Neurology

Neurology

Genetic studies can help to correctly diagnose patients with hereditary neurological diseases such as movement disorders, neuromuscular disorders, intellectual disability or epilepsy, among others.
Clinical areas
Broader studies
Documentation
Accepted samples
  • EDTA blood (1x 5 ml)
  • Saliva (specific Isohelix kit)
  • Buccal exudate (2x sterile isopes)
  • Isolated DNA (>30 ng/μl in >100 μl TE buffer)

Remember to label each sample with the patient's first and last name or with the identifier used on the request form.

Movement disorders

The term 'movement disorders' refers to a group of nervous system conditions that cause an increase in abnormal movements, which may be voluntary or involuntary. Movement disorders can also cause slow or reduced movements. We offer the study of the main movement disorders such as dystonia and Parkinson's disease.

Studies included
Parkinson's disease
ATP13A2, COQ2, DNAJC6, FBXO7, GBA, LRRK2, MAPT, PARK7 (DJ1), PINK1, PRKN, PODXL, SLC6A3, SNCA, SYNJ1, VPS13C, VPS35.
GBA, LRRK2, PARK7 (DJ1), PINK1, PRKN, SNCA, VPS13C, VPS35.
ATP13A2,DJ1, DNAJC6, FBXO7, GBA, PINK1, PODXL, PRKN, SLC6A3, SYNJ1, VPS13C.
Parkinsonian disorders

ATP6AP2, COQ2, DCTN1, GCH1, LRRK2, LYST, MAPT, NUS1, OPA1, PLA2G6, PTRHD1, RAB39B, SPG11, TWNK, ZFYVE26, SYNJ1, VPS13C.

Dystonia
ANO3, ADAR, ARSA, ATN1, ATP13A2, ATP1A3, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, ECHS1, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GNAL, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, KMT2B, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKN, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SPR, SUCLA2, TAF1, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TUBB4, VPS13A, WDR45, XK, XPR1.
ANO3, GNAL, KMT2B, THAP1, TOR1A, TUBB4.
ATP1A3, GCH1, SPR, TAF1, TH.
SGCE.
ECHS1, PNKD, PRRT2, SLC2A1.
ADAR, ARSA, ATN1, ATP13A2, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GLB1, GM2A, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PARK2, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1 POLG, PPT1, PRKN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SLC19A3, SLC20A2, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SUCLA2, TIMM8A, TPP1, TREX1, VPS13A, WDR45, XK, XPR1.
Information

Dementia

Dementia is an umbrella term that describes a wide range of symptoms associated with memory impairement and other thinking skills, leading to a reduction in a person's ability to carry out daily activities. Alzheimer's disease accounts for 60-80% of cases. The study of genes associated with different types of dementia is included.

Studies included
APP, APOE (e4 allele), C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP.
APP, APOE (e4 allele), C9orf72, GRN, MAPT, PSEN1, PSEN2, TREM2.
MAPT, PSEN1, PSEN2, TREM2.
C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP.
Information

Neuromuscular diseases

Neuromuscular diseases are a group of more than 150 progressive and chronic neurological conditions, mostly of genetic origin, which cause loss of muscle strength and associated muscle and nerve degeneration. Through the different panels we address the study of various neuromuscular diseases such as neuropathies, myopathies and muscular dystrophies, diseases with motor neuron involvement and myasthenic syndromes as well as other syndromes with hypotonia, myotonia and/or weakness.

Studies included
Motor neurone disease
AGTPBP1, ALS2, ANG, ANXA11, ATXN2, AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, C9ORF72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, DES, DNAJB2, DYNC1H1, EPHA4, ERBB4, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, FUS, GARS1, GLE1, GLT8D1, HNRNPA1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, MATR3, MOBP, MYH14, NAIP, NEFH,NEK1, OPTN, PFN1, PLEKHG5, PON1, PON2, PON3, PPARGC1A, PRPH, REEP1, SCFD1, SEPSECS SETX, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBCE, TBK1, TREM2, TRIP4, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TUBA4A, UBA1, UBQLN2, UNC13A, VAPB, VCP, VRK1, VWA1.
ALS2, ANG, ANXA11, ATXN2, C9orf72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, EPHA4, ERBB4, FIG4, FUS, GLE1, GLT8D1, HNRNPA1, MATR3, MOBP, NEFH,NEK1, OPTN, PFN1, PON1, PON2, PON3, PPARGC1A, PRPH, SCFD1, SETX, SIGMAR1, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, UNC13A, VAPB, VCP.
SMN1, SMN2.
C9ORF72, CHCHD10, FUS, SQSTM1, TARDBP, TBK1, VCP.
Neuropathies
AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, AP1S1, APOA1, APTX, AR, ARHGEF10, ARSA, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CD59, CHCHD10, CLCF1, CNTNAP1, COA7, COX10, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, DARS2, DCTN1, DCTN2, DCAF8, DGAT2, DEGS1, DHTKD1, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, ETFDH, FAH, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FLRT1, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXB, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, IARS2, IBA57, IGHMBP2, INF2, JPH1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDRG1, NEFH, NEFL, NGF, NOD2, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTRH2, RAB7A, RAI1, REEP1, RETREG1, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SOX5, SOX10, SPAST, SPTAN1, SPG11, SPG7, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XRCC1, YARS1, ZFYVE26.
AARS1, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CNTNAP1, COA7, COX6A1, CTDP1, DCTN1, DCTN2, DCAF8, DGAT2, DHTKD1, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FBXO38, FGD4, FIG4, FLRT1,FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IBA57, IGHMBP2, INF2, KARS1, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, NAGLU, NDRG1, NEFH, NEFL OPA1, PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, RAI1, SBF1, SBF2, SCO2, SCYL1,SETX, SH3TC2, SIGMAR1, SGPL1, SLC12A6, , SLC25A46, SLC52A2, SLC52A3, , SORD, SOX5, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1.
AARS, AGTPBP1, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, FBXO38, GARS, GSN, HARS, HEXB, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, MFN2, MORC2, PLEKHG5, REEP1, SETX, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SPTAN1, SYT2, TFG, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS1.
ATL1, ATL3, DNMT1, DST, RETREG1, ELP1, KIF1A, NGF, NTRK1, PRDM12, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK.
Congenital Myasthenia
AGRN, AK9, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DES, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MACF1, MUSK, MYO9A, PLEC, PREPL, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1.
Myopathies
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, ANO5, B3GALNT2, B4GAT1, BCS1L, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAVIN1, CCDC174, CCDC78, CFL2, CHCHD10, CHKB, CNBP, CNTN1, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DMPK, DNA2, DNAJB6, DNM2, DNMT3B, DPM2, DPM3, DUX4, DYSF, EARS2, ECHS1, EMD, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FHL1, FKRP, FKTN, FLAD1, FLNC, FOXRED1, FRG1, GAA, GBE1, GFER, GIPC1, GMPPB, GNE, GYG1, GYS1, HACD1, HADHA, HADHB, HNRNPDL, HSPG2, ISCU, ITGA7, KIF21A, KLHL40, KLHL41, LAMA2, LARGE1, LDB3, LDHA, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LTBP4, MAMLD1, MAP3K20, MATR3, MGME1, MICU1, MSTO1, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYOT, MYPN, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NUBPL, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2A, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SDHA, SDHAF1, SDHB, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SLC16A1, SLC22A5, SLC25A32, SMCHD1, SPEG, STAC3, STIM1, SYNE1, SYNE2, TAZ, TCAP, TIA1, TIMMDC1, TK2, TMEM126B, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, TWNK, TYMP, VMA21, YARS2.
ACTA1, ANO5, B3GALNT2, B4GAT1, BVES, CAPN3, CHKB, CNBP, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DMPK, DNAJB6, DNMT3B, DPM2, DPM3, DUX4, DYSF, EMD, FHL1, FKRP, FKTN, FRG1, GIPC1, GMPPB, HNRNPDL, HSPG2, ITGA7, KIF21A, LAMA2, LARGE1, LIMS2, LMNA, LTBP4, MYH7, MYOT, NOTCH2NLC, PABPN1, PHOX2A, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, VMA21.
DNMT3B, DUX4, FHL1, FRG1, MYH7, SMCHD1.
DMD, LTBP4.
ANO5, BVES, CAPN3, CRPPA, DAG1, DNAJB6, DYSF, FKRP, FKTN, GMPPB, HNRNPDL, LIMS2, MYOT, PLEC, POGLUT1, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN.
PABPN1.
EMD, FHL1, LMNA, SYNE1, SYNE2, TMEM43, TTN.
CNBP, DMPK.
ANO5, CAV3, CRYAB, DES, DNAJB6, DYSF, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, NEB, TIA1, TCAP, TTN.
ACTA1, BIN1, CASQ1, CCDC174, CCDC78, CFL2, CNTN1, DNM2, FHL1, HACD1, ITGA7, KLHL40, KLHL41, LMOD3, MAMLD1, MAP3K20, MEFF10, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYPN, NEB, ORAI1, RYR1, SELENON, SPEG, STAC3, STIM1, TNNT1, TPM2, TPM3, TTN.
ACTA1, CFL2, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3.
RYR1.
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, BCS1L, C1QBP, CACNA1S, CASQ1, CAVIN1, CHCHD10, CHKB, COQ2, COQ8A, COQ9, COX10 COX15, COX6A2, CPT2, DGUOK, DNA2, EARS2, EARS2, ECHS1, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FLAD1, FOXRED1, GAA, GBE1, GFER, GYG1, GYS1, HADHA, HADHB, ISCU, LAMP2, LDHA, LIG3, LPIN1, MGME1, MICU1, MSTO1, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PNPLA2, PNPLA8, POLG, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, SDHA, SDHAF1, SDHB, SDHD, SLC16A1, SLC22A5, SLC25A32, TAZ, TIMMDC1, TK2, TMEM126B, TWNK, TYMP, YARS2.
Information

Leukodystrophies

Leukodystrophies represent a heterogeneous group of hereditary degenerative myelin diseases of the brain that result in extensive white matter involvement. The clinical there is a wide-range of different clinical manifestations which makes diagnosis difficult. This study involves the analysis of 72 genes related to different types of leukodystrophy.

Studies included
AARS2, ABCD1, ACER3, ACOX1, ADAR, AIFM1, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, COA8, CSF1R, CYP27A1, DARS1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HIKESHI, HSD17B4, HSPD1, IFIH1, ISCA2, LMNB1, MLC1, MTHFS, NADK2, NDUFA2, NKX6-2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, SAMHD1, SCP2, SLC17A5, SOX10, SUMF1, TREM2, TREX1, TUBB4A, TYROBP, UFM1, VPS11.
Information

Spastic paraparesis

Hereditary spastic paraparesis (HSP) comprises a genetically and clinically heterogeneous group of neurodegenerative disorders whose predominant signs and symptoms are weakness and spasticity of the lower limbs. We offer different approaches for the study of various types of spastic paraparesis as well as a general panel that includes 82 genes associated with the pathology.

Studies included
ADAR, ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2A4, B4GALNT1, BICD2, BSCL2, C19orf12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, AGO1, HSPD1, IBA57, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, MAG, MARS1, MTRFR, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SELENOI, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG24, SPG7, TECPR2, TFG, TUBB4A, UBAP1, USP8, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27.
ALDH18A1, ATAD3A, BICD2, BSCL2, DNM2, FAR1,KIF5A, KIDINS220, SPG7, TUBB4A, VCP.
ATL1, ATP2B4, CPT1C, KIF1A, ERLIN2,HSPD1, NIPA1, REEP1, REEP2, RTN2, SLC33A1, SPAST, SPG7, UBAP1, WASHC5, ZFYVE27.
ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ARSI, ATP13A2, B4GALNT1, C19orf12, CAPN1, CCT5, DDHD2, DSTYK, ENTPD1, ERLIN2, FA2H, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, IBA57, KIF1A, KIF1C, KLC2,KLC4, KY, MAG, MARS1, MTRFR, NT5C2, PGAP1, PNPLA6, RAB3GAP2, SELENOI, SPART, SPG21, TECPR2, TFG, USP8, VPS37A, WDR48, ZFYVE26.
CYP7B1, DDHD1, ERLIN1, REEP2, SPG7, SPG11, SPG24, ZFR.
L1CAM, PLP1, SLC16A2.
Information

Epilepsy

Epilepsy is a disorder of the central nervous system in which normal brain activity is disturbed, causing seizures or periods of unusual behaviour and sensations, and even loss of consciousness. The underlying causes are multiple and heterogeneous. Through different studies we analyse various epilepsy phenotypes. We also include a specific panel for the study of epileptic syndromes of neonatal and infantile onset, as well as a general panel for more complex cases.

Studies included
AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADGRV1, ADRA2B, AFG3L2, AKT1, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARV1, ARFGEF2, ARHGEF9, ARX, ASAH1, ATP1A2, ATP1A3, ATP13A2, ATP6V1A, ATXN1, BRAT1, BRD7, BTD, C3ORF33, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CCM2, CDKL5, CDK19, CELF2, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6 , CLN8, CLCN2, CLTC, CNPY3, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CPLX1, CSTB, CTNND2, CTSD, CYFIP2, DALRD3, DCX, DEPDC5, DHDDS, DMXL2, DNAJC5, DNM1, EFHC1, EEF1A2, EPM2A, FANCL, FGF12, FGF13, FKRP, FKTN, FLNA, FMR1, FOLR1, FOXG1, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAL, GBA, GJA3, GLI3, GNAQ, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, ICK, HEATR3, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNC1, KCNN2, KCNQ2, KCNQ3, KCNT1, LARGE1, LGI1, LMNB2, MAPK10, MECP2, MFSD8, NECAP1, NUS1, NEUROD2, NHLRC1, NPRL2, NPRL3, NTRK2, PAFAH1B1, PARS2, PCDH19, PCDH7, PDCDH10, PHACTR1, PIK3CA, PIK3R2, PIGA, PIGP, PIGQ , PLCB1, PNKP, PNPO, POMT1, POMT2, POLG, PPT1, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RELN, RNASEH2A, RNASEH2B, RNASEH2C,SAMD12, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SIK1, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22, SLC33A1, SLC6A1, SNX27, SPTAN1, STXBP1, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TUBA1A, WDR45,WDR62, UBA5, YEATS2, WWOX, YWHAG, ZEB2.
AARS1, ACTL6B, ADAR, ADGRV1, AP3B2, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CDKL5, CDK19, CELF2, CHD2, CILK1, CLCN2, CLTC, CNPY3, CNKSR2, CPLX1, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EFHC1, EEF1A2, FGF12, FGF13, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GLI3, GNAQ, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNQ2, KCNQ3, KCNT1, MAPK10, NECAP1, NUS1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, PPP3CA, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SPTAN1, ST3GAL3, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22,SPTAN1, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, WDR45, UBA5, WWOX, YWHAG.
AARS1, ACTL6B, ADAR, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CASK, CDK19, CDKL5, CELF2, CHD2, CLTC, CNKSR2, CNPY3, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EEF1A2, FGF12, FGF13, GABRA1, GABRG2, GABRA2, GABRA5, GABRB2, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1 , IQSEC2, KCNA1,KCNB1, KCNQ2, KCNT1, MAPK10, NECAP1, NEUROD2,NTRK2, NUS1, PARS2, PDCH19, PHACTR1, PIGA PIGP, PIGQ,PLCB1, PNKP, PPP3CA, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A,SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22,SPATAN, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, UBA5, WWOX, WDR45.
ADGRV1, GABRD, GABRG2, HCN1, KCNMA1, SCN1A, SCN2A, SCN9A, SCN1B, STX1B.
ADGRV1, GABRD, GABRG2, HCN1, SCN1A, SCN1B, SCN2A, SCN9A, STX1B.
AKT3, CCM2, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, COL4A1, COL4A2, CPA6, DEPC5, GAL, GNAQ, GRIN1, GRIN2A, GRIN2B, KCNT1, KCNQ2, NPRL2, NPRL3, PDCD10, PIK3CA, PIGA, PLCB1, RELN, SCN3A, SCN1A, SCN2A, SLC12A5, SLC25A22, TBC1D24.
ADRA2B, AFG3L2, AP2M1, ASAH1, ATP13A2, CACNB4, CERS1, CHD2, CILK1, CLCN2, CLN3, CLN5, CLN6 , CLN8,CNTN2, CTNND2, CPLX1, CSTB, CTSD, CTSF, DNAJC5, EFHC1, EPM2A, FOLR1, GABRA1, GABRD, GBA, GOSR2, GRN, ICK, JRK, KCNC1, KCTD7, KCNQ3, LMNB2, MFSD8, NHLRC1, PINI1, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, SAMD12, SCARB2, SERPINI1, SLC2A1, SLC6A1, SNX27, SURF1, SYNGAP1, TBC1D24, TPK1, TPP1.
CPLX1, TBC1D24, CACNB4, CLCN2, CILK1, EFHC1, GABRA1, GABRD, JRK, KCNQ3.
Information

Autism spectrum disorder

Autism Spectrum Disorders (ASD) are defined as a chronic neurological dysfunction that can manifest through a series of symptoms related to social interaction, communication and lack of flexibility in reasoning and behaviour. The complexity of the clinical manifestations suggests a multi-causal aetiology with genetic alterations being the main cause. Using a targeted exome, we analyse more than 420 genes with a proven association with ASD.

Studies included
ADNP, ACHE, ACTB, ADA, ADCY3, ADSL, AFF2, AGAP2, AHDC1, AHNAK, AKAP9, ALDH5A1, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANXA1, AP2S1, APBB1, APH1A, ARHGEF9, ARID1B, ARX, ASAP2, ASH1L, ASPM, ASTN2, ASXL3, ATP10A, ATP2B2, ATRX, AUTS2, AVPR1A, BAZ2B, BCKDK, BCL11A, BICRA, BRAF, BRSK2, BTAF1, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CACNB2, CAPRIN1, CASK, CASZ1, CC2D1A, CCNG1, CCT4, CDC42BPB, CDH13, CDKL5, CELF4, CEP135, CEP41, CGNL1, CHAMP1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRNA7, CIB2, CIC, CLASP1, CNKSR2, CNOT1, CNOT3, CNR1, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CORO1A, CPEB4, CREBBP, CSDE1, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CYFIP1, DAPP1, DCC, DDHD2, DDX3X, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DLG2, DLG4, DLGAP1, DLX3, DMPK, DNMT3A, DOCK8, DPP10, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EBF3, EFR3A, EHMT1, EIF3G, ELAVL3, ELP2, ELP4, EMSY, EP300, EP400, ERBIN, ETFB, FBN1, FGFR1, FMR1, FOXG1, FOXP1, FOXP2, FRG1, GABRB2, GABRB3, GABRG3, GALNT10, GALNT8, GFAP, GGNBP2, GIGYF1, GIGYF2, GNAI1, GPC4, GPHN, GRIA1, GRIA2, GRID1, GRIK2, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, HDLBP, HECTD4, HECW2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HRAS, ICA1, ILF2, INTS6, IQSEC2, IRF2BPL, ITGB3, JARID2, KANSL1, KAT2B, KAT6A, KATNAL2, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNS3, KDM3B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0232, KIAA1586, KIF14, KIF1A, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, LAMB1, LDB1, LEO1, LMX1B, LRP1, LRRC4C, LZTR1, MACROD2, MAGEL2, MAP1A, MAPT-AS1, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MET, MFRP, MIR137, MKX, MSL3, MSNP1, MTOR, MYH10, MYH9, MYO5A, MYO9B, MYT1L, NAA15, NACC1, NAV2, NBEA, NCKAP1, NCOA1, NCOR1, NEXMIF, NF1, NFE2L3, NINL, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NRXN3, NRXN1, NRXN3, NSD1, NSD2, NUAK1, NUDCD2, NUP155, OPHN1, OR52M1, OTUD7A, OXTR, P2RX5, P4HA2, PACS1, PAH, PAK2, PARD3B, PAX5, PCCB, PCDH19, PER2, PHB, PHF12, PHF2, PHF21A, PHF3, PHF7, PHIP, PHRF1, PLCB1, PLXNA4, PLXNB1, POGZ, POMGNT1, PON1, PPP1R9B, PPP2R5D, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKD2, PRKN, PRODH, PRR12, PSMD12, PTCHD1, PTCHD1-AS, PTEN, PTK7, PTPN11, PYHIN1, QRICH1, RAB2A, RAB43, RAI1, RALGAPB, RANBP17, RBFOX1, RBM27, RELN, RERE, RFX3, RIMS1, ROBO2, RORB, SAE1, SATB1, SBF1, SCAF4, SCN1A, SCN2A, SCN8A, SCN9A, SEMA5A, SET, SETBP1, SETD2, SETD5, SHANK1, SHANK2, SHANK3, SHOX, SIN3A, SIN3B, SKI, SLC12A5, SLC35B1, SLC38A10, SLC6A1, SLC6A3, SLC7A3, SLC7A5, SLC9A6, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCC2, SNX5, SON, SORCS3, SOX5, SPARCL1, SPAST, SPEN, SPTBN1, SRCAP, SRPRA, SRSF11, ST8SIA2, STXBP1, STXBP5, SUPT16H, SYN1, SYNGAP1, TAF6, TANC2, TAOK1, TAOK2, TBC1D31, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TEK, TERF2, TET2, TLK2, TM9SF4, TMLHE, TNRC6B, TRAF7, TRAPPC9, TRIM23, TRIO, TRIP12, TRPC6, TRPM1, TSC1, TSC2, TSHZ3, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC79, UPF3B, USP15, USP45, USP7, USP9X, VEZF1, VIL1, VPS13B, WAC, WDFY3, WDFY4, WWOX, ZBTB20, ZC3H4, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF292, ZNF462, ZNF804A.
Information

Intellectual disability

Intellectual disability refers to a group of cognitive disorders of heterogeneous and complex cause with a genetic component in most cases. Advances in genetics have increased the diagnostic rate of current studies by up to 30-40% of patients. Our targeted exome analyses more than 580 genes associated with intellectual disability.

Studies included
AAAS, AASS, ABAT, ABCB11, ABCD1, ABHD5, ACADS, ACSL4, ADAT3, ADGRG1, ADSL, AGA, AGTR2, AHI1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMT, AP1G1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARSA ARX, ASH1L, ASPA, ASPM, ASXL1, ASXL3, ATP6AP2, ATP7A, ATP8A2, ATRX, AUH, B3GALNT2, B3GLCT, B3GNT2, B4GALT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, BRCA2, BRIP1, BRSK2, BRWD3, BSCL2, BTD, C5ORF42, C12ORF4, CA2, CA8, CACNA1C, CACNG2, CAMK2A, CAMK2B, CANT1, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CD96, CDH15, CDK5RAP2, CDKL5, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CHD7, CHKB, CHMP1A, CIC, CLIC2, CLIP1, CLN3, CLCN4, CLN5, CLN6, CLN8, CLTC, CNKSR2, COG1, COG4, COG5, COG6, COG7, COG8, COL2A1, COL4A1, COMP, COQ2, COQ4, COQ6, COQ8A, COQ9, CPS1, CRADD, CRBN, CRPPA, CSNK2B, CSNK2B, CSPP1, CTCF, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CYB5R3, CYP27A1, DARS2, DCPS, DCX, DDC, DDOST, DDX59, DHCR7, DKC1, DLG3, DLL1, DNAJC19, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPF2, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EDC3, EEF1A2, EIF2S3, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZR, FAM126A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCCI, FANCL, FANCM, FBN1, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FMN2, FOXG1, FOXL2, FRMPD4, FRRS1L, FTCD, FTSJ1, FUCA1, GABRG2, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GFAP, GJB1, GJB6, GJC2, GK, GLB1, GLDC, GLI3, GLYCTK, GM2A, GMPPB, GNAS, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPI, GRIA3, GRIK2, GRIN1, GRIN2B, GRM7,GSS, GUSB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNMT, HPRT1, HRAS, HSD17B10, HSPD1, HSPG2, HUWE1, HYAL1, HYLS1, IDS, IDUA, IGBP1, IL1RAPL1, INPP5E, INSR, IQSEC2, ITPR1, JAG1, KATNIP, KCNC3, KCNJ10, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1A, KIF7, KIRREL3, KMT2D, KNL1, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LARGE1, LINS1, LMAN2L, LRP5, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MBD5, MBOAT7, MCOLN1, MCPH1, MECP2, MED12, MED23, MED25, METTL23, MFSD8, MGAT2, MID1, MID2, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MVK, MYCN, MYO5A, MYT1L, NAA10, NAGLU, NBN, NBEA, NCDN, NDE1, NDP, NDST1, NECTIN1, NEMF, NEXHIF, NFIX, NGLY1, NHS, NIPBL, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NSD1, NSDHL, NSUN2, NTRK1, OCRL, OFD1, OPA3, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PAX3, PAX6, PCBD1, PCCA, PCDH19, PDHA1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHC1, PHF6, PHF8, PIBF1, PIGL, PLA2G6, PLP1, PMM2, PNKP, PNP, PNPO, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPT1, PPP3CA, PQBP1, PRKAR1A, PRICKLE2, PRPS1, PRSS12, PSAP, PTCH1, PTCHD1, PTEN, PTPN11, PTS, QDPR, RAB11A, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RARS2, RBM10, RECQL4, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPS6KA3, RSRC1, RXYLT1, SACS, SAMHD1, SAR1B, SARS1, SBDS, SC5D, SCN1A, SCN2A, SCN9A, SEMA3E, SEPSECS, SET, SETBP1, SETD1B, SGSH, SH3PXD2B, SHROOM4, SIL1, SLC12A2, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A22, SLC2A1, SLC45A1, SLC9A7, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX11, SOX3, SOX4, SPAST, SPG11, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STEEP1, STIL, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAT, TAOK1, TBCE, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TECR, TGFBR1, TGFBR2, TIMM8A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TNIK, TPI1, TPP1, TRAPPC9, TREM2, TREX1, TRIM32, TRPM3, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTC5, TTC8, TUBA1A, TUBB4A, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBE4A, UBR1, UFSP2, UMPS, UPF3B, UROC1, USP27X, USP9X, VLDLR, VPS13B, VRK1, WASHC4, WDPCP, WDR62, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZMYND11, ZNF335, ZNF423, ZNF711, ZNF81.
ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ALG13, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, STEEP1, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81.
FMR1.
15q11.
15q11.
Information

Ataxia

Ataxia is a motor disorder characterized by a decreased ability to coordinate movements, manifesting as tremor of body parts during voluntary movements, difficulty in making precise movements or difficulty in maintaining balance.

Studies included
AAAS, ABCB7, ABHD12, ADCK3, ADGRG1, AFG3L2, AHI1, ALDH5A1,ANO10, APTX, ARL13B,ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8,BEAN1, CA8, CACNA1A, CACNB4, CAMTA1, CC2D2A, CCDC88C, CEP290, CHMP1A, CHP1, CLCN2, CLN5, COA7, COQ2, COQ5, COQ8A, COQ9, COX20, CP, CRPPA, CSTB,CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5,EXOSC3, FAT2, FGF14, FLVCR1, FMR1, FXN, GALC, GBA2, GPR56, GRID2, GRM1, GSS, TPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226, KIF1C, L2HGDH, LARGE1, KIF1C,, MARS2, MECP2, MRE11, MTPAP, MTTP, NEU1, NHLRC1, NKX6-2, NPC1, NPC2, NOP56, OPA1, OPA3, OPHN1, PAX6, PCNA, PDYN, PHYH, PIK3R5, PLA2G6, PLEKHG4, PNKP, PNPLA6, POLG, POLH, POMGNT2, PPP2R2B, PRICKLE1, PRKCG RARS2, RFC1, RNF170,RPGRIP1L, RUBCN, SACS, SAR1B, SEPSECS, SETX, SCN2A, SCN8A, SETX, SIL1, SLC17A5, SLC1A3, SLC2A1, SLC52A2, SLC9A6, SMPD1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TMEM67, TSEN2, TSEN54, TTBK2, TTPA, TPP1, TTBK2, TTPA, TUBB4A, TWNK, VAMP1, VLDLR, VLDLR, VPS13A, VWA3B, WDR81, WFS1, WWOX, ZNF592.
AFG3L2, ATN1, ATP1A3, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN, C9orf72, CACNA1A, DNMT1, EEF2, FGF12, FGF14, GRID2, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, TBP, TGM6, TMEM240, TTBK2, TUBB4A.
ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, PPP2R2B, TBP.
AFG3L2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN, CACNA1A, EEF2, ELOVL5, FAT2, FGF14, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, STUB1, TBP, TGM6, TMEM240, TTBK2.
ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7.
ADCK3, COQ5, SMPD1, SYNE1, NPC1, NPC2.
ATP1A3, CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3.
AFG3L2, CHP1, KIF1C, MARS2*, MTPAP, NKX6-2, SACS, SPG7, VAMP1.
ANO10, APTX, ATM, CYP27A1, CWF19L1, FXN*, GRM1, PEX7, PHYH, PNPLA6, RFC1, RUBCN, SACS, SETX, SIL1, SLC52A2, SNX14, STUB1, SYNE1, TPP1, TTPA, TWNK, VWA3B, WFS1.
FXN*, POLG, TTPA.
FXN*.
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP.
ATM.
ABCB7, CASK, FMR1*, OPHN1, SLC9A6.
FMR1
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