Experts in CMT’s CMT genes and subtypes database brings together CMT-associated genes and the subtypes they cause into a single, searchable reference. Genetic discoveries in CMT are published across hundreds of individual research papers spanning decades, with no single registry responsible for cataloging or maintaining these findings for public use. This database aims to bridge that gap by consolidating CMT genetic information into a single location and presenting it in a structured, accessible format.
The database allows you to explore CMT genetics using multiple filters and search tools. Results can be narrowed by CMT type, neuropathy classification, inheritance pattern, or chromosome, or by using any combination of these filters together. You can also search directly by gene symbol, subtype name, or year of discovery. Sorting options enable results to be ordered consistently, supporting comparison and reference. Filter and sort selections generate a responsive URL, allowing searches to be bookmarked or shared.
Each database entry represents a CMT subtype and presents high-level genetic and clinical context. This includes the associated gene, inheritance pattern, neuropathy classification, and links to original discovery publications and supporting references. Where applicable, entries also reflect corrected or retracted gene associations to preserve historical accuracy.
Symptomatology and phenotype descriptions are included for each subtype when available and are linked directly to their sources. Each record also includes a link to the ClinVar variant browser, pre-filtered to display pathogenic and likely pathogenic variants reported for that subtype. A link to relevant GeneReviews® publications and to ClinGen gene curations is included when available for the subtype.
Although CMTX3 is caused by an 8q24.3 → Xq27.1 translocation variant that involves 78kb of genetic material rather than a monogenic variant, the CMTX3-related translocation is counted here as a single gene.
Every effort is made to ensure accuracy and completeness. If you notice an error or believe a record is missing, please contact us at info@expertsincmt.org.
This database is intended as an educational and reference resource. It does not provide medical advice, variant interpretation, diagnostic guidance, or treatment recommendations. Genetic testing, diagnosis, and healthcare decisions should always be made in consultation with a qualified healthcare professional.
Inclusion Criteria
Records included in this database are drawn from peer-reviewed scientific publications that establish or support a genetic cause of CMT or a named CMT subtype and are backed by sufficient genetic and clinical evidence. To be included, a publication must either propose a subtype designation, conclude that a gene causes CMT using accepted nomenclature, or serve as a cited reference supporting a subtype designation in authoritative resources such as Charcot-Marie-Tooth Association, the Inherited Neuropathies Consortium, Online Mendelian Inheritance in Man (OMIM), ClinGen, or The Genesis Project Foundation.
CMT gene–disease associations that remain preliminary, lack sufficient supporting data, or require further validation are maintained separately as candidate associations and are not included in the primary database until additional evidence supports their inclusion. If you can’t find your gene in the database, review the candidate gene associations.
CMT2E
Alias: CMT1F/2E
Gene: NEFL
Discovered: 2000
Inheritance: Autosomal Dominant
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CMT2EE
CMT2F
CMT2FF
CMT2GG
Alias: Dominant Intermediate CMT A (CMTDIA)
Gene: GBF1
Discovered: 2020
Inheritance: Autosomal Dominant
Learn More
CMT2HH
CMT2JJ
CMT2K
Gene: GDAP1
Discovered: 2008
Inheritance: Autosomal Dominant or Autosomal Recessive
Learn More
CMT2L
Candidate Gene Associations
Candidate gene associations are tracked separately from the primary CMT Genes and Subtypes Database. These genes and/or subtype names have been reported in the scientific literature, appear in clinical or diagnostic contexts, or have been referenced in academic settings, but do not currently meet the inclusion criteria required for placement in the main database. Experts in CMT does not attempt to resolve, validate, or adjudicate these associations. The candidate genes listed here are provided for reference and may be considered for inclusion if and when sufficient genetic and clinical evidence becomes available.
- ADCY6: Candidate since August 2021
- AHNAK2: Candidate since October 2025
- ARPC3: Candidate since February 2025
- CLTCL: Candidate since August 2021
- COA3: Candidate since June 2024
- COL6A5: Candidate since August 2021
- FAM169A: Candidate since June 2024
- FXN: Candidate since June 2024
- GLE1: Candidate since August 2021
- KARS1 (CMTRIB): Downgraded to candidate gene association August 2024 based on key opinion leader guidance
- MARS1 (CMT2U): Downgraded to candidate gene association August 2024 based on key opinion leader guidance
- mt-tRNAval: Candidate since February 2024
- PIEZO2: Candidate since August 2021
- PIGG: Candidate since May 2025
- PRNP: Candidate since August 2021
- RNF170: Candidate since August 2021
- RTN2: Candidate since June 2024
- SAPST: Candidate since June 2024
- SPTBN4: Candidate since October 2025
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