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®

Referência: EXN4001
Prazo de liberação: 55 dias úteis

ExoNIM®
Termo de Consentimento

Entre em contato:

ExoNIM® Trio

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®
Termo de Consentimento

Entre em contato:

ExoNIM® Plus Epilepsia

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

ExoNIM®

Entre em contato:

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

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

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% **

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NGS ExoNIM®

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ExoNIM® Trio

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Referência: EXN3001 Prazo de liberação: 75 dias úteis

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Prazo de liberação: 55 dias úteis