Nervous system
About this category
The nervous system is divided into a central part and a peripheral part. The term central nervous system (CNS) refers to the spinal cord and the brain. This part of the nervous system is responsible for maintaining key vital functions of the body, such as breathing, heart function, and regulation of reflexes. The peripheral nervous system is responsible for the transmission of nerve impulses between the muscles, glands and the CNS. Genetic damage to the nervous system can have a very diverse cause in damaged genes and a very varied course. Diseases related to the malfunction of the nervous system are, for example:
- ataxia with ataxia with ataxia and problems with maintaining balance,
- leukodystrophies and leukoencephalopathies, causing destruction of the white matter of the brain and the myelin sheaths,
- spinal muscle atrophy associated with the death of neurons,
- epilepsy and encephalopathies.
Diseases related to the malfunction of the nervous system may also be caused by damage to the genes, causing the weakening of the work of muscle fibers, such as myopathies.
All genetic tests are performed using the next-generation sequencing method, using Illumina sequencers. Our tests are subject to internal and external control. The laboratory is subject to continuous external quality control.
Panels in this category
44 panels-
Alzheimer's disease
Frequently chosen 7 genesAPOE; APP; MPO; NOS3; PLAU; PSEN1; PSEN2
615 EURDetails -
Amyotrophic lateral sclerosis
50 genesALS2; ANG; ANXA11; ATL1; ATXN2; BSCL2; C9orf72; CHCHD10; CHMP2B; CSF1R; DCTN1; ERBB4; FIG4; FUS; GBE1; GRN; HEXA; HNRNPA1; HSPD1; ITM2B; KIAA0196; KIF5A; MAPT; MATR3; NEFH; NEK1; OPTN; PFN1; PRF1; PRPH; PSEN1; PSEN2; REEP1; SETX; SIGMAR1; SLC52A2; SLC52A3; SOD1; SPAST; SPG11; SQSTM1; TARDBP; TBK1; TIA1; TREM2; TRPM7; TUBA4A; UBQLN2; VAPB; VCP
615 EURDetails -
Analysis of EIF2B1, EIF2B2, EIF2B3, EIF2B4
4 genesEIF2B1; EIF2B2; EIF2B3; EIF2B4
530 EURDetails -
Ataxia
260 genesABCB7; ABHD12; ABHD5; ACADVL; ACO2; ACP2; ADCK3; AFF1; AFG3L2; AGTPBP1; AHI1; ALDH5A1; AMACR; ANO10; APTX; ARL13B; ARL6; ARSA; ATCAY; ATM; ATN1; ATP13A2; ATP1A3; ATP2B3; ATP8A2; ATXN1; ATXN10; ATXN2; ATXN3; ATXN7; B9D1; BBS1; BBS10; BBS12; BBS2; BBS4; BBS5; BBS7; BBS9; BEAN1; BRAT1; BSCL2; BTD; BTK; C10orf2; C12orf4; C12orf65; C19orf12; C5orf42; CA8; CACNA1A; CACNA1G; CACNB4; CAMTA1; CAPN1; CASK; CC2D2A; CCDC88C; CEP104; CEP290; CEP41; CHMP1A; CLCN2; CLN5; CLN6; CLPP; COA7; COASY; COQ2; COQ9; COX20; CP; CSPP1; CSTB; CTSD; CWF19L1; CYP27A1; CYP2U1; DARS2; DLAT; DNAJC19; DNAJC5; DNMT1; DOCK3; EBF3; EEF2; EIF2B1; EIF2B2; EIF2B3; EIF2B4; EIF2B5; ELOVL4; ELOVL5; EXOSC3; FA2H; FBXL4; FGF14; FLVCR1; FMR1; FTL; FXN; GALC; GBA; GBA2; GFAP; GJB1; GJC2; GOSR2; GPI; GRID2; GRM1; GRN; GSS; HARS2; HEPACAM; HEXB; HIBCH; HPD; INPP5E; IRF2BPL; ITM2B; ITPR1; KCNA1; KCNC3; KCND3; KCNJ10; KIAA0226; KIF1A; KIF1C; KIF5A; KIF7; LAMA1; LARS2; LMNB1; LRPPRC; MARS2; MFSD8; MIPEP; MKKS; MKS1; MLC1; MME; MRE11A; MSTO1; MTFMT; MTPAP; MTTP; NDUFAF6; NDUFS1; NDUFS2; NDUFS4; NDUFS7; NDUFS8; NDUFV1; NEDD4; NKX6-2; NOL3; NOP56; NPHP1; NUBPL; OFD1; OPA1; OPA3; OPHN1; PANK2; PAX6; PDHX; PDSS1; PDSS2; PDYN; PEX10; PEX2; PEX7; PHYH; PLA2G6; PLP1; PMPCA; PNKD; PNKP; PNP; PNPLA6; POLG; POLR3A; POLR3B; PPP2R2B; PRICKLE1; PRKCG; PRNP; PRPS1; PRRT2; PUM1; RARS2; RNF170; RNF216; RPGRIP1L; RRM2B; RTN4IP1; SACS; SAMD9L; SCN2A; SCYL1; SERAC1; SETX; SIL1; SLC16A2; SLC17A5; SLC1A3; SLC20A2; SLC25A46; SLC2A1; SLC52A2; SLC52A3; SLC9A1; SLC9A6; SNX14; SPG11; SPG7; SPR; SPTBN2; STUB1; STXBP1; SYNE1; SYT14; TBP; TCTN1; TCTN2; TCTN3; TDP1; TGM6; TMEM138; TMEM216; TMEM231; TMEM237; TMEM240; TMEM67; TOP2B; TPP1; TRIM32; TSEN2; TSEN34; TSEN54; TTBK2; TTC19; TTC8; TTPA; TUBB4A; UBA5; UBTF; UCHL1; VAMP1; VLDLR; VRK1; VWA3B; WDPCP; WDR81; WFS1; WWOX; ZFYVE26; ZNF423; ZNF592
615 EURDetails -
Autism spectrum disorders
94 genesADNP; ADSL; ALDH5A1; AMT; ANK2; ANKRD11; ARID1B; ASH1L; ASXL3; BCL11A; BRAF; C12orf4; CACNA1C; CC2D1A; CDKL5; CHD2; CHD8; CNOT3; CNTN4; CNTN6; CNTNAP2; COL4A3BP; CREBBP; CSNK2A1; CTNND2; DHCR7; DSCAM; DYRK1A; EHMT1; EN2; FBXO11; FOXG1; FOXP1; GABRB3; GAMT; GRIN2B; GRIP1; HDAC8; HOXA1; HPRT1; KATNAL2; KDM5B; KMT2E; MAGEL2; MBOAT7; MECP2; MED12; MID1; MYT1L; NBEA; NHS; NIPBL; NLGN1; NLGN3; NLGN4X; NRXN1; NSD1; PCDH19; PDE8B; POGZ; PQBP1; PTCHD1; PTEN; PTPN11; RAD21; RAI1; RELN; RPL10; SCN1A; SCN2A; SETD2; SHANK2; SHANK3; SLC6A1; SLC6A8; SLC9A9; SMC1A; SMC3; SUV420H1; SYNGAP1; TBL1XR1; TBR1; TCF20; TCF4; TMLHE; TRIP12; TSC1; TSC2; UBE3A; VAMP2; VPS13B; WASF1; ZEB2; ZSWIM6
615 EURDetails -
Cerebellar ataxia
55 genesADCK3; AFG3L2; ANO10; ATN1; ATP2B3; ATXN1; ATXN10; ATXN2; ATXN3; ATXN7; BEAN1; C10orf2; CACNA1A; CACNA1G; COA7; CWF19L1; DAB1; DNMT1; EEF2; ELOVL4; ELOVL5; FAT2; FGF14; GDAP2; GRID2; GRM1; IFRD1; ITPR1; KCNC3; KCND3; NOP56; PDYN; PLEKHG4; PMPCA; PPP2R2B; PRKCG; PUM1; SCYL1; SETX; SNX14; SPTBN2; STUB1; SYNE1; SYT14; TBP; TDP1; TDP2; TGM6; THG1L; TMEM240; TPP1; TTBK2; VPS13D; VWA3B; WWOX
615 EURDetails -
Cerebellar hypoplasia - basic panel
6 genesCASK; CHMP1A; EXOSC3; EXOSC8; TSEN2; TSEN54
615 EURDetails -
Cerebrovascular accident (stroke)
30 genesACTA2; ACVRL1; CBS; CCM2; CECR1; COL3A1; COL4A1; COL4A2; CST3; ENG; EPHB4; GDF2; GLA; GUCY1A3; HTRA1; KRIT1; NOTCH3; PDCD10; RASA1; RNF213; SLC2A10; SMAD2; SMAD3; SMAD4; TEK; TGFB2; TGFB3; TGFBR1; TGFBR2; TREX1
615 EURDetails -
Charcot-Marie-Tooth disease
119 genesAARS; ABHD12; AGTPBP1; AIFM1; AMACR; ARHGEF10; ATAD3A; ATL1; ATL3; ATP1A1; ATP7A; BAG3; BICD2; BSCL2; C12orf65; CCT5; CHCHD10; CNTNAP1; COA7; COX10; COX6A1; CTDP1; DCAF8; DCTN1; DCTN2; DHTKD1; DNAJB2; DNM2; DNMT1; DRP2; DST; DYNC1H1; EGR2; FAM134B; FBLN5; FGD4; FIG4; FXN; GAN; GARS; GDAP1; GJB1; GNB4; GNE; HADHB; HARS; HINT1; HK1; HSPB1; HSPB3; HSPB8; IGHMBP2; IKBKAP; INF2; JPH1; KARS; KIF1A; KIF5A; LDB3; LITAF; LMNA; LRSAM1; MARS; MCM3AP; MED25; MFN2; MME; MORC2; MPV17; MPZ; MTMR2; MYOT; NAGLU; NDRG1; NEFH; NEFL; NGF; NTRK1; PDK3; PLEKHG5; PMP22; PNKP; POLG; PRDM12; PRPS1; PRX; PTRH2; RAB7A; REEP1; SACS; SBF1; SBF2; SCN11A; SCN9A; SCO2; SCYL1; SEPT9; SETX; SGPL1; SH3TC2; SIGMAR1; SLC12A6; SLC25A46; SMAD3; SPG11; SPTBN4; SPTLC1; SPTLC2; SURF1; TFG; TRIM2; TRPV4; TTR; TYMP; VCP; WARS; WNK1; YARS; ZFYVE26
615 EURDetails -
Charcot-Marie-Tooth disease - small panel
12 genesBSCL2; GDAP1; GJB1; HINT1; HSPB1; LITAF; MFN2; MME; MPZ; PMP22; PRPS1; SH3TC2
615 EURDetails -
Coenzyme q10 deficiency
16 genesADCK3; ADCK4; ANO10; APTX; COQ2; COQ4; COQ5; COQ6; COQ7; COQ9; ETFA; ETFB; ETFDH; PDSS1; PDSS2; SLC25A26
615 EURDetails -
Collagen-related neuropathies
6 genesCOL12A1; COL4A1; COL4A2; COL6A1; COL6A2; COL6A3
615 EURDetails -
Dementia
72 genesA2M; ABCA7; ALS2; ANG; APOE; APP; ARSA; ATL1; ATP7B; ATXN2; BSCL2; BTK; C9orf72; CHCHD10; CHMP2B; CP; CSF1R; CST3; CTSB; DCTN1; ERBB4; FIG4; FTL; FUS; GBA; GRN; HEXA; HFE; HNRNPA1; HSPD1; HTRA1; IFT74; ITM2B; KIAA0196; KIF5A; MAPT; MATR3; MPO; NEFH; NOS3; NOTCH3; NPC1; OPTN; PANK2; PFN1; PLAU; PRNP; PSEN1; PSEN2; REEP1; RNF216; SERPINI1; SETX; SIGMAR1; SLC52A3; SNCA; SNCB; SOD1; SORL1; SPAST; SPG11; SQSTM1; TARDBP; TBK1; TREM2; TRPM7; TUBA4A; TYROBP; UBE3A; UBQLN2; VAPB; VCP
615 EURDetails -
Dravet syndrome
6 genesGABRD; GABRG2; SCN1A; SCN2A; SCN9A; STX1B
615 EURDetails -
Dystonia
47 genesADAR; ADCY5; ANO3; ATM; ATP1A3; ATP7B; BCAP31; CACNA1A; COASY; COL6A3; COX20; DNAJC12; FA2H; FBXO7; FTL; GCDH; GCH1; GNAL; HPCA; KCNA1; KCNMA1; KCTD17; KIF1C; KMT2B; MECR; PANK2; PARK2; PINK1; PLA2G6; PNKD; PRKRA; PRRT2; SCN8A; SGCE; SLC19A3; SLC2A1; SLC30A10; SLC39A14; SLC6A3; SPR; TAF1; TH; THAP1; TOR1A; TUBB4A; VAC14; VPS13A
615 EURDetails -
Emery-Dreifuss muscular dystrophy
8 genesDMD; EMD; FHL1; LMNA; SYNE1; SYNE2; TMEM43; TTN
615 EURDetails -
Epilepsy and epileptic encephalopathies
194 genesABCD1; ADAR; ADSL; AFG3L2; AGA; AIMP1; ALDH5A1; ALDH7A1; ALG13; AMACR; AMT; ARG1; ARHGEF9; ARSA; ARX; ASAH1; ASPA; ATP13A2; ATRX; BTD; CACNA1A; CACNA1H; CACNB4; CASK; CASR; CDKL5; CERS1; CHD2; CHRNA2; CHRNA4; CHRNB2; CLCN2; CLN3; CLN5; CLN6; CLN8; CNTNAP2; COL4A1; COX15; CPT2; CSF1R; CSTB; CTSD; CTSF; CUL4B; DARS2; DCX; DEPDC5; DNAJC5; DNM1; DOCK7; DPYD; EARS2; EEF1A2; EFHC1; EIF2B1; EIF2B2; EIF2B3; EIF2B4; EIF2B5; EPM2A; ETFA; ETFB; ETFDH; FAM126A; FH; FLNA; FOLR1; FOXG1; FOXRED1; GABRA1; GABRB3; GABRG2; GALC; GAMT; GCDH; GCH1; GFAP; GJC2; GLDC; GNAO1; GNE; GOSR2; GPHN; GRIA3; GRIN2A; GRIN2B; GRN; HCN1; HEPACAM; HNRNPU; HSD17B10; HSPD1; IQSEC2; KCNA1; KCNA2; KCNB1; KCNC1; KCNQ2; KCNQ3; KCNT1; KCTD7; KDM5C; KIF1A; L2HGDH; LGI1; MARS2; MBD5; MECP2; MED12; MEF2C; MFSD8; MLC1; MOCS1; MTHFR; MTOR; NDUFAF5; NECAP1; NEU1; NHLRC1; NOTCH3; NRXN1; OFD1; OPHN1; PCDH19; PGK1; PHF6; PIGA; PLCB1; PLP1; PNKP; PNPO; POLR3A; POLR3B; PPT1; PRICKLE1; PRICKLE2; PRODH; PRRT2; PSAP; PTS; PURA; QDPR; RAB39B; RELN; RNASEH2A; RNASEH2B; RNASEH2C; RNASET2; SAMHD1; SCARB2; SCN1A; SCN1B; SCN2A; SCN8A; SCN9A; SERPINI1; SIK1; SLC12A5; SLC13A5; SLC19A3; SLC25A15; SLC25A22; SLC2A1; SLC35A2; SLC46A1; SLC6A1; SLC6A8; SLC9A6; SMS; SNAP25; SOX10; SPTAN1; ST3GAL3; ST3GAL5; STX1B; STXBP1; SUMF1; SUOX; SYN1; SYNGAP1; SZT2; TBC1D24; TCF4; TPP1; TREX1; TSC1; TSC2; TUBB4A; UBE2A; UBE3A; WDR45; WWOX; ZEB2
615 EURDetails -
Epilepsy and X-linked epileptic disorders
22 genesARHGEF9; ARX; ATRX; CASK; CDKL5; CUL4B; GRIA3; HSD17B10; IQSEC2; KDM5C; MECP2; MED12; OFD1; OPHN1; PCDH19; PGK1; PHF6; RAB39B; SLC9A6; SMS; SYN1; UBE2A
615 EURDetails -
Epileptic encephalopathies
202 genesAARS; ABAT; ACTL6B; ACY1; ADAM22; ADAR; ADPRHL2; ADSL; ALDH7A1; ALG13; AMT; AP2M1; AP3B2; APOPT1; ARHGEF9; ARV1; ASNS; ATP6V1A; BRAT1; CACNA1A; CACNA1B; CACNA1E; CACNA2D2; CAD; CASK; CDKL5; CHD2; CLCN4; CLTC; CNKSR2; CNPY3; CNTNAP2; COX6B1; CPT2; CUX2; CYFIP2; D2HGDH; DALRD3; DCX; DENND5A; DMXL2; DNM1; DNM1L; DOCK7; ECHS1; EEF1A2; ETHE1; FAR1; FARS2; FGF12; FLNA; FOLR1; FOXG1; FRRS1L; GABBR2; GABRA1; GABRA2; GABRA5; GABRB1; GABRB2; GABRB3; GABRG2; GAMT; GCSH; GLDC; GLS; GNAO1; GOT2; GPHN; GRIN1; GRIN2A; GRIN2B; GRIN2D; GTPBP3; GUF1; HCN1; HECW2; HEPACAM; HIBCH; HNRNPU; HTT; ITPA; JRK; KCNA2; KCNB1; KCNJ10; KCNMA1; KCNQ2; KCNQ3; KCNQ5; KCNT1; KCNT2; KCTD3; KIF1A; LRPPRC; LYRM7; MAGI2; MAPK10; MBD5; MDH2; MECP2; MED17; MEF2C; MOCS1; MRPL44; MTFMT; MTHFR; NACC1; NDUFAF6; NDUFS2; NDUFS4; NDUFS6; NDUFS7; NDUFS8; NDUFV1; NECAP1; NEUROD2; NRXN1; NTRK2; NUBPL; PACS2; PARS2; PCDH19; PHACTR1; PIGA; PIGB; PIGP; PIGQ; PIGS; PIGW; PLAA; PLCB1; PNKP; PNPO; POLG; PPP3CA; PROSC; PRRT2; PTPN23; PURA; RANBP2; RHOBTB2; RMND1; RNASEH2A; RNASEH2B; RNASEH2C; RNF13; ROGDI; SAMHD1; SCN1A; SCN1B; SCN2A; SCN3A; SCN8A; SCN9A; SCO1; SDHAF1; SERAC1; SIK1; SLC12A5; SLC13A5; SLC19A3; SLC1A2; SLC25A1; SLC25A12; SLC25A22; SLC2A1; SLC35A2; SLC6A8; SLC9A6; SMC1A; SNAP25; SPTAN1; ST3GAL3; ST3GAL5; STXBP1; SYN1; SYNGAP1; SYNJ1; SZT2; TBC1D24; TBCD; TBCE; TBCK; TCF4; TRAK1; TREX1; TRIM8; TSC1; TSC2; TTC19; UBA5; UBE3A; UGDH; UGP2; UNC80; VARS; WARS2; WDR45; WWOX; YWHAG; ZEB2
615 EURDetails -
Fahr's syndrome
4 genesPDGFB; PDGFRB; SLC20A2; XPR1
530 EURDetails -
Hemiplegic migraine
3 genesATP1A2; CACNA1A; SCN1A
530 EURDetails -
Idiopathic epilepsy
42 genesALDH7A1; AMACR; CACNA1H; CACNB4; CASR; CHRNA2; CHRNA4; CHRNB2; CLCN2; CPA6; DEPDC5; EFHC1; GABRA1; GABRB3; GABRD; GABRG2; GRIN2A; JRK; KCNA1; KCNC1; KCNMA1; KCNQ2; KCNQ3; KCNT1; LGI1; MTOR; NPRL3; POLG; PRRT2; RELN; RORB; SCN1A; SCN1B; SCN2A; SCN8A; SCN9A; SLC12A5; SLC2A1; SLC6A1; SRPX2; STX1B; TBC1D24
615 EURDetails -
Janz syndrome
6 genesCACNB4; CLCN2; EFHC1; GABRA1; GABRD; ICK
615 EURDetails -
Leukodystrophies and leukoencephalopathies
118 genesAARS2; ABCD1; ACBD5; ACOX1; ADAR; AIFM1; AIMP1; AIMP2; ALDH3A2; AP4B1; AP4E1; AP4M1; AP4S1; APOPT1; ARSA; ASPA; BEST1; C11orf73; CLCN2; COA7; COL4A1; COX15; COX6B1; CSF1R; CTC1; CYP27A1; D2HGDH; DARS; DARS2; DEGS1; EARS2; EIF2AK1; EIF2AK2; EIF2B1; EIF2B2; EIF2B3; EIF2B4; EIF2B5; EPRS; FA2H; FAM126A; FDX1L; FOLR1; FOXRED1; GALC; GFAP; GFM1; GJC2; HEPACAM; HIBCH; HSD17B4; HSPD1; HTRA1; IBA57; L2HGDH; LMNB1; LYRM7; MARS2; MLC1; MRPL44; MTFMT; NDUFAF5; NDUFV1; NFU1; NKX6-2; NOTCH3; NT5C2; NUBPL; PEX1; PEX10; PEX11B; PEX12; PEX13; PEX14; PEX16; PEX19; PEX2; PEX26; PEX3; PEX5; PEX6; PEX7; PHYH; PLEKHG2; PLP1; POLR1C; POLR3A; POLR3B; PSAP; PYCR2; RARS; RNASEH2A; RNASEH2B; RNASEH2C; RNASET2; RNF216; SAMHD1; SCO1; SCP2; SDHA; SDHAF1; SERAC1; SLC13A3; SLC16A2; SLC1A4; SNORD118; SOX10; SUMF1; TMEM106B; TMEM63A; TREM2; TREX1; TTC19; TUBB4A; TYROBP; UFM1; VPS11; ZFYVE26
615 EURDetails -
Limb-girdle dystrophies and CK-emias
173 genesACAD9; ACADVL; ACTA1; AGL; AGRN; ALG14; ALG2; AMPD1; ANO5; ATP2A1; B3GALNT2; BAG3; BICD2; BIN1; BVES; CACNA1S; CAPN3; CASQ1; CAV3; CCDC78; CFL2; CHAT; CHKB; CHRNA1; CHRNB1; CHRND; CHRNE; CHRNG; CLCN1; CLN3; CNTN1; COL12A1; COL4A1; COL4A2; COL6A1; COL6A2; COL6A3; COLQ; CPT2; CRYAB; DAG1; DES; DMD; DMPK; DNAJB6; DNM2; DPAGT1; DPM1; DPM2; DPM3; DTNA; DYSF; EMD; ENO3; ETFB; ETFDH; FAM111B; FDX1L; FHL1; FKBP14; FKRP; FKTN; FLNC; FRG1; GAA; GBE1; GFPT1; GMPPB; GNE; GOLGA2; GYG1; GYS1; HNRNPDL; INPP5K; ISCU; ISPD; ITGA7; KBTBD13; KLHL40; KLHL41; LAMA2; LAMB2; LAMP2; LARGE; LDB3; LDHA; LIMS2; LMNA; LMOD3; LPIN1; LRP12; MAMLD1; MEGF10; MICU1; MLTK; MME; MSTN; MSTO1; MTM1; MTMR14; MUSK; MYF6; MYH2; MYH7; MYO18B; MYOT; NDUFV1; NEB; NR0B1; OPA1; PABPN1; PFKM; PGAM2; PGK1; PGM1; PHKA1; PHKB; PLEC; PNPLA2; POGLUT1; POLG; POMGNT1; POMGNT2; POMK; POMT1; POMT2; POPDC3; PREPL; PRKAG2; PTRF; PYGM; PYROXD1; RAB40AL; RAPSN; RBCK1; RYR1; SCN4A; SEPN1; SEPT9; SGCA; SGCB; SGCD; SGCE; SGCG; SLC22A5; SLC25A20; SLCO1B1; SMCHD1; SPEG; SPTBN4; STAC3; STIM1; SYNE1; SYNE2; SYT2; TCAP; TIA1; TK2; TMEM126B; TMEM43; TNNT1; TNPO3; TOR1AIP1; TPM2; TPM3; TRAPPC11; TRIM32; TRIM54; TRIM63; TTN; VCP; VMA21; VPS13A
615 EURDetails -
MCCC gene disorders
2 genesMCCC1; MCCC2
530 EURDetails -
Metabolic epilepsy
45 genesABAT; ADSL; AGA; ALDH5A1; ALDH7A1; AMT; ARG1; BTD; D2HGDH; DHFR; DNM1L; DPYD; DPYS; ETFA; ETFB; ETFDH; ETHE1; FH; GAMT; GCDH; GCH1; GLDC; GNE; GPHN; HIBCH; L2HGDH; MIPEP; MOCS1; MTHFR; NDUFAF3; NDUFS6; PGK1; PNPO; POLG; PRODH; PTS; QDPR; SERAC1; SLC25A15; SLC25A42; SLC2A1; SLC46A1; SUOX; TPK1; WARS2
615 EURDetails -
Migraines
26 genesASTN2; ATP1A2; ATP1A3; CACNA1A; CARF; CFDP1; HPSE2; IGSF9B; KCNK18; KCNK5; MEF2D; MRVI1; NOTCH3; NRP1; PHACTR1; PLCE1; POLG; PRDM16; PRRT2; RNF213; SCN1A; SLC1A3; SLC24A3; SLC2A1; SUGCT; YAP1
615 EURDetails -
Myastenic syndrome
27 genesAGRN; ALG2; CHAT; CHRNA1; CHRNB1; CHRND; CHRNE; CHRNG; COL13A1; COLQ; DOK7; DPAGT1; FLAD1; GFPT1; LAMB2; MUSK; MYO9A; PLEC; PREPL; RAPSN; SCN4A; SLC18A3; SLC25A1; SLC5A7; STIM1; SYT2; VAMP1
615 EURDetails -
Myoclonic epilepsies, Neuronal ceroid lipofuscinoses
33 genesAFG3L2; ASAH1; ATP13A2; BRAT1; CERS1; CLN3; CLN5; CLN6; CLN8; CSTB; CTSD; CTSF; DNAJC5; EPM2A; FOLR1; GABRB2; GOSR2; GRN; KCNC1; KCTD7; LMNB2; MFSD8; NEU1; NHLRC1; POLG; PPT1; PRICKLE1; PRICKLE2; SCARB2; SEMA6B; SERPINI1; TBC1D24; TPP1
615 EURDetails -
Myofibrillar myopathies
11 genesBAG3; CRYAB; DES; DNAJB6; FHL1; FLNC; KY; LDB3; MYOT; PYROXD1; TTN
615 EURDetails -
Myopathies
24 genesACTA1; ACTN2; BIN1; CCDC78; CFL2; CNTN1; DNM2; FHL1; KBTBD13; MAMLD1; MTM1; MTMR14; MYBPC1; MYF6; MYH7; MYL1; NEB; PAX7; RYR1; SEPN1; STAC3; TNNT1; TPM2; TPM3
615 EURDetails -
Myopathies and muscular dystrophies
173 genesACAD9; ACADVL; ACTA1; AGL; AGRN; ALG14; ALG2; AMPD1; ANO5; ATP2A1; B3GALNT2; BAG3; BICD2; BIN1; BVES; CACNA1S; CAPN3; CASQ1; CAV3; CCDC78; CFL2; CHAT; CHKB; CHRNA1; CHRNB1; CHRND; CHRNE; CHRNG; CLCN1; CLN3; CNTN1; COL12A1; COL4A1; COL4A2; COL6A1; COL6A2; COL6A3; COLQ; CPT2; CRYAB; DAG1; DES; DMD; DMPK; DNAJB6; DNM2; DPAGT1; DPM1; DPM2; DPM3; DTNA; DYSF; EMD; ENO3; ETFB; ETFDH; FAM111B; FDX1L; FHL1; FKBP14; FKRP; FKTN; FLNC; FRG1; GAA; GBE1; GFPT1; GMPPB; GNE; GOLGA2; GYG1; GYS1; HNRNPDL; INPP5K; ISCU; ISPD; ITGA7; KBTBD13; KLHL40; KLHL41; LAMA2; LAMB2; LAMP2; LARGE; LDB3; LDHA; LIMS2; LMNA; LMOD3; LPIN1; LRP12; MAMLD1; MEGF10; MICU1; MLTK; MME; MSTN; MSTO1; MTM1; MTMR14; MUSK; MYF6; MYH2; MYH7; MYO18B; MYOT; NDUFV1; NEB; NR0B1; OPA1; PABPN1; PFKM; PGAM2; PGK1; PGM1; PHKA1; PHKB; PLEC; PNPLA2; POGLUT1; POLG; POMGNT1; POMGNT2; POMK; POMT1; POMT2; POPDC3; PREPL; PRKAG2; PTRF; PYGM; PYROXD1; RAB40AL; RAPSN; RBCK1; RYR1; SCN4A; SEPN1; SEPT9; SGCA; SGCB; SGCD; SGCE; SGCG; SLC22A5; SLC25A20; SLCO1B1; SMCHD1; SPEG; SPTBN4; STAC3; STIM1; SYNE1; SYNE2; SYT2; TCAP; TIA1; TK2; TMEM126B; TMEM43; TNNT1; TNPO3; TOR1AIP1; TPM2; TPM3; TRAPPC11; TRIM32; TRIM54; TRIM63; TTN; VCP; VMA21; VPS13A
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Neuropathy and nemaline myopathy
13 genesACTA1; BIN1; CFL2; KBTBD13; KLHL40; KLHL41; LMOD3; MTM1; MYPN; NEB; TNNT1; TPM2; TPM3
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Parkinson disease
44 genesATP13A2; ATP1A3; ATP6AP2; ATP7B; C19orf12; CHCHD2; DCTN1; DNAJC6; EIF4G1; FBXO7; FTL; FUS; GBA; GCH1; GIGYF2; GRN; HTRA2; LRRK2; MAPT; PANK2; PARK2; PARK7; PDGFB; PDGFRB; PINK1; PLA2G6; PRKRA; RAB39B; SLC20A2; SLC30A10; SLC39A14; SLC6A3; SNCA; SNCB; SPR; SYNJ1; TH; TMEM230; UCHL1; VPS13A; VPS13C; VPS35; WDR45; XPR1
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Periodic paralysis
5 genesCACNA1S; CLCN1; KCNE3; KCNJ2; SCN4A
530 EURDetails -
Spastic paraplegia
102 genesABCD1; AFG3L2; ALDH18A1; ALS2; AP4B1; AP4E1; AP4M1; AP4S1; AP5Z1; ARG1; ARL6IP1; ATAD3A; ATL1; ATP13A2; B4GALNT1; BICD2; BSCL2; BTD; C12orf65; C19orf12; CACNA1G; CAPN1; CCT5; COASY; CPT1C; CTNNB1; CYP27A1; CYP2U1; CYP7B1; DARS; DDHD1; DDHD2; DSTYK; ENTPD1; EPT1; ERLIN1; ERLIN2; EXOSC3; FA2H; FARS2; FXN; GALC; GBA2; GBE1; GCH1; GJC2; GPT2; HACE1; HSPD1; IBA57; IRF2BPL; KDM5C; KIAA0196; KIDINS220; KIF1A; KIF1C; KIF5A; KLC2; L1CAM; L2HGDH; LONP1; MAG; MARS; MARS2; NIPA1; NKX6-2; NT5C2; OPA3; PAH; PCYT2; PGAP1; PLP1; PNPLA6; RAB3GAP2; RARS; REEP1; REEP2; RTN2; SACS; SETX; SLC16A2; SLC1A4; SLC25A15; SLC33A1; SPAST; SPG11; SPG20; SPG21; SPG7; SPR; TECPR2; TFG; TH; TTR; TUBB3; UBAP1; UCHL1; USP8; VAMP1; VPS37A; ZFYVE26; ZFYVE27
615 EURDetails -
Spastic paraplegia, dominant
18 genesALDH18A1; AP4E1; ATL1; BSCL2; GJC2; HSPD1; KIAA0196; KIDINS220; KIF1A; KIF5A; NIPA1; REEP1; RTN2; SLC33A1; SPAST; SPG7; UBAP1; ZFYVE27
615 EURDetails -
Spastic paraplegia, dominant - small panel
5 genesATL1; KIF1A; REEP1; RTN2; SPAST
530 EURDetails -
Spastic paraplegia, recessive
48 genesAFG3L2; ALDH18A1; AP4B1; AP4E1; AP4M1; AP4S1; AP5Z1; ARL6IP1; ATP13A2; B4GALNT1; BSCL2; C12orf65; C19orf12; CAPN1; CCT5; CYP2U1; CYP7B1; DDHD1; DDHD2; DSTYK; ENTPD1; EPT1; ERLIN1; ERLIN2; FA2H; FARS2; GBA2; GJC2; GPT2; HACE1; HSPD1; IBA57; KIAA0196; KIDINS220; KIF1A; MAG; NT5C2; PCYT2; PNPLA6; SLC33A1; SPG11; SPG20; SPG21; SPG7; TECPR2; UCHL1; VPS37A; ZFYVE26
615 EURDetails -
Spina bifida occulta
3 genesFUZ; VANGL1; VANGL2
530 EURDetails -
Spinal muscular atrophy
33 genesAARS; AR; ASAH1; ASCC1; ATP7A; BICD2; BSCL2; CHCHD10; DCTN1; DNAJB2; DYNC1H1; DYSF; EXOSC3; EXOSC8; FBXO38; GARS; HEXA; HSPB1; HSPB3; HSPB8; IGHMBP2; KDSR; LAS1L; PLEKHG5; REEP1; SCO2; SLC5A7; TBCE; TRIP4; TRPV4; UBA1; VAPB; VRK1
615 EURDetails -
Walker-Warburg syndrome
14 genesB3GALNT2; B3GNT1; DAG1; FKRP; FKTN; GMPPB; ISPD; LARGE; POMGNT1; POMGNT2; POMK; POMT1; POMT2; TMEM5
615 EURDetails -
X-linked intellectual disabilities
111 genesABCD1; ACSL4; AFF2; AGTR2; AP1S2; ARHGEF6; ARHGEF9; ATP6AP2; ATP7A; ATRX; BCOR; BRWD3; CASK; CCDC22; CDKL5; CLCN4; CNKSR2; CUL4B; DCX; DDX3X; DKC1; DLG3; EIF2S3; ELK1; FANCB; FGD1; FLNA; FMR1; FRMPD4; FTSJ1; GDI1; GK; GPC3; GRIA3; HCCS; HPRT1; HSD17B10; HUWE1; IDS; IGBP1; IL1RAPL1; IQSEC2; KDM5C; KIAA2022; KLF8; L1CAM; LAMP2; LAS1L; MAGT1; MAOA; MBTPS2; MECP2; MED12; MID1; MTM1; NDP; NDUFA1; NHS; NKAP; NLGN3; NLGN4X; NONO; NSDHL; NXF5; OCRL; OFD1; OPHN1; OTC; PAK3; PCDH19; PDHA1; PGK1; PHF6; PHF8; PLP1; PORCN; PQBP1; PRPS1; PTCHD1; RAB39B; RBM10; RBMX; RLIM; RPL10; RPS6KA3; SHROOM4; SLC16A2; SLC6A8; SLC9A6; SLC9A7; SMC1A; SMS; SOX3; SRPX2; SYN1; SYP; TAF1; THOC2; TIMM8A; TSPAN7; UBE2A; UPF3B; USP9X; ZC4H2; ZCCHC12; ZDHHC15; ZDHHC9; ZNF41; ZNF674; ZNF711; ZNF81
615 EURDetails
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