Gen-Panel
Charcot-Marie-Tooth-Neuropathie (CMT, HMSN), umfassende Diagnostik: ID312.02, 87 Gene
AARS1,
AIFM1,
ARHGEF10,
ATP1A1,
ATP7A,
BSCL2,
CADM3,
CNTNAP1,
COQ7,
COX6A1,
DCTN1,
DHTKD1,
DNAJB2,
DNM2,
DYNC1H1,
EGR2,
EMILIN1,
FBLN5,
FBXO38,
FGD4,
FIG4,
GAN,
GARS1,
GBF1,
GDAP1,
GJB1,
GNB4,
HARS1,
HINT1,
HK1,
HSPB1,
HSPB3,
HSPB8,
IGHMBP2,
INF2,
ITPR3,
JAG1,
JPH1,
KARS1,
KIF1B,
LITAF,
LMNA,
LRSAM1,
MARS1,
MED25,
MFN2,
MME,
MORC2,
MPV17,
MPZ,
MTMR2,
NAGLU,
NDRG1,
NEFH,
NEFL,
PDK3,
PDXK,
PLEKHG5,
PMP2,
PMP22,
PNKP,
POLR3B,
PRPS1,
PRX,
RAB7A,
REEP1,
SBF1,
SBF2,
SETX,
SH3TC2,
SIGMAR1,
SLC5A7,
SLC12A6,
SLC25A46,
SORD,
SPG11,
SPTAN1,
SPTLC1,
SURF1,
SYT2,
TRIM2,
TRPV4,
VCP,
VRK1,
VWA1,
WARS1,
YARS1
Inkludierte Phänotypen
Charcot-Marie-Tooth-Neuropathie, axonal (CMT2, HMSN2): 35 Gene
AARS1,
ATP1A1,
CADM3,
DHTKD1,
DNM2,
DYNC1H1,
GARS1,
GBF1,
GDAP1,
HARS1,
HSPB1,
HSPB8,
IGHMBP2,
JAG1,
JPH1,
KIF1B,
LMNA,
LRSAM1,
MARS1,
MED25,
MFN2,
MME,
MORC2,
MPV17,
MPZ,
NAGLU,
NEFH,
NEFL,
PNKP,
RAB7A,
SLC12A6,
SPG11,
TRIM2,
TRPV4,
VCP
Charcot-Marie-Tooth-Neuropathie, demyelinisierend (CMT1, CMT4, HMSN1): 20 Gene
EGR2,
FBLN5,
FGD4,
FIG4,
GDAP1,
HK1,
ITPR3,
LITAF,
MPZ,
MTMR2,
NDRG1,
NEFL,
PMP2,
PMP22,
POLR3B,
PRX,
SBF1,
SBF2,
SH3TC2,
SURF1
Charcot-Marie-Tooth-Neuropathie, intermediär (CMTDI, CMTRI): 11 Gene
COX6A1,
DNM2,
GDAP1,
GJB1,
GNB4,
INF2,
KARS1,
MPZ,
NEFL,
PLEKHG5,
YARS1
Charcot-Marie-Tooth-Neuropathie, X-chromosomal (CMTX, HMSN): 4 Gene
AIFM1,
GJB1,
PDK3,
PRPS1
Distale motorische Neuropathie (HMND, HMNR): 24 Gene
ATP7A,
BSCL2,
COQ7,
DCTN1,
DNAJB2,
EMILIN1,
FBXO38,
GARS1,
HSPB1,
HSPB3,
HSPB8,
IGHMBP2,
PLEKHG5,
REEP1,
SETX,
SIGMAR1,
SLC5A7,
SORD,
SPTAN1,
SYT2,
TRPV4,
VRK1,
VWA1,
WARS1
Hypertrophe Déjerine-Sottas-Neuropathie (CMT3, DSS): 4 Gene
EGR2,
MPZ,
PMP22,
PRX
Kongenitale hypomyelinisierende Neuropathie (CHN): 3 Gene
CNTNAP1,
EGR2,
MPZ
Periphere Neuropathie mit Optikusatrophie (CMT6, HMSN6): 3 Gene
MFN2,
PDXK,
SLC25A46
HPO Terms
Distal muscle weakness, Foot drop, Pes cavus, Peripheral neuropathy, Sensory loss, Nerve conduction velocity decreased, Nerve conduction study slowed, Muscle atrophy, Decreased ankle reflexes, Loss of vibration sense, Loss of proprioception, Foot deformity, Hand weakness, Axonal neuropathy, Demyelinating neuropathy, Sensory ataxia, Hyporeflexia, Absent reflexes, Foot pain, Abolished vibration sense
