Neurogenetics / neuromuscular diseases

Neurogenetic and neuromuscular diseases are characterised by an extraordinary genetic diversity and so far mutations in more than hundreds of genes causing these diseases have been described. Over the past years it has been revealed that mutations in a gene of this disease spectrum can lead to clinical overlapping or even completely different clinical pictures. For these reasons, it can be useful to examine several disease-related genes in parallel within a so-called “Panel analysis”.

In addition to the molecular genetic diagnostics it is possible to connect our patients with the neuro-muscular centre in an interdisciplinary manner. Furthermore neurogenetic diseases form a scientific focus of our institute and are funded by third-party projects.

Total panel (291 genes)

AAAS, AARS, ABHD12, ACP33, ACTA1, AIFM1, ALS2, AMPD2, ANG, ANO5, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARHGEF10, ARL6IP1, ARSI, ASAH1, ATL1, ATL2, ATL3, ATP7A, B3GNT1, B4GALNT1, BAG3, BICD2, BIN1, BSCL2, BSCL2, BVES, C9ORF72, C10ORF2, C12ORF65, C19ORF12, C21ORF2, CAPN1, CAPN3, CASQ1, CAV3, CCDC78, CCNF, CFL2, CHCHD10, CHKB, CHMP2B, CLTCL1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COX6A1, CRYAB, CTDP1, CYP2U1, CYP7B1, DAG1, DCAF8, DCTN1, DDHD1, DDHD2, DES, DGAT, DHTKD1, DMD, DNA2, DNAJB2, DNAJB6, DNM2, DNMT1, DPM1, DPM2, DST, DYNC1H1, DYSF, EGR2, EMD, ENTPD1, ERBB4 , ERLIN1, ERLIN2, EXOSC3, EXOSC8, FA2H, FAM134B, FBLN5, FBXO38, FGD4, FHL1, FIG4, FKBP14, FKRP, FKTN, FLNC, FLVCR1, FUS, GAD1, GAN, GARS, GBA2, GDAP1, GJB1, GJC2, GLA, GLE1, GMPPA, GMPPB, GNB4, GNE, HACD1, HARS, HINT1, HK1, HNRNPA1, HNRNPA2B1, HNRPDL, HSPB1, HSPB3, HSPB8, HSPD1, IGHMBP2, IKBKAP, INF2, ISCU, ISPD, ITGA7, KARS, KBTBD13, KCNA2, KIAA0196, KIAA1840, KIF1A, KIF1B, KIF1C, KIF5A, KLC2, KLHL40, KLHL41, L1CAM, LAMA2, LAMP2, LARGE, LDB3, LGMD1H, LIMS2, LITAF, LMNA, LMNB1, LMOD3, LRSAM1, MARS, MATR3, MED25, MEGF10, MFN2, MICU1, MME, MORC2, MPZ, MTM1, MTMR2, MYF6, MYH2, MYH7, MYOT, NAGLU, NDRG1, NEB, NEFH, NEFL, NEK1, NGFB, NIPA1, NT5C2, NTRK1, OPA1, OPTN, ORAI1, PABPN1, PDK3, PFN1, PGAP1, PGN, PLEC1, PLEC1, PLEKHG5, PLEKHG5, PLP1, PMP22, PNKP, PNPLA6, POLG, POLG2, POMGNT1, POMK, POMT1, POMT2, PRDM12, PRPH, PRPS1, PRX, PTRF, PUS1, RAB3GAP2, RAB7A, REEP1, REEP1, REEP2, RNF170, RRM2B, RTN2, RYR1, SBF1, SBF2, SCN9A, SCN10A, SCN11A, SEPN1, SEPT9, SETX, SGCA, SGCB, SGCD, SGCG, SH3TC2, SIGMAR1, SIL1, SLC16A2, SLC25A46, SLC33A1, SLC5A1, SMN1, SOD1, SOX10, SPAST, SPEG, SPG11, SPG20, SPTLC1, SPTLC2, SQSTM1, STAC3, STIM1, SUCLA2, SURF1, SYNE1, SYNE2, TAF15, TARDBP, TBK1, TCAP, TDP1, TECPR2, TFG, TIA1, TK2, TMEM173, TMEM43, TMEM5, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRPA1, TRPV4, TSEN54, TTN, TTR, TUBA4A, UBE1, UBQLN2, USP8, VABP, VAPB, VCP, VMA21, VPS37A, VRK1, WDR48, WNK1, YARS, YARS2, ZFR, ZFYVE26, ZFYVE27

Sub-panels:

  • ALS - C9orf72-Repeatbestimmung
  • ALS - 25 kb-Panel: SOD1, FUS, TARDBP, ALS2, ANG, SETX, VAPB, CHHD10 incl. C9orf72-Repeatbestimmung
  • ALS - Gesamtpanel (34 Gene):
    C9ORF72, FUS, SOD1, TARDBP
    , ALS2, ANG, C9ORF72, C21ORF2, CCNF, CHCHD10, CHMP2B, ERBB4, FIG4, FUS, GLE1, HNRNPA1, KIF5A, LMNB1, MATR3, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SQSTM1, TAF15, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP

Auftrag und Einwilligung zur genetischen Diagnostik

  • HSP - 25 kb-Panel: ATL1, SPAST, REEP1, SPG7, SPG11, KIF5A, CYP7B1, KIAAO196, ALS2, PLP1
  • HSP - Gesamtpanel (55 Gene):
    ATL1 (SPG3), SPAST (SPG4), CYP7B1 (SPG5), PGN (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZFYVE26 (SPG15), REEP1 (SPG31), ACP33, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, B4GALNT1, C12ORF65, C19ORF12, CAPN1, CYP2U1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, FA2H, GAD1, GBA2, GJC2, HSPD1, KCNA2, KIAA0196, KIAA1840, KIF1C, KLC2, L1CAM, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP2, RTN2, SLC16A2, SLC33A1, SPG20, USP8, VPS37A, WDR48, ZFR, ZFYVE26, ZFYVE27

Auftrag und Einwilligung zur genetischen Diagnostik

  • CMT1 Stufendiagnostik:
         1. PMP22-Duplikation
         2. 25 kb-Panel: GDAP1, IGHMBP2, MFN2, PRX, SH3TC2, DNM2
             GJB1, MPZ, PMP22-PM, NEFL, LITAF/SIMPLE
     
  • CMT2 Stufendiagnostik:
         1. PMP22-Duplikation
         2. 25 kb-Panel:GARS, HSPB1, IGHMBP2, RAB7A, LMNA, MFN2, GJB1, MPZ, GDAP1, NEFL, BSCL2, TRPV4, DNM2, AARS
     
  • CMT Mischformen Stufendiagnostik:
        1. PMP22-Duplikation
        2. 25 kb-Panel: BSCL2, GDAP1, GJB1, IGHMBP2, LITAF, MFN2, MPZ, NEFL, PMP22-PM, PRX, SH3TC2
     
  • CMT –Gesamtpanel
    Hauptgene CMT1 (demyelinisierend): DNM2, GJB1, PMP22, LITAF/SIMPLE, MPZ, NEFL
    Hauptgene CMT2 (axonal): BSCL2, GDAP1, MFN2, MPZ, PMP22, NEFL, TRPV4
    Weitere Gene: AARS, ABHD12, AIFM1, ARHGEF10, COX6A1, CTDP1, DCAF8, DCTN1, DGAT, DHTKD1, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GAN, GARS, GNB4, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIF1B, KIF5A, LRSAM1, MARS, MED25, MME, MORC2, MTMR2, NDRG1, NEFH, PDK3, PLEKHG5, PNKP, PRPS1, PRX, REEP1, SBF1, SBF2, SEPT9, SH3TC2, SLC25A46, SOX10, SPG11, SURF1, TDP1, TFG, TRIM2, VCP, YARS

Auftrag und Einwilligung zur genetischen Diagnostik

  • Gliedergürtelmuskeldystrophien (LGMD)25 kb-Panel:ANO5, CAPN3, CAV3, DYSF, FRKP, SGCA, SGCB, SGCD, SGCG
  • Muskeldystrophie Typ Ullrich/Bethlem:25 kb-Panel:COL6A1, COL6A2, COL6A3
  • Emery-Dreifuss-Muskeldystrophie 25 kb-Panel:EMD, LMNA, SYNE1, SYNE1, TMEM43
  • MuskeldystrophieGesamtpanel (43 Gene)
    Gliedergürtelmuskeldystrophien: ANO5, BVES, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKRP, FKTN, GMPPB, HNRNPDL, ISPD, LGMD1H, LIMS2, PLEC1, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN
    Weitere Gene: B3GNT1, CHKB, DMD, DPM1, DPM2, ITGA7, LAMA2, LARGE, LMNA, PABPN1, PTRF, SEPN1, TMEM5

Auftrag und Einwilligung zur genetischen Diagnostik

  • Einschlusskörpermyopathie25 kb-Panel:DES, GNE, MYH2, MYOT, SQSTM1, VCP
  • Myofibrilläre Myopathie25 kb-Panel:BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT
  • Nemaline Myopathie25 kb-Panel:NEB, TPM3
  • Zentronukleäre Myopathie25 kb-Panel:BIN1, DNM2, MTM1, MTMR14, RYR1
  • MyopathieGesamtpanel (60 Gene)
    Bethlem Myopatie: COL6A1, COL6A2, COL6A3, COL12A1
    Myofibrilläre Myopathie: BAG3, CRYAB, DES, FLNC, LDB3, MYOT
    Nemaline Myopathien: ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3
    Zentronukläre Myopathien: BIN1, CCDC78, DNM2, MYF6, RYR1, SPEG
    Weitere Gene: C10ORF2, CASQ1, CHCHD10, CNTN1, DNA2, FHL1, FKBP14, GNE, HACD1, HNRNPA1, HNRNPA2B1, ISCU, LAMP2, MEGF10, MICU1, MTM1, MYH2, MYH7, OPA1, ORAI1, PABPN1, POLG, POLG2, PUS1, RRM2B, SEPN1, SIL1, STAC3, STIM1, SUCLA2, TIA1, TK2, VMA21, YARS2

Auftrag und Einwilligung zur genetischen Diagnostik

  • HSAN Typ 1 25 kb-Panel:SPTLC1,SPTLC2,RAB7A, ATL1, ATL3, DNMT1
  • HSAN Typ 2 25 kb-Panel:WNK1/HSN2, FAM134B,KIF1A, SCN9A
  • HSAN Typ 3-8 25 kb-Panel:IKBKAP, NTRK1, NGFB, DST, SCN11A, PRDM12
  • HSANGesamtpanel (29 Gene)
    Dominant: ATL1, ATL3, DNMT1, RAB7A, SPTLC1, SPTLC2
    Rezessiv: CLTCL1, DST, FAM134B, FLVCR1, GLA, IKBKAP, KIF1A, NGF, NTRK1, PRDM12, WNK1
    Ionenkanalerkrankungen: SCN9A, SCN10A, SCN11A, TRPA1
    Sonstige: AAAS, ARL6IP1, GMPPA, NAGLU, RNF170, TECPR2, TMEM173, TTR

Auftrag und Einwilligung zur genetischen Diagnostik

  • SFN 25 kb-Panel:ATL1, GLA, SCN9A, SCN10A, SCN11A, TTR, TRPA1

Auftrag und Einwilligung zur genetischen Diagnostik

  • Differentialdiagnose zur SMN1-assoziierten SMA 25 kb-Panel:BICD2, BSCL2, CHCHD10, DNAJB2, GARS, HSPB8, IGHMBP2, REEP1, TRPV4, UBA1
  • SMA Gesamtpanel (23 Gene)
    ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, FBXO38, GARS, HSPB8, IGHMBP2, PLEKHG5, REEP1, SLC5A1, SMN1, TPG, TRPV4, TSEN54, UBE1, VABP, VRK1

Auftrag und Einwilligung zur genetischen Diagnostik

S1 Leitlinie Spinale Muskelatrophie

Further information

  • Depending on clinical symptoms an individual selection of genes can be analysed using NGS-Panel. For this we ask for short consultation (humangenetikukaachende or by phone +49 241 80-89178 or 80-80427).
  • For some genes allelic diseases are described, this means some mutations in one gene can lead to different clinical symptoms and therefore to different diagnoses. Some genes may only be listed in one of the sub-panels, but are also offered by us. For this please note the alphabetic list of the entire panel.

* Partly in staged diagnostics (see also individual gene analyzes on the request form, partly as copy number analysis (MLPA))