NGS ExoNIM®
ExoNIM® is the NIMGenetics platform for complete exome sequencing. The success of this technology lies in its flexibility and ability to adapt to the needs of the patient, which makes it an ideal tool in diseases of high genotypic and/or phenotypic heterogeneity. From the 19,000 genes of the patient, the genes to be studied can be selected, simultaneously or sequentially, depending on the patient’s phenotype.
NIMGenetics offers five approaches to the analysis of the sequencing results: ExoNIM® Targeted, ExoNIM® Clinical, ExoNIM® Trio, ExoNIM® Epilepsy Premium and ExoNIM® Personalized.
ExoNIM® Targeted
Exome analysis approach based on the selection of genes associated with the patient’s phenotype. After sequencing the 19,000 genes of the patient, those associated with the clinical picture are analyzed. The entire sequence is stored, which allows the realization of different sequential analyses.
ExoNIM® Targeted presents the following advantages:
- Possibility of combining panels in case of concurrent pathologies or overlapping or non-specific phenotypes.
- Opportunity to extend the analysis due to the appearance of new symptoms, redefining the phenotype, or describing new genes involved in the pathology under study.
- Expandable study compatible with other ExoNIM® Approaches: ExoNIM Clinical, ExoNIM Trio or ExoNIM Epilepsy Plus.
NIMGenetics offers the specialist more than 160 designs of ExoNIM®Targeted.
ExoNIM® Clinical
An ExoNIM® approach that focuses on the analysis of genes with an OMIM phenotype (Online Mendelian Inheritance in Man; (OMIM). The entire sequence is stored, which allows the realization of different analyses sequentially.
ExoNIM® Clinical presents the following advantages:
- Allows the simultaneous analysis of all genes associated with Mendelian diseases, which increases the possibilities of identifying the responsible variant in complex phenotypes.
- This study can be performed using the sequencing results obtained from ExoNIM ® Targeted or ExoNIM ® Personalized.
In cases of negative reuslts, this study can be completed with ExoNIM® Trio.
Reference: EXN4001
Delivery of results: 60 working days from receipt of the sample.
ExoNIM® Trio
An ExoNIM® approach based on the sequencing of the 19,000 genes of the patient and the parents. The genetic information of the parents allows the determination of the inheritence pattern in the identified variants. This approach facilitates the identification of the causal variants of the patient’s phenotype.
The main advantages of this approach are:
- Possibility of identifying new genes not initially included in the differential diagnosis.
- A cost effective approach for the diagnosis of neurodevelopmental disorders (greater than 30% in syndromic cases with negative results in array-CGH).
- This study can be performed using the sequencing results obtained from: ExoNIM® Clinial, ExoNIM® Epilepsy Plus, ExoNIM® Targeted or ExoNIM® Personalized.
- Can be used to establish the inheritance pattern of all the identified variants
- It accelarates the diagnostic process, avoiding unnecessary tests.
Reference: EXN3001
Delivery of results: 90 working days after receipt of the sample.
ExoNIM® Epilepsy Plus
A global approach for the study of the different clinical forms of epilepsy that analyzes 223 genes with clinical relevance from sequencing of the complete exome (ExoNIM®).
The sequence obtained is stored, which allows the application of different analyses simultaneously or sequentially, which can be requested in different ways:
- Targeted Study of the genes associated with a defined epileptic syndrome. Access our designs for ExoNIM® Targeted to epilepsy.
- Address complex pathologies through the combined analysis of different designs of ExoNIM® Targeted according to the signs and symptoms of the patient. This diagnostic strategy allows combining the genes associated with epilepsy with those associated with disorders such as ASD, intellectual disability, or mitochondrial diseases, among others.
- Any of the studies based on exonic sequencing can be expanded, through:
- The inclusion of genes described after the analysis.
- The realization of ExoNIM Clinical or ExoNIM Trio.
ExoNIM Epilepsy Plus forms part of our global solution to the study of the etiopathogenesis of epilepsy: NIMNET® Epilepsy
Reference: EXN5001
Delivery of results: 60 working days after receipt of sample.
ExoNIM® Personalized
An ExoNIM® approach that allows the design of a panel of genes adapted to the needs of the specialis.
The main advantages of this approach are::
- Possibility of extending the analysis due to the appearance of new symptoms, redefining the phenotype or inclusion or new genes involved in the studied pathology.
- This study can be performed using the sequencing results obtained from ExoNIM®: ExoNIM® Targeted, ExoNIM® Clinical, ExoNIM® Trio or ExoNIM® Epilepsy Plus.
When is it indicated?
ExoNIM® Personalized is indicated when the specialist considers it appropriate to select specific genes for the genetic study of a specific clinical picture.
Referencia: EXN6201
Delivery of results: 60 working days after receipt of the sample.
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ExoNIM
Cardiology, angiology and connective pathologies
| Reference | Diseases | 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 |
ExoNIM
Dermatology
| Reference | Diseases | 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 |
ExoNIM
Reproductive genetics
| Reference | Diseases | 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 |
ExoNIM
Endrocrinology
| Reference | Diseases | 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 |
ExoNIM
Epilepsy
| Reference | Diseases | 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 |
ExoNIM
Gastroenterology
| Reference | Diseases | 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 , |
ExoNIM
Hematology
| Reference | Diseases | 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 |
ExoNIM
Inmunology
| Reference | Diseases | 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 |
ExoNIM
Metabolic diseases
| Reference | Diseases | 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
Mitochrondrial, peroxisomal and lysosomal
| Reference | Diseases | 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 |
ExoNIM
Nefrology
| Reference | Diseases | 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 |
ExoNIM
Pneumology
| Reference | Diseases | 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
Neurology
| Reference | Disease | 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
Ophtalmology
| Reference | Disease | 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 |
ExoNIM
Otorhinolaryngology
| Reference | Disease | 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 |
ExoNIM Paediatrics
| Reference | Disease | 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 |
ExoNIM Epilepsy Plus
| 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% **
