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Genética

Bienvenidos al Servicio de Genética de la Web Médica del Hospital Universitario Marqués de Valdecilla

Aquí encontrará información sobre el equipo médico, la cartera de servicios y otros datos de interés de la unidad.

Los datos referentes a investigación, corresponden a la memoría anual ( Fuente: IDIVAL)

Equipo

Listado de miembros del equipo
Dr. FERNÁNDEZ LUNA, JOSÉ LUISCoordinador
Dra. MARTINEZ MERINO, M TERESAAdjunto / F.E.A.

Otros

CURIEL DEL OLMO, SORAYA CARMENP. TÉCNICO T. SUPERIOR BIÓLOGO
FERNANDEZ LUNA, JOSE LUISP. TÉCNICO T. SUPERIOR BIÓLOGO
FONTALBA ROMERO, ANA MP. TÉCNICO T. SUPERIOR BIÓLOGO
GARCIA CASTRO, MONICAP. TÉCNICO T. SUPERIOR BIÓLOGO
GOMEZ PEREZ, LUISP. TÉCNICO T. SUPERIOR BIÓLOGO
ONECHA DE LA FUENTE, MARIA ESTHERP. TÉCNICO T. SUPERIOR BIÓLOGO
PAZ GANDIAGA, NEREAP. TÉCNICO T. SUPERIOR BIÓLOGO
VEGA PAJARES, ANA ISABELP. TÉCNICO T. SUPERIOR BIÓLOGO

Cartera de Servicios

Resumen cartera de servicios

UNIDAD DE GENÉTICA

La misión de la Unidad de Genética es el diagnóstico de enfermedades
genéticas hereditarias mediante distintas técnicas genómicas para poder
ofrecer a los pacientes un adecuado asesoramiento, pronóstico,
prevención y tratamiento.

Para ello, la Unidad de Genética consta de distintas secciones:

Consulta de Asesoramiento Genético. Asesora a pacientes y/o
familiares con riesgo de padecer o transmitir una enfermedad
hereditaria sobre sus consecuencias, la probabilidad de padecerla o
transmitirla y la forma en que se puede prevenir o evitar.

Citogenética.  Se realizan estudios prenatales y postnatales de las
alteraciones numéricas y estructurales de los cromosomas, mediante
cariotipos, array-CGH, QF-PCR y FISH.

Genética Molecular.  Se analizan fundamentalmente mutaciones
puntuales, pequeñas inserciones/deleciones, variaciones en el número
de copias y alteraciones del splicing (que afectan al funcionamiento y/o
la expresión de genes) asociadas a enfermedades hereditarias. Para ello
se utilizan diversas tecnologías, como la PCR cuantitativa, MLPA, análisis
de fragmentos por electroforesis capilar, secuenciación tipo Sanger y
secuenciación masiva (paneles NGS y exoma completo).

CARTERA DE SERVICIOS

CONSULTA DE ASESORAMIENTO GENÉTICO

CITOGENÉTICA: ESTUDIOS PRENATALES

  • Cribado de aneuploidías (T13, T18 y T21) prenatal no invasivo: NIPT
  • QF-PCR aneuploidías (T13, T18, T21 y X/Y)
  • Cariotipo prenatal
  • Array-CGH prenatal
  • Otros estudios

CITOGENÉTICA: ESTUDIOS POSTNATALES

  • Cariotipo constitucional
  • QF-PCR aneuploidías (T13, T18, T21 y X/Y)
  • Array-CGH de 60K
  • Array-CGH de 180K
  • Estudios dirigidos mediante FISH
  • Otros estudios

GENÉTICA MOLECULAR

  • Hipoacusias mitocondriales (MTRNR1, MTTL1)
  • Hipoacusia DFNB1 (GJB2, GJB6)
  • Azoospermia (esterilidad masculina) (Región AZF del cromosoma Y)
  • Hemocromatosis tipo 1 (HFE)
  • Fibrosis quística (CFTR)
  • Enfermedad de Rendu-Osler-Weber (ACVRL1, ENG, SMAD4)
  • Estudios familiares de enfermedades hereditarias.
  • Estudio de Enfermedad de Huntington (HTT)
  • Distrofia miotónica tipo 1 o Enfermedad de Steinert​ (DMPK)
  • Estudio de Ataxia de Friedreich (FXN)
  • Estudio de ataxias espinocerebelosas (SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17, DRLPA)
  • Estudio de X-frágil (FMR1)

GENÉTICA MOLECULAR – SECUENCIACIÓN MASIVA

  • Cáncer hereditario (panel NGS)
  • Miocardiopatía Hipertrófica (panel NGS)
  • Hipoacusias hereditarias (exoma dirigido)
  • Enfermedades neurológicas hereditarias (exoma dirigido)
  • Dislipemia familiar y riesgo cardiovascular (exoma dirigido)
  • Nefropatías hereditarias (exoma dirigido)
  • Diabetes MODY (exoma dirigido)
  • Metabolopatías congénitas (exoma dirigido)
  • Metabolismo óseo (exoma dirigido)
  • Enfermedades oftalmológicas hereditarias (exoma dirigido)
  • Enfermedades pulmonares hereditarias (exoma dirigido)
  • Trastornos hereditarios del sistema inmune (exoma dirigido)
  • Otras enfermedades genéticas hereditarias (exoma dirigido)
  • Reanálisis de variantes genéticas

FARMACOGENÉTICA

  • Respuesta a tiopurinas (TPMT)
  • Respuesta a fluoropirimidinas (DPYD)
  • Respuesta a Siponimod (CYP2C9)
  • Respuesta a Tacrolimus (CYP3A5)
  • Ototoxicidad por gentamicina (A1555G en ADN mitocondrial)
GRUPO DE ENFERMEDADPATOLOGÍAGENES
CANCER HEREDITARIO (PANEL NGS)CÁNCER COLORRECTAL NO POLIPÓSICO HEREDITARIO (SÍNDROME DE LYNCH) (18 GENES)APC, AXIN2, BLM, BMPR1A, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
CÁNCER DE ENDOMETRIOMLH1, MSH2, MSH6, PMS2, EPCAM (del 3' end), MUTYH, POLE (exones 7-14), POLD1 (exones 6-13), PTEN (si criterios S. Cowden)
CÁNCER DE PÁNCREASBRCA1, BRCA2, MLH1, MSH2, MSH6, ATM, PALB2, CDKN2A, STK11, PRSS1 (si criterios de pancreatitis hereditaria)
CÁNCER DE PRÓSTATA HEREDITARIO (15 GENES)ATM, BRCA1, BRCA2,  BRIP1, CHEK2, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, TP53
CÁNCER RENAL HEREDITARIO (22 GENES)BAP1, CDC73, CHEK2, DICER1, EPCAM, FH, FLCN, MET, MLH1, MSH2, MSH6, PMS2, PTEN, SDHA, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, WT1
MELANOMA FAMILIAR (8 GENES)BAP1, BRCA2, CDK4, CDKN2A, POT1, PTEN, RB1, TP53
NEUROFIBROMATOSIS (3 GENES)NF1, NF2, SPRED1
POLIPOSIS ADENOMATOSA FAMILIAR (2 GENES)APC, MUTYH
SÍNDROME DE CÁNCER MAMA/OVARIO HEREDITARIO (16 GENES)ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MSH2, MSH6, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
SINDROME DE GORLIN (3 GENES)PTCH1, PTCH2, SUFU
TUMORES NEUROENDOCRINOS (7 GENES)MEN1, NF1, RET, SDHB, SDHC, SDHD, VHL
XERODERMA PIGMENTOSO (8 GENES)DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
MIOCARDIOPATÍAS (PANEL NGS)MIOCARDIOPATÍA HIPERTRÓFICA (18 genes)ACTC1, DES, FHL1, FHOD3, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR
DISLIPEMIAS (EXOMA DIRIGIDO)DISLIPIDEMIA FAMILIAR (103 GENES)ABCA1, ABCG1, ABCG5, ABCG8, ADD1, AGPAT2, AKT2, ANGPTL3, ANGPTL4, APOA1, APOA2, APOA4, APOA5, APOB, APOBEC1, APOC2, APOC3, APOE, APPL1, ATF6, BLK, BSCL2, BUD13, CAV1, CAVIN1, CEL, CELSR2, CERS4, CETP, CIDEC, CILP2, CRABP2, EIF2AK3, EPHX2, FABP2, FOXC2, FOXP3, FTO, GALNT2, GATA6, GCK, GLIS3, GPD1, GPIHBP1, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSIG2, INSR, KCNJ11, KLF11, KLHL8, LCAT, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPC, LIPE, LIPG, LMF1, LMNA, LPA, LPL, LRP6, MAFB, MC4R, MEF2A, MTTP, MYLIP, NEUROD1, NEUROG3, PAX4, PCDH15, PCSK9, PDX1, PHKA2, PLIN1, PNPLA2, PNPLA5, PON1, PPARA, PPARG, PSMB8, PTF1A, RFX6, RXRG, SAR1B, SCARB1, SLC25A40, SLC2A2, SORT1, STAP1, TBC1D4, TCF7L2, TNFRSF1B, TRIB1, USF1, WFS1, WWOX, ZMPSTE24
LIPODISTROFIAS (12 GENES)AGPAT2, AKT2, BSCL2, CAV1, CAVIN1, CIDEC, LIPE, LMNA, PLIN1, PPARG, PSMB8, ZMPSTE24
HIPERCOLESTEROLEMIA FAMILIAR (13 GENES)ABCG5, ABCG8, APOB, APOE, CRABP2, EPHX2, LDLR,  LDLRAP1,  LIPA, LPA, PCSK9, PNPLA5,  STAP1
HIPERTRIGLICERIDEMIA PRIMARIA / POLIGENICA / HIPERLIPERMIA COMBINADA FAMILIAR (47 GENES)ADD1, ANGPTL3, APOA1, APOA4, APOA5, APOB, APOBEC1, APOC2, APOC3, APOE, ATF6, BUD13, CERS4, CETP, CILP2, CRABP2, FABP2, FOXC2, FTO, GALNT2, GPD1, GPIHBP1, HNF4A, KLHL8, LCAT, LDLR, LEP, LEPR, LIPC, LMF1, LPL, LRP6, MC4R, MYLIP, PCDH15, PCSK9, PNPLA2, PON1, PPARA, PPARG, RXRG, SLC25A40, TCF7L2, TNFRSF1B, TRIB1, USF1, WWOX
HIPOLIPIDEMIA FAMILIAR (13 GENES)ABCA1, ABCG1, ANGPTL3, ANGPTL4, APOA1, APOA2, APOB, APOC3, LCAT, MTTP, MYLIP, PCSK9, SAR1B
Diabetes tipo MODY y formas de presentación precoz (EXOMA DIRIGIDO)Diabetes MODY (13 GENES)AKT2, APPL1, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, NEUROD1, PDX1, PTF1A, RFX6
Diabetes de presentación precoz (11 GENES)EIF2AK3, FOXP3, GATA6, GLIS3, IER3IP1, INSIG2, INSR, NEUROG3, SLC2A2, TBC1D4, WFS1
ENFERMEDADES RENALES (EXOMA DIRIGIDO)ENFERMEDAD POLIQUISTICA RENAL (6 GENES)DNAJB11, DZIP1L, GANAB, PKD1, PKD2, PKHD1
NEFROPATIA IgA (3 GENES)ACE, AGT, SPRY2
SINDROME DE ALPORT (3 GENES)COL4A3, COL4A4, COL4A5
ALTERACIONES DEL METABOLISMO OSEO / METABOLOPATIAS CONGENITAS                                    (EXOMA DIRIGIDO)ACIDEMIA MALONICAMLYCD
ACIDEMIA PROPIONICA (2 GENES)PCCA, PCCB
ACIDURIA 2-HIDROXIGLUTARICA (2 GENES)D2HGDH, L2HGDH
ACIDURIA 3-METILGLUTACONICA (8 GENES)AUH, CLPB, DNAJC19, HTRA2, OPA3, SERAC1, TAZ, TIMM50
ACIDURIA 4-HIDROXIBUTIRICAALDH5A1
ACIDURIA D-GLICÉRICAGLYCTK
ACIDURIA ETILMALONICA CON ENCEFALOPATIAETHE1
ACIDURIA GLUTARICA (5 GENES)ETFA, ETFB, ETFDH, GCDH, SUGCT
ACIDURIA HIDROXIMETILGLUTARICAHMGCL
ACIDURIA ISOVALERICAIVD
ACIDURIA METILMALONICA (5 GENES)MCEE, MMAA, MMAB, MMADHC, MUT
ACIDURIA METILMALONICA CON HOMOCISTINURIA (9 GENES)ABCD4, AMN, CD320, GIF, HCFC1, LMBRD1, MMACHC, MMADHC, TCN2
ACIDURIA METILMALONICA Y MALONICA COMBINADAACSF3
ACIDURIA MEVALONICAMVK
ACIDURIA OXOGLUTARICAOGDH
ADRENOLEUCODISTROFIA LIGADA AL XABCD1
ALTERACIONES METABOLISMO DEL FOLATO (2 GENES)FOLR1, SLC46A1
BIOTINIDASABTD
CRANEOSINOSTOSIS (10 GENES)ADAMTSL4, ALPL, CTSK, FBN1, FGFR3, FLNA, GNAS, IDS, IDUA, SMAD6
CUTIS LAXA (9 GENES)ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
DEFECTOS EN b-OXIDACION DE ACIDOS GRASOS (10 GENES)ACADM, ACADS, ACADVL, CPT1A, CPT2, HADH, HADHA, HADHB, SLC22A5, SLC25A20
DEFECTOS EN EL CICLO DE LA UREA (10 GENES)AASS, ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15, SLC7A2
DEFECTOS EN LA BIOSISTESIS DEL COLESTEROL (4 GENES)DHCR7, DHCR24, NSDHL, SC5D
DEFICIENCIA DE 2-METIL-3-HIDROXIBUTIRIL-CoA DESHIDROGENASAHSD17B10
DEFICIENCIA DE GLICEROL QUINASAGK
DEFICIENCIA DE LIPOILTRANSFERASA 1LIPT1
DEFICIENCIA DE METILMALONATO SEMIALDEHÍDO DESHIDROGENASAALDH6A1
DEFICIENCIA EN 3-HIDROXI-ISOBUTIRIL-COA HIDROLASAHIBCH
DEFICIENCIA EN FRUCOSA 1,6 BIFOSFATASAFBP1
DEFICIENCIA EN FUMARASAFH
DEFICIENCIA EN PIRUVATO CARBOXILASAPC
DEFICIENCIA EN PROLIDASAPEPD
DEFICIENCIA MULTIPLE DE CARBOXILASASHLCS
DISPLASIAS ESQUELETICAS (62 GENES)ALPL, AMER1, ANKH, ATP6V0A2, BMP1, CA2, CASR, CDKN1C, CHST14, CLCN5, CLCN7, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COMP, CRTAP, CTSK, DMP1, ENPP1, FBN1, FGF23, FGFR3, FKBP10, FLNA, FUCA1, GALNS, GALNT3, GDF6, GLB1, GNAS, IDS, IDUA, IFITM5, LEMD3, LMX1B, LRP4, LRP5, PHEX, PLOD2, PPIB, PTH1R, ROR2, RUNX2, SERPINF1, SERPINH1, SGSH, SHOX, SLC34A3, SOST, SOX9, SP7, TCIRG1, TGFB1, TGFBR1, TGFBR2, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, WNT5A
ENFERMEDAD DE CANAVANASPA
ENFERMEDAD DE FABRYGLA
ENFERMEDAD DE GAUCHERGBA
ENFERMEDAD DE JARABE DE ARCE (5 GENES)BCKDHA, BCKDHB, DBT, DLD, PPM1K
ENFERMEDAD DE MENKESATP7A
ENFERMEDAD DE POMPEGAA
ENFERMEDAD DE SALLASLC17A5
ENFERMEDAD DE WILSONATP7B
GALACTOSEMIA (3 GENES)GALE, GALK1, GALT
GALACTOSIALIDOSISCTSA
GANGLIOSIDOSIS (4 GENES)GLB1, GM2A, HEXA, HEXB
HIPOCALCEMIA-HIPERCALCEMIA (3 GENES)AP2S1, CASR, GNA11
HIPERFENILALANINEMIA (7 GENES)DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SPR
HIPERGLICINEMIA NO CETOSICA (3 GENES)AMT, GCSH, GLDC
HIPEROXALURIA (3 GENES)AGXT, GRHPR, HOGA1
HIPOFOSFATASIA (DEFICIENCIA DE FOSFATA ALCALINA)ALPL
HOMOCISTINURIA (4 GENES)CBS, MTHFR, MTR, MTRR
INTOLERANCIA A LA FRUCTOSAALDOB
LISINURIA PROTEICASLC7A7
METABOLISMO CUERPOS CETONICOS (3 GENES)ACAT1, HMGCS2, OXCT1
MUCOLIPIDOSIS (2 GENES)GNPTG, MCOLN1
MUCOPOLISACARIDOSIS (10 GENES)ARSB, GALNS, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH
OLIGOSACARIDOSIS (6 GENES)AGA, FUCA1, MAN2B1, MANBA, NAGA, NEU1
OSTEOARTROPATIA HIPERTROFICA PRIMARIA (15 GENES)ANKH, CA2, CLCN7, COL1A1, CTSK, GALNT3, LEMD3, LRP4, LRP5, SOST, TCIRG1, TGFB1, TNFRSF11A,TNFRSF11B, TNFSF11
OSTEOGENESIS IMPERFECTA (19 GENES)BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, P3H1, PLOD2, PLS3, PPIB, SERPINF1, SEC24D, SERPINH1, SP7, SPARC, TMEM38B, WNT1, XYLT2
OSTEOPETROSIS (7 GENES)AMER1, CA2, CLCN7, LRP5, TCIRG1, TNFRSF11A, TNFSF11
POROQUERATOSISFDPS
PSEUDOXANTHOMA ELASTICUM (2 GENES)ABCC6, XYLT2
RAQUITISMO (11 GENES)CLCN5, CYP27B1, DMP1, ENPP1, FAM20C, FGFR1, FGF23, GNAS, PHEX, SLC34A3, VDR
SARCOSINEMIASARDH
SIALURIAGNE
SINDROME AICARDI-GOUTIERES (7 GENES)ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
SINDROME CARDIACO CONGENITO Y SINDROME DE MALFORMACIONES ESQUELETICASABL1
SINDROME DE CHANARIN-DORFMANABHD5
SINDROME DE GILBERTUGT1A1
SINDROME DE MARFAN (4 GENES)FBN1, TGFBR1, TGFBR2
SINDROME EHLERS-DANLOS (10 GENES)ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, TNXB, ZNF469
SINDROME KLIPPEL-FEIL (3 GENES)GDF3, GDF6, MEOX1
SINDROME LOEYS-DIETZ (5 GENES)SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
SINDROME ROBINOW (2 GENES)DVL1, WNT5A
SINDROME STICKLER / FIBROCONDROGÉNESIS (3 GENES)COL11A1, COL11A2, COL2A1
SINDROME WEILL-MARCHESANI (3 GENES)ADAMTS10, ADAMTS17, FBN1
TIROSINEMIA (3 GENES)FAH, HPD, TAT
SÍNDROME DE DEJERINE-SOTTAS (4 Genes)EGR2, MPZ, PMP22, PRX
NEUROPATÍAS Y ENFERMEDADES NEUROMUSCULARES (PANELES)ELA y ELP (29 Genes)ALS2, ANG, CCNF, CHCHD10, CHMP2B, DAO, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, HNRNPA2B1, HSPB1, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TAF15, TARDBP, TBK1, UBQLN2, VAPB, VCP
SUSCEPTIBILIDAD A ELA (7 Genes)DCTN1, KIF5A,  MTMR2, NEFH, NEK1, PLEKHG5, PRPH
ATROFIA MUSCULAR ESPINAL (9 Genes)ASAH1, ATP7A, BICD2, CHCHD10, DNAJB2, DYNC1H1, SIGMAR1, UBA1, VAPB
HIPOACUSIAS HEREDITARIAS (EXOMA DIRIGIDO)SÍNDROME BOR (BRANQUIO-OTO-RENAL) (3 GENES)EYA1, SIX1, SIX5
DETERIORO AUDITIVO NO SINDRÓMICO AUTOSÓMICO DOMINANTE (38 GENES)ACTG1, ATP6V1B2, CCDC50, CEACAM16, COCH, COL11A2, CRYM, GSDME, DIABLO, DIAPH1, DIAPH3, DSPP, EYA4, GJB2, GJB3, GJB6, GSDME, GRHL2, HOMER2, KCNQ4, KITLG, MIR96, MCM2, MYH14, MYH9, MYO6, MYO7A, NLRP3, OSBPL2, P2RX2, POU4F3, SIX1, SLC17A8, TBC1D24, TECTA, TJP2, TMC1, WFS1
DETERIORO AUDITIVO NO SINDRÓMICO AUTOSÓMICO RECESIVO (60 GENES)ADCY1, ATP2B2, BDP1, BSND, CABP2, CDH23, CIB2, CLDN14, COL11A2, DCDC2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, GIPC3, GJB2, GJB6, GPSM2, GRXCR1, GRXCR2, HGF, ILDR1, KARS, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOG, OTOGL, OTOA, OTOF, PCDH15, PJVK, PNPT1, PTPRQ, RIPOR2 , RDX, SERPINB6, SLC26A4, SLC26A5, STRC, SYNE4, TECTA, TBC1D24,TMC1, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WHRN
DETERIORO AUDITIVO NO SINDRÓMICO LIGADO AL X (5 GENES)AIFM1, COL4A6, POU3F4, PRPS1, SMPX
SÍNDROME ADCADNDNMT1
SÍNDROME DE ALPORT (3 GENES)COL4A3, COL4A4, COL4A5
SÍNDROME DE BARAITSER-WINTERACTB
SÍNDROME DE BARTTER (2 GENES)CLCNKA, CLCNKB
SÍNDROME DE BROWN-VIALETTO-VAN LAERE (2 GENES)SLC52A2, SLC52A3
SÍNDROME CAPOSATP1A3
SÍNDROME CHARGE (2 Genes)CHD7, SEMA3E
SÍNDROME DE ALSTROMALMS1
SÍNDROME DE DONNAI-BARROWLRP2
SÍNDROME EHLMRSSPATA5
SÍNDROME ESPÓNDILO-OCULAR CON FRAGILIDAD ÓSEA, CATARATAS Y DEFECTOS AUDITIVOSXYLT2
SÍNDROME HDRSGATA3
SÍNDROME DE LEOPARD (3 GENES)BRAF, PTPN11, RAF1
SÍNDROME DE MEDNIKAP1S1
SÍNDROME DE MEGDHELSERAC1
SÍNDROME DE MOHR-TRANEBJAERGTIMM8A
SÍNDROME DE PERRAULT (4 GENES)CLPP, HARS2, HSD17B4, LARS2
SÍNDROME PHARC (POLINEUROPATÍA-HIPOACUSIA-ATAXIA-RETINITIS PIGMENTOSA-CATARATAS)ABHD12
SÍNDROME DE STICKLER (6 GENES)COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3
SÍNDROME DE USHER (10 GENES)CLRN1, PDZD7, USH2A, ADGRV1, MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2
SÍNDROME DE WAARDENBURG (6 GENES)PAX3, MITF, EDNRB, EDN3, SOX10, SNAI2
SÍNDROME DE WOLFRAM (2 GENES)CISD2, WFS1
SÍNDROME DE WOODHOUSE-SAKATIDCAF17
SÍNDROME DE AYME-GRIPPMAF
TRASTORNO DE LA BIOGÉNESIS PEROXISOMAL (5 GENES)PEX2, PEX26, PEX3, PEX5, PEX6
NEUROPATÍAS HEREDITARIAS (EXOMA DIRIGIDO)Amiloidosis familiarAPOA1, APOA2, APP, B2M, CST3, F10, FGA, GPNMB, GSN, IL31RA, ITM2B, LYZ, MEFV, NLRP3, OSMR, PRNP, RET, TACSTD2, TGFBI, TNFRSF1A, TTR
Amiloidosis hereditaria por transtiretinaTTR
Ataxia ampliadaAAAS, AARS2, ABCB7, ABCD1, ABHD12, ACO2, ADGRG1, ADPRS, AFG3L2, AGTPBP1, AHI1, ALDH5A1, ALG6, ALG8, AMACR, AMPD2, ANO10, AP5Z1, APTX, ARL13B, ARL3, ARL6, ARMC9, ARSA, ASL, ATCAY, ATG5, ATM, ATP1A3, ATP2B3, ATP7B, ATP8A2, AUH, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHB, BCS1L, BEAN1, BTD, C12ORF4, C12ORF65, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CASK, CAV1, CC2D2A, CCDC88C, CEP104, CEP120, CEP290, CEP41, CHCHD10, CHMP1A, CHP1, CLCN2, CLN3, CLN5, CLN6, CLN8, CLPP, COA7, COA8, COASY, COG8, COQ5, COQ8A, COQ9, COX14, COX20, COX6B1, CP, CPLANE1, CPS1, CSPP1, CSTB, CTBP1, CTC1, CTDP1, CTSD, CTSF, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAB1, DARS2, DBT, DDHD2, DLAT, DLD, DNAJC19, DNAJC3, DNAJC5, DNMT1, DOCK3, EBF3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EP300, EPM2A, ERCC2, ERCC4, ERCC5, ERCC6, EXOSC3, FA2HOSC8, FASTKD2, FAT1, FAT2, FBXL4, FDXR, FGF12, FGF14, FLVCR1, FMR1, FOLR1, FOXRED1, FTL, FXN, GALC, GAMT, GAN, GBA, GBA2, GCH1, GDAP2, GFAP, GJB1, GJC2, GLB1, GLRX5, GMPPB, GOSR2, GPAA1, GRID2, GRM1, GRN, GSS, HARS2, HCN1, HEPACAM, HEXA, HEXB, HIBCH, HOXD13, HSD17B4, IFRD1, INPP5E, IRF2BPL, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCTD7, KIAA0556, KIAA0586, KIF1A, KIF1C, KIF26B, KIF7, KLC2, L2HGDH, LAMA1, LARS2, LMNB1, LMNB2, LRPPRC, MAN2B1, MARS2, MECP2, MECR, MFSD8 MGME1, MKKS, MKS1, MLC1, MMACHC, MMADHC, MME, MPV17, MRE11, MSTO1, MTCL1, MTFMT, MTPAP, MTTP, MVK, NBN, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NFASC, NFU1, NHLRC1, NKX2-1, NKX6-2, NOL3, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPA3, OPHN1, OTC, PANK2, PAX6, PCDH12, PCNA, PDE6D, PDHA1, PDHX, PDYN, PEX10, PEX16, PEX2, PEX6, PEX7, PHYH, PIBF1, PIK3R5, PLA2G6, PLD3, PLEKHG4, PLP1, PMM2, PMPCA, PNKD, PNKP, PNPLA6, POLG, POLR1C, POLR3A, POLR3B, PPT1, PRF1, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PRX, PSEN1, PTF1A, PTRH2, PTS, PUM1, RARS1, RARS2, RFC1, RNF170, RNF216, RPGRIP1L, RRM2B, RTN4IP1, RUBCN, SACS, SAMD9L, SCN1A, SCN2A, SCN8A, SCO1, SCYL1, SDHA, SDHAF1, SEPSECS, SERAC1, SETX, SIL1, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC20A2, SLC25A15, SLC25A46, SLC30A1, SLC25A46 SLC33A1, SLC35A1, SLC35A2, SLC46A1, SLC52A2, SLC52A3, SLC6A1, SLC6A19, SLC9A1, SLC9A6, SMPD1, SNAP25, SNX14, SOD1, SPG11, SPG7, SPR, SPTBN2, SQSTM1, SRD5A3, STUB1, SUFUX, SUMF1, SUMF1, SYNE1, SYT14, TACO1, TANGO2, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TGM6, TH, THG1L, TIMM8A, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPK1, TPP1, TRIM32, NT TRIO,1, TRPC3, TSEN15, TSEN2, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTPA, TTR, TUBB2A, TUBB4A, TWNK, TXN2, UBA5, UBE3A, UBTF, UCHL1, UQCRQ, VAMP1, VARS2, VLDLR, VPS13D, VRK1, VWA3B, WDPCP, WDR73, WDR81, WFS1, WWOX, XPA, XRCC1, ZFYVE26, ZNF423, ZNF592
Ataxia autosómica dominanteAFG3L2, ATP1A3, CACNA1A, CACNA1G, CACNB4, CAMTA1, CCDC88C, DAB1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, GRM1, ITPR1, KCNA1, KCNC3, KCND3, MME, PDYN, PLD3, PRKCG, PUM1, SLC1A3, SPTBN2 STUB1, TGM6, TMEM240, TRPC3, TTBK2, VAMP1
Ataxia autosómica recesivaABHD12, AFG3L2, ANO10, APTX, ATCAY, ATG5, ATM, ATP8A2, CA8, CAPN1, CLCN2, COA7, COQ8A, COX20, CP, CWF19L1, CYP27A1, CYP7B1, DARS2, DNAJC19, FXN, GBA2, GDAP2, GJC2, GOSR2, GRID2, GRM1, GRN, HEXA, HEXB, ITPR1, KCNJ10, KIF1C, L2HGDH, MARS2, MRE11, MTPAP, NKX6-2, PEX10, PLA2G6, PMPCA, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRICKLE1, RNF216, SACS, SCYL1, SETX, SIL1, SLC9A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TDP2, TPP1, TTPA, TWNK, UBA5, UCHL1, VLDLR, VPS13D, VWA3B, WDR73, WDR81, WWOX, XRCC1
Ataxia con apraxia oculomotoraAPTX, COA7, PIK3R5, PNKP, SETX, TDP1
Ataxia episódicaATP1A3, CACNA1A, CACNB4, FGF14, KCNA1, PRRT2, SCN2A, SLC1A3, SLC2A1
Ataxia espinocerebelosaABHD12, AFG3L2, ANO10, APTX, ATCAY, ATG5, ATM, BEAN1, CA8, CACNA1A, CACNA1G, CAPN1, CCDC88C, CLCN2, COA7, COQ8A, COX20, CWF19L1, CYP27A1, CYP7B1, DAB1, DARS2, DNAJC19, DNMT1, EEF2, ELOVL4, ELOVL5, FAT2, FGF14, FXN, GBA2, GDAP2, GJC2, GOSR2, GRID2, GRM1, GRN, ITPR1, KCNC3, KCND3, KCNJ10, KIF1C, L2HGDH, MME, MRE11, MTPAP, PDYN, PEX10, PLD3, PMPCA, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRKCG, PUM1, RNF216, RUBCN, SACS, SCYL1, SETX, SIL1, SLC9A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TDP2, TGM6, TMEM240, TPP1, TRPC3, TTBK2, TTPA, TWNK, UBA5, UCHL1, VLDLR, VPS13D, VWA3B, WDR73, WDR81, WWOX, XRCC1
CADASILNOTCH3
CARASILHTRA1
Canalopatías neurológicasADCY5, ARHGEF9, ARX, ATN1, ATP1A2, ATP1A3, ATP2A1, ATP7B, BEST1, CACNA1A, CACNA1D, CACNA1F, CACNA1H, CACNA1S, CACNB4, CAV3, CDKL5, CHRNA1, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CLCN1, CLCN2, CNGA1, CNGA3, CNGB1, CNGB3, DMPK, GAA, GABRA1, GABRA6, GABRB2, GABRB3, GABRD, GABRG2, GBE1, GLRA1, GLRB, GRIN2D, HINT1, HSPG2, HTT, KCNA1, KCNA2, KCNC3, KCNE3, KCNJ10, KCNJ18, KCNJ2, KCNJ5, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCNQ4, KCNT1, MCOLN1, NKX2-1, PCDH19, PIGA, PLCB1, PNKD, PNKP, PRRT2, RYR1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SLC12A3, SLC1A3, SLC25A22, SLC2A1, SLC6A5, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, TBC1D24, TRPA1, TRPM1, TRPV4
Cavernomatosis cerebralCCM2, KRIT1, PDCD10, RASA1
Charcot-Marie-ToothAARS1, ABHD12, ADCY6, AFG3L2, AGTPBP1, AHNAK2, AIFM1, AMACR, ARHGEF10, ATAD3A, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, C12ORF65, C1ORF194, CCT5, CHCHD10, CLTCL1, CNTNAP1, COA7, COL6A5, COX10, COX6A1, CTDP1, DCAF8, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GLE1, GNB4, GNE, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS1, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14, MYOT, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PIEZO2, PLEKHG5, PMP2, PMP22, PNKP, POLG, PRDM12, PRNP, PRPS1, PRX, PTRH2, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMAD3, SORD, SPAST, SPG11, SPTBN4, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, TUBB3, TYMP, UBA1, VCP, VRK1, VWA1, WARS1, WNK1, YARS1, ZFYVE26
ConectivopatíasABCC6, ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BGN, BMP1, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, GORAB, HDAC4, LOX, LTBP4, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PLOD2, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, VPS13B, ZNF469
Corea hereditariaADCY5, ATM, ATP7B, C19ORF12, CP, DCAF17, FRRS1L, FTL, GM2A, GNAO1, HPRT1, KCNA1, NKX2-1, NUP62, OPA3, PANK2, PDE10A, PDE8B, PDGFRB, PLA2G6, PRNP, RNF216, SLC20A2, SLC2A1, VAC14, VPS13A, XK
Demencia frontotemporalCCNF, CHCHD10, CHMP2B, CTSF, CYP27A1, DCTN1, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, MATR3, OPTN, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, VCP
Discinesias paroxísticasADCY5, ATP1A2, ATP1A3, CACNA1A, CACNB4, DEPDC5, DLAT, FGF14, GCH1, GLRA1, GLRB, KCNA1, KCNMA1, KCNQ2, KMT2B, MECR, PDHA1, PNKD, PRRT2, SCN1A, SCN8A, SCN9A, SLC1A3, SLC2A1, SLC6A5
DistoníaACAT1, ACTB, ADAR, ADCY5, AFG3L2, ALS2, ANO3, APTX, ARSA, ARX, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, BCAP31, C19ORF12, CACNA1A, CACNA1B, CAMK4, CHMP2B, CIZ1, COL6A3, COX10, COX15, COX20, CP, CYP27A1, DCAF17, DDC, DLAT, DNAJC12, DNAJC6, EARS2, ECHS1, FA2H, FBXO7, FOXG1, FOXRED1, FTL, GCDH, GCH1, GLB1, GNAL, GNAO1, GNB1, HEXA, HPCA, HPRT1, KCNMA1, KCNQ2, KCTD17, KIF1C, KMT2B, L2HGDH, LIPT1, MAT1A, MCOLN1, MECP2, MECR, MMADHC, MMUT, MPV17, NDUFA10, NDUFA2, NDUFA9, NDUFS3, NDUFS4, NDUFS8, NKX2-1, NPC1, NPC2, NUP62, PANK2, PCCA, PCCB, PDE10A, PDGFB, PDGFRB, PDHA1, PDHX, PINK1, PLA2G6, PLEKHG2, PLP1, PNKD, PNKP, POLG, POLR3A, POLR3B, PRKN, PRKRA, PRRT2, PSEN1, PTS, QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SCN8A, SCP2, SDHA, SDHAF1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SLC6A8, SPR, SUCLA2, SUOX, SURF1, SYNJ1, TH, THAP1, TIMM8A, TOR1A, TPI1, TPK1, TREX1, TTC19, TUBB4A, UQCRQ, VAC14, VPS13A, WDR45
Distrofia muscular de Emery-DreifussEMD, FHL1, LMNA, SUN1, SUN2, SYNE1, SYNE2, TMEM43, TTN
Distrofia muscular de cinturasANO5, BVES, CAPN3, CAV3, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DES, DMD, DNAJB6, DOK7, DPM3, DYSF, FKRP, FKTN, GAA, GMPPB, HNRNPDL, KBTBD13, LAMA2, LIMS2, LMNA, MYOT, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PYROXD1, SGCA, SGCB, SGCD, SGCG, SRPK3, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VCP
Distrofia muscular y miopatías estructuralesACTA1, ACTN2, ADSS1, AGL, AGRN, ALG13, ANO5, ATP2A1, B3GALNT2, B3GNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, CACNA1H, CACNA1S, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHKB, CLN3, CNTN1, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CRPPA, CRYAB, DAG1, DES, DMD, DNA2, DNAJB5, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FAT1, FHL1, FHL2, FKBP14, FKRP, FKTN, FLNC, FXR1, GAA, GBE1, GMPPB, GNE, GOLGA2, GOSR2, HACD1, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, HSPB1, HSPB8, INPP5K, ITGA7, ITGA9, KBTBD13, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, MAP3K20, MATR3, MB, MEGF10, MICU1, MSTN, MTM1, MTMR14, MYH14, MYH2, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOT, MYPN, NEB, ORAI1, PABPN1, PAX7, PHKA1, PLEC, PMM2, PNPLA2, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PTRH2, PYROXD1, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SMCHD1, SPEG, SPTBN4, SQSTM1, SRPK3, STAC3, STIM1, SUN1, SUN2, SYNE1, SYNE2, TCAP, TIA1, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM54, TRIM63, TRIP4, TRPV4, TTN, UBA1, VCP, VMA21, VPS13A, VRK1, XK
Encefalopatías epilépticasAARS1, ABAT, ACADS, ACTL6B, ACY1, ADAM22, ADAR, ADPRS, ADSL, AGO4, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARFGEF2, ARHGEF15, ARHGEF9, ARV1, ARX, ASNS, ATP6V1A, BOLA3, BRAT1, BTBD9, CACNA1A, CACNA1B, CACNA1E, CACNA1H, CACNA1I, CACNA2D2, CAD, CARS2, CASK, CDH13, CDH2, CDKL5, CHD2, CHD4, CHRNA2, CHRNA4, CHRNA5, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLTC, CNKSR2, CNPY3, CNTN5, CNTNAP2, COA8, COQ4, COX6B1, CPLX1, CPT2, CSTB, CUX2, CYFIP2, D2HGDH, DCX, DENND5A, DEPDC5, DNAJC6, DNM1, DNM1L, DOCK7, DOK5, ECHS1, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, ETHE1, FAR1, FARS2, FASN, FGF12, FLNA, FOLR1, FOXG1, FOXP2, FRRS1L, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GCSH, GLDC, GLS, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRIN2D, GTPBP3, GUF1, HCN1, HECW2, HEPACAM, HERC2, HIBCH, HNRNPH1, HNRNPU, HTT, IER3IP1, IQSEC1, IQSEC2, ITPA, KCNA2, KCNB1, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KIF1A, LAMA2, LGI1, LRPPRC, LYRM7, MAGI2, MAPK10, MBD5, MDGA2, MDH2, MECP2, MED17, MEF2C, MLC1, MOCS1, MRPL44, MTFMT, MTHFR, MTOR, NACC1, NDUFAF6, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEUROD2, NHLRC1, NR2F1, NRXN1, NTNG1, NTRK2, NUBPL, PACS2, PARS2, PCDH19, PHACTR1, PIGA, PIGB, PIGO, PIGP, PIGQ, PIGS, PIK3AP1, PLAA, PLCB1, PLP1, PLPBP, PNKP, PNPO, POLG, PPP3CA, PPT1, PRRT2, PTEN, PTPN23, PURA, QARS1, RANGAP1, RELN, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNF13, ROGDI, RYR3, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SDHAF1, SERAC1, SERPINI1, SHANK3, SHROOM4, SIK1, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A1, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC39A13, SLC6A1, SLC6A8, SLC9A6, SMC1A, SNAP25, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STX1B, STXBP1, SYN1, SYNGAP1, SYNJ1, SYT2, SZT2, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TCF4, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TTC19, TWNK, UBA5, UBE3A, UNC80, VARS1, WAC, WARS2, WDR45, WWOX, YWHAG, ZBTB18, ZEB2
Enfermedad de Alzheimer y otras demenciasABCA7, APOE, APP, ARSA, ATP13A2, ATP7B, CCNF, CHCHD10, CHMP2B, CSF1R, CTSF, CYP27A1, DCTN1, DNAJC5, DNMT1, FUS, GBA, GRN, HNRNPA1, HNRNPA2B1, HTRA1, ITM2B, LRRK2, MAPT, MATR3, NOTCH3, NPC1, NPC2, OPTN, PINK1, PLA2G6, PRKAR1B, PRNP, PSEN1, PSEN2, RNF216, SERPINI1, SNCA, SNCB, SORL1, SPG21, SQSTM1, TARDBP, TBK1, TIMM8A, TREM2, TREX1, TUBA4A, TYROBP, UBQLN2, VCP
Enfermedad de Parkinson y trastornos relacionadosATP13A2, ATP1A3, ATP6AP2, CHCHD2, CSF1R, DCTN1, DNAJC12, DNAJC6, FBXO7, FTL, GBA, GCH1, LRRK2, LYST, MAPT, NUS1, OPA1, PARK7, PINK1, PLA2G6, POLG, PRKN, PTRHD1, RAB39B, SLC6A3, SNCA, SNCB, SPG11, SYNJ1, TWNK, VPS13C, VPS35
Enfermedades neuromuscularesAAAS, AARS1, AARS2, ABCC9, ABCD1, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACO2, ACTA1, ACTN2, ADCY6, ADGRG6, ADSS1, AFG3L2, AGK, AGL, AGRN, AGTPBP1, AHNAK2, AIFM1, ALDOA, ALG13, ALG14, ALG2, ALG3, AMACR, AMPD1, ANO5, ANTXR2, APTX, ARHGEF10, ARL6IP1, ARX, ASAH1, ASCC1, ATAD1, ATAD3A, ATL1, ATL3, ATP1A1, ATP1A2, ATP2A1, ATP7A, B3GALNT2, B3GNT2, B4GAT1, BAG3, BCS1L, BICD2, BIN1, BSCL2, BVES, C12ORF65, C1ORF194, C1QBP, CACNA1E, CACNA1H, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CCT5, CDK5, CFL2, CHAT, CHCHD10, CHKB, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CLCN1, CLN3, CLTCL1, CNTN1, CNTNAP1, COA7, COG8, COL12A1, COL13A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL6A5, COLQ, COQ2, COQ8A, COQ9, COX10, COX15, COX6A1, COX6A2, CPT1A, CPT2, CRPPA, CRYAB, CTDP1, CYP27A1, DAG1, DCAF8, DCTN1, DCTN2, DDX20, DES, DGAT2, DGUOK, DHCR24, DHTKD1, DMD, DNA2, DNAJB2, DNAJB4, DNAJB5, DNAJB6, DNM1L, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DRP2, DST, DYNC1H1, DYSF, EARS2, ECEL1, ECHS1, EGR2, ELP1, EMD, EMILIN1, ENO3, ERBB3, ERCC1, ERCC5, ERCC6, ERGIC1, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, FAM111B, FARS2, FASTKD2, FAT1, FBLN5, FBN1, FBN2, FBXL4, FBXO38, FDX2, FDXR, FGD4, FHL1, FHL2, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNC, FLRT1, FLVCR1, FLVCR2, FOXRED1, FXN, FXR1, G6PC, GAA, GAN, GARS1, GATM, GBA, GBE1, GDAP1, GEMIN2, GFER, GFM1, GFPT1, GJB1, GJB3, GLA, GLDN, GLE1, GLRA1, GM2A, GMPPB, GNB4, GNE, GOLGA2, GOSR2, GSN, GTF2H2, GYG1, GYS1, HACD1, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HNRNPA1, HNRNPA2B1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HSPG2, IARS2, IGHMBP2, INF2, INPP5K, ISCU, ISLR2, ITGA7, ITGA9, JPH1, KARS1, KAT6B, KBTBD13, KCNA1, KCNE3, KCNJ18, KCNJ2, KCNJ5, KIAA1109, KIF14, KIF1A, KIF1B, KIF5A, KIF5C, KLHL24, KLHL40, KLHL41, KLHL9, KY, L1CAM, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LAS1L, LDB3, LDHA, LGI4, LIMS2, LIPT1, LITAF, LMNA, LMOD3, LPIN1, LRP4, LRPPRC, LRSAM1, MAGEL2, MAP3K20, MARS1, MATR3, MB, MCM3AP, MED25, MEGF10, MET, MFN2, MGME1, MICU1, MMD2, MME, MORC2, MPV17, MPZ, MSTN, MSTO1, MTM1, MTMR14, MTMR2, MTO1, MTTP, MUSK, MYBPC1, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NAGLU, NAIP, NALCN, NDRG1, NDUFA9, NDUFAF6, NDUFS4, NEB, NEFH, NEFL, NEK9, NGF, NMNAT2, NTRK1, NUP88, OPA1, OPA3, ORAI1, PABPN1, PAX7, PDHA1, PDHB, PDHX, PDK3, PDXK, PET100, PEX7, PFKM, PGAM1, PGAM2, PGK1, PGM1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PI4KA, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD2, PLP1, PLS3, PMM2, PMP2, PMP22, PNKP, PNPLA2, PNPLA8, PNPT1, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP3CA, PRDM12, PREPL, PRKAG2, PRNP, PRPS1, PRX, PSAT1, PTRH2, PUS1, PYGM, PYROXD1, RAB7A, RAPSN, RAX2, RBCK1, RBM7, REEP1, RETREG1, RIPK4, RNASEH1, RPH3A, RRM2B, RTN4IP1, RXYLT1, RYR1, RYR3, SACS, SBF1, SBF2, SCARF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDHA, SDHAF1, SELENON, SEPTIN9, SERF1A, SETX, SGCA, SGCB, SGCD, SGCG, SGPL1, SH3TC2, SIGMAR1, SIL1, SKI, SLC12A3, SLC12A6, SLC16A1, SLC16A2, SLC18A3, SLC19A3, SLC22A5, SLC25A1, SLC25A20, SLC25A21, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SLC25A46, SLC35A3, SLC39A13, SLC52A2, SLC52A3, SLC5A2, SLC5A7, SLC6A8, SLC6A9, SLC9A3R1, SMAD3, SMCHD1, SMN1, SMN2, SNAP25, SORD, SOX10, SPAST, SPEG, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRPK3, STAC3, STIM1, SUCLA2, SUCLG1, SUN1, SUN2, SURF1, SYNE1, SYNE2, SYT2, TACO1, TANGO2, TAZ, TBCE, TCAP, TECPR2, TFG, TGFB3, TIA1, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM43, TMEM65, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TRA2B, TRAPPC11, TRIM2, TRIM32, TRIM54, TRIM63, TRIP4, TRPA1, TRPV4, TSEN54, TSFM, TTC19, TTN, TTR, TUBB2A, TUBB2B, TUBB3, TWNK, TYMP, UBA1, UBA5, UNC13B, UNC50, VAMP1, VAPB, VCP, VIPAS39, VMA21, VPS13A, VPS33B, VRK1, VWA1, WARS1, WFS1, WNK1, XK, YARS1, YARS2, ZBTB42, ZC4H2, ZFHX2, ZFYVE26, ZMPSTE24, ZPR1
Epilepsia mioclónicaADRA2B, AFG3L2, ASAH1, ATP13A2, BRAT1, CACNB4, CERS1, CILK1, CLCN2, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DHDDS, DNAJC5, EFHC1, EPM2A, FARS2, FOLR1, GABRA1, GABRB2, GABRD, GBA, GOSR2, GRN, IRF2BPL, KCNC1, KCNQ3, KCTD7, LMNB2, MFSD8, NEU1, NHLRC1, PDHA1, POLG, PPT1, PRDM8, PRICKLE1, SAMD12, SCARB2, SERPINI1, SLC6A1, SNX27, SURF1, TBC1D24, TPK1, TPP1
Esclerosis lateral amiotrófica y demencia frontotemporalCCNF, CHCHD10, CHMP2B, DCTN1, FUS, HNRNPA1, HNRNPA2B1, MATR3, OPTN, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VCP
Leucodistrofia y otras leucoencefalopatíasAARS2, ABAT, ABCD1, ACER3, ACOX1, ADAR, AIFM1, AIMP1, AIMP2, ALDH3A2, APP, ARSA, ASPA, AUH, B3GALNT2, BCAP31, BEST1, CBS, CLCN2, CLN5, CLN6, CLN8, COA8, COL4A1, COL4A2, COX15, CSF1R, CST3, CTC1, CTSA, CTSD, CYP27A1, DAG1, DARS1, DARS2, DEGS1, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPRS1, ERCC2, ERCC3, ERCC6, ERCC8, FA2H, FAM126A, FBXL4, FOLR1, FOXRED1, FUCA1, GALC, GALT, GAN, GBE1, GFAP, GJA1, GJB1, GJC2, GLA, GLB1, GM2A, GRN, GSN, GTF2H5, HEPACAM, HEXA, HEXB, HIKESHI, HSD17B4, HSPD1, HTRA1, IBA57, IFIH1, ISCA2, ITM2B, KARS1, KCNT1, KCTD7, L2HGDH, LAMA2, LARS2, LMNB1, LYRM7, MAG, MARS2, MCOLN1, MFSD8, MLC1, MPLKIP, MPV17, MTHFR, NAXE, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NKX6-2, NOTCH3, NUBPL, PAH, PC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLG, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, PPT1, PSAP, PTEN, PYCR2, RARS1, RARS2, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF216, RPIA, SAMHD1, SCP2, SDHA, SDHAF1, SDHB, SDHD, SLC16A2, SLC17A5, SLC25A12, SOX10, SUMF1, TMEM106B, TPP1, TREM2, TREX1, TUBB4A, TYMP, TYROBP, UFM1, VPS11
Migraña hemipléjica familiarACVRL1, ALPK1, AMACR, APP, ATP1A2, ATP1A3, CACNA1A, CCM2, CSNK1D, ENG, GDF2, KCNK6, KRIT1, NOTCH3, PDCD10, PDGFB, PEX11B, PGK1, PNKD, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1, SLC4A4, SMAD4, STIM1, TREX1
Miopatías distalesACTN2, ADSS1, AGL, ANO5, BVES, CAPN3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, EMD, FHL1, FLNC, GAA, GBE1, GNE, HSPB1, HSPB8, KLHL9, KY, LAMP2, LDB3, LMNA, MATR3, MMD2, MYH7, MYOT, NEB, PHKA1, PNPLA2, PYROXD1, SELENON, SQSTM1, TCAP, TIA1, TRPV4, TTN, VCP
Neurodegeneración con acúmulo cerebral de hierro (NBIAS)AP4S1, ATP13A2, C19ORF12, COASY, CP, CRAT, DCAF17, DDHD1, FA2H, FTL, GTPBP2, PANK2, PLA2G6, REPS1, SCP2, TBCE, WDR45
Paraparesia espásticaAAAS, ABCD1, ACOX1, ADAR, AFG3L2, AGTPBP1, AIMP1, ALDH18A1, ALDH3A2, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2B4, B4GALNT1, BICD2, BSCL2, BTD, C12ORF65, C19ORF12, CACNA1G, CAPN1, CCT5, CHP1, COASY, CPT1C, CSF1R, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DARS2, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, FLRT1, FXN, GAD1, GALC, GAN, GBA2, GBE1, GCH1, GFAP, GJC2, GLRX5, GPT2, GRID2, HACE1, HEXA, HSPD1, IBA57, IFIH1, IRF2BPL, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, L2HGDH, MAG, MARS1, MARS2, MTPAP, NFU1, NIPA1, NKX6-2, NT5C2, OPA3, PAH, PCYT2, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, PSEN1, RAB3GAP2, RARS1, REEP1, REEP2, RNASEH2B, RTN2, SACS, SELENOI, SETX, SLC16A2, SLC1A4, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SPR, TECPR2, TFG, TH, TLR2, TTR, TUBB4A, UBAP1, UCHL1, USP8, VAMP1, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27
SchwannomatosisCABIN1, COQ6, LZTR1, NF2, PRKAR1A, SMARCB1, SMARCE1, SUFU
Síndrome de Ehlers-DanlosADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469
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