Introduction
CMT is not just one disease. Dozens of genes have been linked to Charcot-Marie-Tooth disease and the neuropathies related to it, and each one comes with a tangle of names: the old types and subtypes (CMT1A, CMT2N, CMTX1), the gene symbols, and newer disease names from ontologies like Mondo.1 I haven’t found an open, downloadable table that lines them up with how strong the evidence is for each gene, so this page is an attempt at one.
The evidence ratings come from ClinGen’s CMT expert panel, whose scope is a little wider than CMT itself. It also covers hereditary sensory and autonomic neuropathies (HSAN), distal hereditary motor neuropathies (dHMN), and a few genes outside CMT proper. Some genes reported with CMT, such as NDRG1 and LMNA, are missing because the panel hasn’t curated them yet. So this isn’t a complete list of CMT genes, and a gene’s absence here isn’t evidence against it.
This is not medical advice or a diagnostic tool. It summarizes public curation data to help you find your way around the names. If you have a genetic result, a clinician or genetic counsellor should interpret it.
How to Read the Table
- Gene is the official HGNC gene symbol.
- Subtype names are the conventional names for the disease ClinGen rated in that row, converted from Mondo disease names and matched to the OMIM phenotypes ClinGen includes in its curation. Names in italics are linked to the same gene but not covered by that row’s rating, or come from older or unverified associations. A dash means no lettered subtype name was found.
- ClinGen disease is the disease the gene was evaluated for by ClinGen’s Charcot-Marie-Tooth Disease Gene Curation Expert Panel.
- ClinGen rating is how strong the evidence is that the gene causes that disease: Definitive, Strong, Moderate, Limited or Disputed.2 A rating describes the link between a gene and a disease. It doesn’t apply to every variant in the gene, and it says nothing about how severe the disease is or whether a treatment works. It links to ClinGen’s page for the gene, and the year shows when the curation was made.
- Inheritance is how the condition passes through families: dominant, recessive, semidominant or X-linked.
Why are there so many naming systems?
The old CMT types grew up one discovery at a time. Jean-Martin Charcot and Pierre Marie described the disease in France in 1886, and Howard Henry Tooth, working separately in Cambridge, described it the same year and placed the damage in the peripheral nerves.3 In 1968, Peter Dyck and Edward Lambert sorted families into types by inheritance, course, nerve conduction speed and nerve biopsy findings.4 In 1980, Anita Harding and P. K. Thomas drew the line that still separates CMT1 from CMT2: a motor nerve in the forearm (the median nerve) that conducts slower than 38 metres per second points to the demyelinating type 1, and a faster one to the axonal type 2.5 The letters came with genetics. In 1991, James Lupski and colleagues found the duplication on chromosome 17 behind CMT1A,6 and the genes and gene locations found after that took the next letter in their type. So the names record the order of discovery more than how the diseases relate.
In 2018, Magy and colleagues surveyed CMT specialists about replacing them with names built on the gene and the inheritance pattern. About two-thirds of those who answered favoured a change.7 That debate is still open, so the table shows both.
Data Sources
The gene list, diseases and ratings come unchanged from ClinGen, which releases its curations into the public domain. ClinGen’s method is described by Strande and colleagues. The subtype names come from Mondo, an open disease ontology, through the Monarch Initiative. A short script converts Mondo’s disease names into the familiar short forms. Nothing is filled in from memory, and names that need a human check are flagged in the downloadable table.
For clinical detail on each gene, two hand-built references go further than this table: the Washington University Neuromuscular Disease Center’s page on hereditary motor and sensory neuropathies and the GeneTable of Neuromuscular Disorders, edited by Gisèle Bonne and François Rivier. I haven’t found a reusable bulk download on either site, which is the gap this table tries to fill.
The table and the scripts that build it are on GitHub. The data is under CC BY 4.0. Each monthly version is archived at Zenodo with a DOI, 10.5281/zenodo.23371750, and indexed by OpenAIRE, so you can cite the exact version you used. A monthly job is set up to check ClinGen, Mondo, GeneReviews and PanelApp for changes, though it hasn’t completed a run yet. Corrections are logged with dates. If you spot an error, tell me.
Download, Cite or Reuse the Data
The full table has more than the five columns below: GeneReviews and PanelApp links, registered trials, a plain-language note for each gene, and Mondo and OMIM IDs. Search, sort and download it as Excel, CSV or JSON on its data page, or get the scripts and the source for every value on GitHub. Each monthly release is archived with its own DOI.
CMT Genes, Subtype Names and ClinGen Ratings
| Gene | Subtype names | ClinGen disease | Inheritance | ClinGen rating |
|---|---|---|---|---|
| AARS1 | CMT2N | Charcot-Marie-Tooth disease axonal type 2N | Dominant | Definitive (2024) |
| ARHGEF10 | — | autosomal dominant slowed nerve conduction velocity | Dominant | Limited (2026) |
| ATL1 | HSN1D | neuropathy, hereditary sensory, type 1D | Dominant | Definitive (2022) |
| ATL3 | HSN1F | neuropathy, hereditary sensory, type 1F | Dominant | Moderate (2026) |
| ATP1A1 | CMT2DD | Charcot-Marie-tooth disease, axonal, type 2DD | Dominant | Definitive (2026) |
| ATP7A | X-linked dHMN3 | X-linked distal spinal muscular atrophy type 3 | X-linked | Moderate (2026) |
| BSCL2 | dHMN5C | distal hereditary motor neuropathy | Dominant | Definitive (2022) |
| CADM3 | CMT2FF | Charcot-Marie-Tooth disease, axonal, type 2FF | Dominant | Moderate (2026) |
| COQ7 | HMNR9 | distal hereditary motor neuropathy | Recessive | Strong (2026) |
| DNAJB2 | HMNR5, dSMA5 | neuronopathy, distal hereditary motor, autosomal recessive 5 | Recessive | Definitive (2026) |
| DNM2 | CMTDIB Older or unverified: CMT2M. | Charcot-Marie-Tooth disease | Dominant | Definitive (2020) |
| DST | HSAN6 | hereditary sensory and autonomic neuropathy type 6 | Recessive | Definitive (2021) |
| DYNC1H1 | CMT2O | distal hereditary motor neuropathy | Dominant | Definitive (2026) |
| EGR2 | CMT4E, CMT1D, CMT3, DSS | Charcot-Marie-Tooth disease | Semidominant | Definitive (2021) |
| ELP1 | HSAN3 | Riley-Day syndrome | Recessive | Moderate (2025) |
| FBLN5 | CMT1H8 | demyelinating hereditary motor and sensory neuropathy | Dominant | Moderate (2026) |
| FBXO38 | dHMN2D | distal hereditary motor neuropathy | Dominant | Moderate (2026) |
| FGD4 | CMT4H | Charcot-Marie-Tooth disease | Recessive | Definitive (2020) |
| FIG4 | CMT4J | Charcot-Marie-Tooth disease | Recessive | Definitive (2025) |
| GAN | — | giant axonal neuropathy 1 | Recessive | Definitive (2022) |
| GARS1 | CMT2D, dHMN5A | Charcot-Marie-Tooth disease type 2D | Dominant | Definitive (2023) |
| GDAP1 | CMT2K, CMTRIA, CMT4A Older or unverified: CMT2H. | Charcot-Marie-Tooth disease | Semidominant | Definitive (2020) |
| GJB1 | CMTX1 | Charcot-Marie-Tooth disease X-linked dominant 1 | X-linked | Definitive (2020) |
| GNB4 | CMTDIF | Charcot-Marie-Tooth disease | Dominant | Moderate (2026) |
| HINT1 | ARCMT2-NM9 | Charcot-Marie-Tooth disease | Recessive | Definitive (2021) |
| HSPB1 | CMT2F Other names, not rated here: dHMN2B. | Charcot-Marie-Tooth disease axonal type 2F | Dominant | Definitive (2022) |
| HSPB8 | CMT2L, dHMN2A | neuronopathy, distal hereditary motor, autosomal dominant | Dominant | Definitive (2021) |
| IGHMBP2 | CMT2S, SMARD1, dHMN6, dSMA1 | hereditary peripheral neuropathy | Recessive | Definitive (2023) |
| INF2 | CMTDIE | Charcot-Marie-Tooth disease dominant intermediate E | Dominant | Definitive (2021) |
| ITPR3 | CMT1J | Charcot-Marie-Tooth disease, demyelinating, type 1J | Dominant | Definitive (2026) |
| KIF1B | CMT2A1 | Charcot-Marie-Tooth disease type 2A1 | Dominant | Limited (2026) |
| KIF5A | — | inherited neurodegenerative disorder | Dominant | Definitive (2023) |
| LITAF | CMT1C | Charcot-Marie-Tooth disease | Dominant | Definitive (2026) |
| LRSAM1 | CMT2P | Charcot-Marie-Tooth disease axonal type 2P | Dominant | Definitive (2023) |
| MARS1 | CMT2U | Charcot-Marie-Tooth disease | Dominant | Limited (2026) |
| MCM3AP | — | peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | Recessive | Definitive (2023) |
| MED25 | CMT2B210 | Charcot-Marie-Tooth disease type 2B2 | Recessive | Disputed (2021) |
| MFN2 | CMT2A2, CMT2A2B11 Other names, not rated here: HMSN6A. Older or unverified: CMT5. | Charcot-Marie-Tooth disease type 2A2 | Semidominant | Definitive (2026) |
| MME | CMT2T | Charcot-Marie-Tooth disease type 2T | Recessive | Definitive (2026) |
| MORC2 | CMT2Z | Charcot-Marie-Tooth disease axonal type 2Z | Dominant | Definitive (2023) |
| MPZ | CMT2J, CMT2I, Roussy-Levy syndrome, CMT3, DSS, CMTDID, CMT1B, CHN2 | Charcot-Marie-Tooth disease | Dominant | Definitive (2020) |
| MTMR2 | CMT4B1 | demyelinating hereditary motor and sensory neuropathy | Recessive | Definitive (2020) |
| NEFH | CMT2CC | Charcot-Marie-Tooth disease axonal type 2CC | Dominant | Definitive (2020) |
| NEFL | CMT1F12 Other names, not rated here: CMT2E, CMTDIG. Older or unverified: CMT2B5. | Charcot-Marie-Tooth disease | Dominant | Definitive (2023) |
| NEFL | CMT2E13 Other names, not rated here: CMT1F, CMTDIG. Older or unverified: CMT2B5. | Charcot-Marie-Tooth disease type 2 | Recessive | Definitive (2023) |
| NGF | HSAN5 | hereditary sensory and autonomic neuropathy | Recessive | Strong (2023) |
| NTRK1 | HSAN414 Older or unverified: HSAN5. | hereditary sensory and autonomic neuropathy type 4 | Recessive | Definitive (2021) |
| PDK3 | CMTX6 | Charcot-Marie-Tooth disease X-linked dominant 6 | X-linked | Definitive (2024) |
| PLEKHG5 | HMNR4, dSMA4, CMTRIC | neuromuscular disease | Recessive | Definitive (2023) |
| PMP2 | CMT1G | Charcot-Marie-Tooth disease | Dominant | Moderate (2025) |
| PMP22 | CMT1A, Roussy-Levy syndrome15 Other names, not rated here: CMT1E, CMT3, DSS, HNPP. | Charcot-Marie-Tooth disease type 1A | Dominant | Definitive (2022) |
| PMP22 | HNPP16 Other names, not rated here: CMT1E, CMT1A, Roussy-Levy syndrome, CMT3, DSS. | hereditary neuropathy with liability to pressure palsies | Dominant | Definitive (2024) |
| PRX | CMT3, DSS, CMT4F | Charcot-Marie-Tooth disease type 4 | Recessive | Definitive (2023) |
| RAB7A | CMT2B | Charcot-Marie-Tooth disease type 2 | Dominant | Definitive (2022) |
| RETREG1 | HSAN2B | hereditary sensory and autonomic neuropathy | Recessive | Definitive (2024) |
| SBF1 | CMT4B3 | Charcot-Marie-Tooth disease type 4B3 | Recessive | Moderate (2026) |
| SBF2 | CMT4B2 | Charcot-Marie-Tooth disease type 4B2 | Recessive | Definitive (2021) |
| SCN11A | HSAN717 | hereditary sensory and autonomic neuropathy type 7 | Dominant | Definitive (2026) |
| SCO2 | — | Charcot-Marie-Tooth disease | Recessive | Moderate (2026) |
| SEPTIN9 | — | neuralgic amyotrophy | Dominant | Moderate (2026) |
| SETX | — | distal hereditary motor neuropathy | Dominant | Definitive (2022) |
| SH3TC2 | CMT4C | Charcot-Marie-Tooth disease type 4C | Recessive | Definitive (2026) |
| SLC25A46 | HMSN6B | neuropathy, hereditary motor and sensory, type 6B | Recessive | Definitive (2020) |
| SLC5A7 | dHMN7A | neuronopathy, distal hereditary motor, type 7A | Dominant | Moderate (2026) |
| SORD | HMNR818 | Charcot-Marie-Tooth disease | Recessive | Definitive (2023) |
| SPTLC1 | HSAN1A | neuropathy, hereditary sensory and autonomic, type 1A | Dominant | Definitive (2026) |
| SPTLC2 | HSAN1C | neuropathy, hereditary sensory and autonomic, type 1C | Dominant | Definitive (2023) |
| SYT2 | — | congenital myasthenic syndrome 7 | Dominant | Moderate (2023) |
| TRPV4 | CMT2C, HMND8 | neuromuscular disease | Dominant | Definitive (2021) |
| WARS1 | dHMN9 | distal hereditary motor neuropathy | Dominant | Limited (2026) |
| WNK1 | HSAN2A | neuropathy, hereditary sensory and autonomic, type 2A | Recessive | Definitive (2023) |
| YARS1 | CMTDIC | Charcot-Marie-Tooth disease | Dominant | Definitive (2020) |
Correction, October 13, 2026: An independent review found that subtype names and trials had been matched to genes rather than to the specific disease ClinGen rated. Names are now matched to each curation, with other names for the same gene shown in italics. This changed the rows for DNM2, GDAP1, HSPB1, MFN2, NEFL, NTRK1, PMP22 and SCN11A, and the downloadable data no longer lists CMT1A trials under HNPP.
Notes
- Mondo, the Mondo Disease Ontology, is an open classification of about 23,000 human diseases. It merges and cross-references disease terms from OMIM, Orphanet, the Disease Ontology and other sources, so that one ID stands for the same disease across all of them. Its name comes from the Latin mundus, “world,” and it is released under CC BY 4.0. Mondo Disease Ontology, accessed October 13, 2026, https://mondo.monarchinitiative.org/; Vasilevsky et al. 2026, https://doi.org/10.1093/genetics/iyaf215. ↩︎
- ClinGen scores the published genetic and experimental evidence for each gene-disease pair. Definitive, Strong, Moderate and Limited describe how much evidence supports the link. Disputed means significant evidence contradicts it. Strande et al. 2017, https://doi.org/10.1016/j.ajhg.2017.04.015. ↩︎
- Mohamed Kazamel and Christopher J. Boes, “Charcot Marie Tooth Disease (CMT): Historical Perspectives and Evolution,” Journal of Neurology 262, no. 4 (2015): 801–5, https://doi.org/10.1007/s00415-014-7490-9. ↩︎
- Peter J. Dyck and Edward H. Lambert, “Lower Motor and Primary Sensory Neuron Diseases with Peroneal Muscular Atrophy. II. Neurologic, Genetic, and Electrophysiologic Findings in Various Neuronal Degenerations,” Archives of Neurology 18, no. 6 (1968): 619–25, https://doi.org/10.1001/archneur.1968.00470360041003; described in Kazamel and Boes 2015. ↩︎
- Harding and Thomas studied 228 people with hereditary motor and sensory neuropathy, 120 index cases and 108 affected relatives, and found they fell into two genetically distinct groups at a median motor conduction velocity of 38 m/s. A. E. Harding and P. K. Thomas, “The Clinical Features of Hereditary Motor and Sensory Neuropathy Types I and II,” Brain 103, no. 2 (1980): 259–80, https://doi.org/10.1093/brain/103.2.259. ↩︎
- James R. Lupski, Roberto Montes de Oca-Luna, Susan Slaugenhaupt, et al., “DNA Duplication Associated with Charcot-Marie-Tooth Disease Type 1A,” Cell 66, no. 2 (1991): 219–32, https://doi.org/10.1016/0092-8674(91)90613-4. ↩︎
- Magy et al. emailed a questionnaire to the more than 300 specialists on the mailing list of the 2016 International Charcot-Marie-Tooth and Related Neuropathy Consortium meeting. Of the 107 who answered, 65% said changes were needed and that the proposed names improved on the historical classification. Magy et al. 2018, https://doi.org/10.1212/WNL.0000000000005074. The proposal itself is Stéphane Mathis, Cyril Goizet, Meriem Tazir, et al., “Charcot-Marie-Tooth Diseases: An Update and Some New Proposals for the Classification,” Journal of Medical Genetics 52, no. 10 (2015): 681–90, https://doi.org/10.1136/jmedgenet-2015-103272. ↩︎
- CMT1H comes from a Mondo synonym. Mondo’s main label for this term (MONDO:0030689) looks garbled, so treat the name with care. ↩︎
- ARCMT2-NM is a Mondo synonym for Gamstorp-Wohlfart syndrome, the autosomal recessive neuromyotonia and axonal neuropathy that OMIM lists as NMAN (OMIM 137200). It is not one of the numbered CMT subtypes. ↩︎
- CMT2B2 comes only from the Mondo term ClinGen used for its curation. Monarch lists no gene-disease link for it, and ClinGen rates the MED25 link as Disputed. ↩︎
- ClinGen’s curation covers CMT2A2 and CMT2A2B (OMIM 609260 and 617087) and excludes HMSN6A. Mondo names the dominant form “type 2A2,” which converts to CMT2A2; it is more often written CMT2A2A, beside the recessive CMT2A2B. CMT5, an older name for MFN2 neuropathy with upper motor neuron signs, appears in published case reports, but here it comes only from a correlated association in the Monarch data. See https://doi.org/10.1111/jns.12145. ↩︎
- ClinGen splits NEFL by inheritance. This row, the dominant curation, includes CMT1F. CMT2E goes with the recessive curation, and CMTDIG is excluded from both. Published papers also use CMT2E for some dominant families. Until October 13, 2026, both rows listed all four names. ClinGen, NEFL curations, accessed October 13, 2026, https://search.clinicalgenome.org/kb/genes/HGNC:7739. ↩︎
- ClinGen splits NEFL by inheritance. This row, the recessive curation, includes CMT2E. CMT1F goes with the dominant curation, and CMTDIG is excluded from both. Published papers also use CMT2E for dominant families, and CMT2B5 (an Orphanet name) for recessive ones. Until October 13, 2026, both rows listed all four names. ClinGen, NEFL curations, accessed October 13, 2026, https://search.clinicalgenome.org/kb/genes/HGNC:7739. ↩︎
- ClinGen’s NTRK1 curation covers HSAN4. HSAN5 is usually tied to NGF, but a 2001 report described a boy homozygous for an NTRK1 variant whose nerve biopsy showed the HSAN5 pattern, so the two names overlap historically. Until October 13, 2026, this row listed HSAN5 as a subtype name. https://doi.org/10.1002/ana.103. ↩︎
- ClinGen rates PMP22 separately for two diseases. This row is CMT1A, caused by a duplication (an extra copy) of the gene; Roussy-Levy syndrome is included with it. HNPP has its own row. CMT1E and Dejerine-Sottas disease (CMT3, DSS) are excluded from both curations. Until October 13, 2026, both rows listed all of these names. ClinGen, PMP22 curations, accessed October 13, 2026, https://search.clinicalgenome.org/kb/genes/HGNC:9118. ↩︎
- ClinGen rates PMP22 separately for two diseases. This row is HNPP, usually caused by a deletion of the gene or by a variant that stops it working. CMT1A, which includes Roussy-Levy syndrome, has its own row. CMT1E and Dejerine-Sottas disease (CMT3, DSS) are excluded from both curations. Until October 13, 2026, both rows listed all of these names. ClinGen, PMP22 curations, accessed October 13, 2026, https://search.clinicalgenome.org/kb/genes/HGNC:9118. ↩︎
- Correction, October 13, 2026: this row also listed HSAN2D. That is the SCN9A subtype; it came from a correlated association in the Monarch data and has been removed. ClinGen’s SCN11A curation covers HSAN7. GeneReviews, Charcot-Marie-Tooth Hereditary Neuropathy Overview, table of hereditary sensory neuropathies, https://www.ncbi.nlm.nih.gov/books/NBK1358/table/cmt.T.hereditary_sensory_neuropathy_hsn/. ↩︎
- Mondo and OMIM name SORD neuropathy only as a distal hereditary motor neuropathy, HMNR8 (OMIM 618912). ClinGen curated SORD for Charcot-Marie-Tooth disease, but no lettered CMT name has been assigned. ↩︎
Sources
- Bonne, Gisèle, and François Rivier. “GeneTable of Neuromuscular Disorders.” 2026 edition, updated May 18, 2026. Accessed October 13, 2026. https://www.musclegenetable.fr/.
- Clinical Genome Resource (ClinGen). “Gene-Disease Validity Curations.” Accessed October 13, 2026. https://search.clinicalgenome.org/kb/gene-validity.
- Dyck, Peter J., and Edward H. Lambert. “Lower Motor and Primary Sensory Neuron Diseases with Peroneal Muscular Atrophy. II. Neurologic, Genetic, and Electrophysiologic Findings in Various Neuronal Degenerations.” Archives of Neurology 18, no. 6 (1968): 619–625. https://doi.org/10.1001/archneur.1968.00470360041003.
- Genomics England. “Hereditary Neuropathy or Pain Disorder (Panel 846).” Genomics England PanelApp. Accessed October 13, 2026. https://panelapp.genomicsengland.co.uk/panels/846/.
- Harding, A. E., and P. K. Thomas. “The Clinical Features of Hereditary Motor and Sensory Neuropathy Types I and II.” Brain 103, no. 2 (1980): 259–280. https://doi.org/10.1093/brain/103.2.259.
- Kazamel, Mohamed, and Christopher J. Boes. “Charcot Marie Tooth Disease (CMT): Historical Perspectives and Evolution.” Journal of Neurology 262, no. 4 (2015): 801–805. https://doi.org/10.1007/s00415-014-7490-9.
- Lupski, James R., Roberto Montes de Oca-Luna, Susan Slaugenhaupt, et al. “DNA Duplication Associated with Charcot-Marie-Tooth Disease Type 1A.” Cell 66, no. 2 (1991): 219–232. https://doi.org/10.1016/0092-8674(91)90613-4.
- Magy, Laurent, Stéphane Mathis, Gwendal Le Masson, et al. “Updating the Classification of Inherited Neuropathies: Results of an International Survey.” Neurology 90, no. 10 (2018): e870–e876. https://doi.org/10.1212/WNL.0000000000005074.
- Monarch Initiative. “Monarch Initiative API.” Accessed October 13, 2026. https://api-v3.monarchinitiative.org/.
- Pestronk, Alan. “Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth.” Neuromuscular Disease Center, Washington University in St. Louis. Last modified September 28, 2026. https://neuromuscular.wustl.edu/time/hmsn.html.
- Strande, Natasha T., Erin Rooney Riggs, Adam H. Buchanan, et al. “Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.” American Journal of Human Genetics 100, no. 6 (2017): 895–906. https://doi.org/10.1016/j.ajhg.2017.04.015.
- Vasilevsky, Nicole A., Sabrina Toro, Nicolas Matentzoglu, et al. “Mondo: Integrating Disease Terminology across Communities.” Genetics 232, no. 4 (2026): iyaf215. https://doi.org/10.1093/genetics/iyaf215.