3, STXBP1, SYNGAP1*, SZT2, TBC1D24, TSC1, TSC2, WWOX, YWHAG | |
| Epilepsia generalizada con convulsiones febriles plus | SCN9A, ADGRV1 (GPR98), CHD2, CPA6, GABRA1, GABRB3, GABRD*, GABRG2*, HCN1, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, STX1B, STXBP1 | |
| Epilepsia Mioclónica | Infantil: BRAT1, TBC1D24 | |
| Juvenil: CACNB4, CLCN2, EFHC1, GABRA1, GABRD | ||
| Progresiva: ASAH1, CERS1**, CSTB, EPM2A, GOSR2, KCNC1, LMNB2*, NHLRC1, PRDM8*, PRICKLE1, PRICKLE2, SCARB2, TBC1D24 | ||
| Epilepsia Focal (Autosómica Dominante) | E. Focal y asociados: GRIN2A, PRRT2, SCN1A, SCN1B, SCN3A | |
| E. Familiar del lóbulo temporal: LGI1 | ||
| E. Nocturna del lóbulo frontal: CHRNB2, CHRNA4, CHRNA2, CRH, KCNT1 | ||
| E. Familiar focal con focos variables: DEPDC5 | ||
| Sindrome de Rett ó Rett-Like | CDKL5, FOXG1**, MBD5, MECP2, MEF2C | Síndromes asociados a Epilepsia |
| Sindromes de Angelman, Angelman-like, y Pitt-Hopkins | UBE3A, SLC9A6, MBD5, ATRX*, EHMT1, TCF4, NRXN1, CNTNAP2 | |
| Sindrome de Mowat-Wilson | ZEB2 | |
| Lipofuscinosis neuronal ceroidea | PPT1, TPP1, CLN3, CLN5, CLN6*, MFSD8, CLN8, CTSD, DNAJC5, CTSF*, ATP13A2, GRN, KCTD7 | |
| Hemiplejia alternate de la infancia | ATP1A2, ATP1A3 | |
| Síndrome EAST/SeSAME | KCNJ10 | |
| Epilepsia asociada a retraso mental | ATP6AP2, CASK, CLCN4, CNKSR2*, DYRK1A, EEF1A2, GABRB2, GALC, GATM, GRIN2A, GRIN2B, KANSL1, KCNJ11, MEF2C, OPHN1, PNKP, PPT1, RBFOX1, RBFOX3, SLC6A8, SNIP1, SPATA5, SRPX2, SYN1* | |
| Epilepsia asociada a malformaciones Cerebrales (Lisencefalia, Microcefalia, porencefalia, y/o Hipoplasia cerebelar) | ADGRG1 (GPR56), ARHGAP31, ARX, ASPM, CASK, CENPJ, COL4A1, COL4A2, DCX, DOCK6, EMX2, EOGT, FLNA, MCPH1, MTOR, NDE1, NOTCH1, OPHN1*, PAFAH1B1, QARS, RBPJ, RELN, SLC25A19, STIL, TSEN54*, TUBA1A, WDR62, ZEB2 | |
| Canalopatías asociadas a enfermedades neurológicas | KCNA1, KCNMA1, KCND2, KCNH5 | |
| Epilepsia asociada a encefalomiopatía mitocondrial | NDUFA1, NUBPL*, POLG2, POLG, POLG2, SURF1* | Epilepsias Neurometabolicas/Mitocondriales/Lisosomales |
| Epilepsia asociada a patología lisosomal | Lipofuscinosis ceroides: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1 | |
| Síndrome de Gaucher: GBA, PSAP | ||
| Sialidosis: NEU1 | ||
| Epilepsia asociada a alteraciones neurometabólicas | ADSL, ABAT, AGA, ALDH5A1*, ALDH7A1*, ALG13*, AMT, ARG1, BCKDK, BTD, DPYD, FH*, FOLR1, GAMT, GCH1, GCSH*, GLDC*, GNE, L2HGDH, LIAS, MMACHC, MOCS1*, MTHFR, PDHA1*, PDHB*, PEX1, PGK1* , PHF6, PNPO, PRODH**, PTS , QDPR, SLC19A3, SLC25A15, SLC2A1, SLC46A1 , SLC6A8, ST3GAL5*, SUOX | |
Todos los genes incluidos en el panel presentan una cobertura 20X superior al 99%, excepto 36 genes que presentan coberturas entre 90 – 99% * y 3 genes que presentan coberturas entre 80 – 90% **