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
- 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
- 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
- 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
- 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
- Muskeldystrophie – Gesamtpanel (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
- 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
- Myopathie – Gesamtpanel (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
- 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
- HSAN–Gesamtpanel (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
- 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
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))
