Table 1.
Overview about hereditary neuropathies (updated until 31st August 2020)
| Gene | Disease | Phenotype | Frequency | Therapy |
| CMT/HMSN | ||||
| CMT1 (AD, demyelinating) | ||||
| PMP22 | CMT1A (dupl/del) | Classical CMT1, DSD, CHN | ∼40% of CMTs | symptomatic |
| MPZ | CMT1B | CMT1, DSD, CHN, CMT2 | ∼3% of CMT | symptomatic |
| LITAF | CMT1C | CMT1 | <1% of CMT | symptomatic |
| EGR2 | CMT1D | CMT1, DSD, CHN | <1% of CMT | symptomatic |
| PMP22 (exon 4) | CMT1E | CMT1 | <1% of CMT | symptomatic |
| NEFL | CMT1F | CMT1, CMT2 | <1% of CMT | symptomatic |
| FBLN5 | CMT1H | HMN, macula degeneration | <1% of CMT | symptomatic |
| ARHGEF10 | CMT1 | asymptomatic | <1% of CMT | none required |
| CMT2 (AD, axonal) | ||||
| MFN2 | CMT2A | CMT2, optic atrophy | ∼3% of CMT | symptomatic |
| RAB7 | CMT2B | CMT2, mutilating ulcers | <1% of CMT | symptomatic |
| TRPV4 | CMT2C | CMT2, vocal cord | <1% of CMT | symptomatic |
| GARS | CMT2D | CMT2 | <1% of CMT | symptomatic |
| NEFL | CMT2E | CMT2 | <1% of CMT | symptomatic |
| HSPB1 | CMT2F | CMT2 | <1% of CMT | symptomatic |
| MPZ | CMT2I | CMT2, late onset | <1% of CMT | symptomatic |
| MPZ | CMT2J | CMT2, hypoacusis, | <1% of CMT | symptomatic |
| GDAP1 | CMT2K | CMT2, late onset | <1% of CMT | symptomatic |
| HSPB8 | CMT2L | CMT2 | <1% of CMT | symptomatic |
| DNM2 | CMT2M | CMT2, im CMT, cataract, ptosis | <1% of CMT | symptomatic |
| AARS | CMT2N | CMT2 | <1% of CMT | symptomatic |
| LRSAM1 | CMT2P | CMT2 | <1% of CMT | symptomatic |
| DHTKD1 | CMT2Q | CMT2 | <1% of CMT | symptomatic |
| MME | CMT2T | CMT2 | <1% of CMT | symptomatic |
| MARS | CMT2U | CMT2, congenital | <1% of CMT | symptomatic |
| TFG | CMT2 | CMT2, proximal involvement | <1% of CMT | symptomatic |
| HARS | CMT2 | CMT2 | <1% of CMT | symptomatic |
| VCP | CMT2 | CMT2 | <1% of CMT | symptomatic |
| KIF5A | CMT2 | CMT | <1% of CMT | symptomatic |
| JAG1 | CMT2 | CMT2 | 2 families | symptomatic |
| CMT2 (AR, axonal) | ||||
| LMNA | CMT2B | CMT2 | <1% of CMT | symptomatic |
| TRIM2 | CMT2R | CMT2 | <1% of CMT | symptomatic |
| IGHMBP2 | CMT2S | CMT2 | <1% of CMT | symptomatic |
| HSJ1 | CMT2 | CMT2 | <1% of CMT | symptomatic |
| CMT4 (AR, demyelinating) | ||||
| GDAP1 | CMT4A | CMT2, vocal cord, diaphragm | <1% of CMT | symptomatic |
| MTMR2 | CMT4B1 | CMT1, facial, bulbar | <1% of CMT | symptomatic |
| SBF3 | CMT4B2 | CMT1, glaucoma | <1% of CMT | symptomatic |
| MTMR5 | CMT4B3 | CMT1 | <1% of CMT | symptomatic |
| SH3TC2 | CMT4C | CMT1, scoliosis | <1% of CMT | symptomatic |
| NDGR1 | CMT4D | CMT1, hypoacusis, gypsy | <1% of CMT | symptomatic |
| EGR2 | CMT4E | CMT1, DSD, CHN | <1% of CMT | symptomatic |
| PRX | CMT4F | CMT1, sensory dominant | <1% of CMT | symptomatic |
| HK1 | CMT4G | CMT1, gypsy | <1% of CMT | symptomatic |
| FGD4 | CMT4H | CMT1 | <1% of CMT | symptomatic |
| FIG4 | CMT4J | CMT1 | <1% of CMT | symptomatic |
| CTDP1 | CMT4 | CMT1, cataract, gypsy | <1% of CMT | symptomatic |
| SURF1 | CMT4 | CMT1 | <1% of CMT | symptomatic |
| CMT4 (X-linked) | ||||
| GJB1 | CMTX1 | CMT1 (males), CMT2 (females) | ∼3% of CMT | symptomatic |
| AIFM1 | CMTX4 | CMT2, hypoacusis, development ↓ | <1% of CMT | symptomatic |
| PRPS1 | CMTX5 | CMT2, hypoacusis, optic atrophy | <1% of CMT | symptomatic |
| PDK3 | CMTX6 | CMT2 | <1% of CMT | symptomatic |
| CMT intermediate (AD) | ||||
| DNM2 | CMTDIB | intermediate CMT or CMT2 | <1% of CMT | symptomatic |
| YARS | CMTDIC | intermediate CMT | <1% of CMT | symptomatic |
| MPZ | CMTDID | intermediate CMT | <1% of CMT | symptomatic |
| IFN2 | CMTDIE | intermediate CMT, renal failure | <1% of CMT | symptomatic |
| GNB4 | CMTDIF | intermediate CMT | <1% of CMT | symptomatic |
| CMT intermediate (AR) | ||||
| GDAP1 | CMTRIA | intermediate CMT | <1% of CMT | symptomatic |
| PLEKHG5 | CMTRIC | intermediate CMT | <1% of CMT | symptomatic |
| COX6A1 | CMTAID | intermediate CMT | <1% of CMT | symptomatic |
| SORD | CMTRI | intermediate CMT | <1% of CMT | symptomatic |
| HSN/HSAN | ||||
| HSN/HSAN (AD) | ||||
| SPTLC1 | HSAN1A | HSN, mutilating ulcers | rare | symptomatic |
| SPTLC2 | HSAN1C | HSN, mutilating ulcers | rare | symptomatic |
| RAB7 | CMT2B | HSN, mutilating ulcers | rare | symptomatic |
| ATL1 | HSN1D | HSN, mutilating ulcers | rare | symptomatic |
| DNMT1 | HSN1E | HSN, hypoacusis, dementia | rare | symptomatic |
| ATL3 | HSN1F | HSN, bone destruction | rare | symptomatic |
| SCN11A | HSAN7 | insensitivity to pain | rare | symptomatic |
| PRNP | HSAN | HSN, dementia | rare | symptomatic |
| HSN/HSAN (AR) | ||||
| WNK1 | HSAN2A | HSN, mutilating ulcers | rare | symptomatic |
| FAM134B | HSAN2B | HSN, mutilating ulcers | rare | symptomatic |
| KIF1A | HSAN2C | HSN, mutilating ulcers | rare | symptomatic |
| IKBKAP | HSAN3 | HSN, absent papillae, Jewish | rare | symptomatic |
| SCN9A | HSAN | insensitivity to pain, SFN | rare | symptomatic |
| NTRK1 | HSAN4 | insensitivity t6o pain | rare | symptomatic |
| NGF-B | HSAN5 | insensitivity to pain | rare | symptomatic |
| DST | HSAN6 | HSN, absent papillae, Jewish | rare | symptomatic |
| CCT5 | HSN | HSN, spastic paraplegia | rare | symptomatic |
| HMN | ||||
| HMN (AD) | ||||
| HSPB8 | HMN2A | HMN | rare | symptomatic |
| HSPB1 | HMN2B | HMN | rare | symptomatic |
| HSPB3 | HMN2C | HMN | rare | symptomatic |
| FBXO38 | HMN2D | HMN | rare | symptomatic |
| SETX | HMN | HMN, pyramidal signs | rare | symptomatic |
| GARS | HMN5A | hand wasting | rare | symptomatic |
| REEP1 | HMN5B | hand wasting, pyramidal signs | rare | symptomatic |
| IGHMBP2 | HMN6 | respiratory muscles | rare | symptomatic |
| SLC5A7 | HMN7A | HMN, vocal cord | rare | symptomatic |
| DCTN1 | HMN7B | HMN, facial, bulbar | rare | symptomatic |
| DYNC1H1 | SMALED | contractures, pyramidal signs | rare | symptomatic |
| BICD2 | SMALED2 | contractures, pyramidal signs | rare | symptomatic |
| TRPV4 | PNMHH | MHN, scapular winging | rare | symptomatic |
| AAR5 | HMN | HMN | rare | symptomatic |
| WARS | HMN | distal motor neuropathy | rare | symptomatic |
| HMN (AR) | ||||
| HINT1 | HMN | HMN | rare | symptomatic |
| VRK1 | HMN | distal motor neuropathy | rare | symptomatic |
| SORD | HMN | distal motor neuropathy, diabetes | rare | symptomatic |
| SIGMAR1 | HMN | motor neuropathy, pyramidal signs | rare | symptomatic |
| HMN (XL) | ||||
| LAS1L | SMAX | respiratory muscles | rare | symptomatic |
| ATP7A | SMAX3 | HMN | rare | symptomatic |
| Other | ||||
| GAN | GAN | NP, progressive, multisystem dis | rare | symptomatic |
| PMP22 | HNPP | liability to pressure palsies | frequent | symptomatic |
| PMP22 | plexopathy | painless plexopathy | rare | symptomatic |
| SEPT9 | plexopathy | painless plexopathy | rare | symptomatic |
| TTR | SFN | sensory, not progressing to LFN | rare | tafamidis, patisiran |
| SPTLC2 | SFN | sensory, not progressing to LFN | rare | symptomatic |
| POLG1 | SFN | sensory, not progressing to LFN | rare | symptomatic |
| SCN9A | SFN | sensory, progressing to LFN | rare | symptomatic |
| SCN10A | SFN | sensory, progressing to LFN | rare | symptomatic |
| SCN11A | SFN | sensory, progressing to LFN | rare | symptomatic |
| COL6A5 | SFN | sensory, progressing to LFN | rare | Symptomatic |
| SPTBN4 | axonal neuropathy | motor, myopathy, hypoacusis | rare | Symptomatic |
CHN: congenital hypomyelinating neuropathy, DSD: Dejerine-Sottas disease, HMN: hereditary motor neuropathy, im: intermediate, SFN: small fiber neuropathy, SMA: spinal muscular atrophy.