Molecular Genetic Diagnostics

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Neuropathies

Prof. Dr. Bernd Rautenstrauß, PD Dr. med. Angela Abicht

Hereditary Motor and Sensory Neuropathy, Overview, HMSN, CMT

Hereditary Neuropathy with liability to Pressure Palsies, HNPP - PMP22

Hereditary Motor and Sensory Neuropathy Type 1, HMSN1, CMT1A - PMP22

Hereditary Motor and Sensory Neuropathy, HMSNX, CMTX1, CMTX5 - Cx32, GJB1, PRPS1

Hereditary Motor and Sensory Neuropathy - MPZ

Hereditary Motor and Sensory Neuropathy, CMT4C (Demyelinating) - SH3TC2

Hereditary Motor and Sensory Neuropathy with Cataract - HYCCIN

Congenital Cataract Facial Dysmorphism Neuropathy Syndrome, CCFDN - CTDP1

Hereditary Motor and Sensory Neuropathy Type 2, HMSN2, CMT2A2 (axonal) - MFN2

Hereditary Motor and Sensory Neuropathy Type 2, HMSN2, CMT2B1 (axonal) - LMNA

Hereditary Motor and Sensory Neuropathy, CMT2, Seipin - BSCL2 (exon 3)

Hereditary Motor and Sensory Neuropathy, CMT2B2 - MED25

Other HMSN/CMT genes: EGR2, FGD4, NEFL, LITAF/SIMPLE, NDRG1, PRX, GDAP1, RAB7, HSPB1, HSPB8, DNM2, YARS, KARS, TRPV4, AARS, FIG4, MTMR2, SBF2

Distal Hereditary Motor Neuropathies, dHMN - HSPB8, HSBP3, GARS, DCTN1, SETX, BSCL2 (exon 3)

Giant Axon Neuropathy, GAN1 - GAN

Hereditary Sensory and Autonomic Neuropathy Type 1, HSAN1 - SPTLC1, SPTLC2

Hereditary Sensory and Autonomic Neuropathy Type 2, HSAN2 - WNK1

Hereditary Sensory and Autonomic Neuropathy Types 4 and 5, HSAN4, 5 - NTRK1, NGFB

Hereditary Neuralgic Amyotrophy, HNA - SEPT9

Erythermalgia and Pain Tolerance - SCN9A

Andermann Syndrome, ACCPN - KCC3, SLC12A6

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