CMT-Associated Genes
&
Their Related Subtypes
Database
Select a Type from the Dropdown to Browse
the Related Subtype Discoveries

Results
Results
Results
Search by Gene, by Subtype, or by Year of Discovery
ex: PMP22, SORD, CMTDIG, dHMN-2C, 1999
Gene Names/Symbols and Subtypes Should Be
Abbreviated as Shown in the Above Example

Results
Results
Results
RESULTS
RESULTS
RESULTS
CMT-Associated Genes
&
Their Related Subtypes
Database

Experts in CMT's CMT-Associated Genes database represents the most comprehensive publicly available searchable catalog of CMT-associated genes and their related subtypes. Every effort has been made to ensure the most up-to-date information on CMT-associated gene discovery and their related CMT subtypes is available here. Using the database search tools, you can easily search by type, by neuropathy, by inheritance, by chromosome, or by any combination of these options from dropdown menus. You can also search by typing in the gene symbol (i.e., MFN2 for MITOFUSIN 2), the subtype name, such as CMT2C, SORD-Deficiency, or dHMN-5C, for example (and not case sensitive), or by year of discovery.
Whether you're a patient, caregiver, physician/practicing clinician, or a CMT researcher who needs a CMT genetics reference, this database provides difficult to find CMT genetics data that is otherwise the most basic of CMT information. The search tools of this database display subtype-gene correlations. Searching for a CMT-associated gene returns the subtype(s) related to the gene. Searching for a CMT subtype returns the subtype and basic genetic information for that subtype, such as its associated gene, inheritance pattern, etc.
Click the button below to open the search tools. To close the search tools and come back here, click the Return to Start button.
MYO9B (Formerly MYR5)
19p13.11
Unclassified Subtype
Axonal
Autosomal Dominant
Heterozygous
January 4, 2023
Intermediate CMT?
December 7, 2024
NAMPT (Formerly PBEF1)
7q22.3
Unclassified Subtype
Axonal
Autosomal Dominant
Heterozygous
September 26, 2025
Intermediate CMT?
December 7, 2024
NARS1 (Formerly NARS)
18q21.31
Unclassified Subtype
Axonal
Autosomal Dominant
Heterozygous
March 8, 2024
Intermediate CMT?
December 7, 2024
NDUFS6
5p15.33
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous
June 1, 2024
Intermediate CMT?
December 7, 2024
NOTCH2NLC
1q21.2
Unclassified Subtype
Intermediate
Autosomal Dominant
Heterozygous
October 21, 2021
Intermediate CMT?
December 7, 2024
POLG
15q26.1
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
March 6, 2019
Intermediate CMT?
December 7, 2024
PSAT1 (Formerly PSAT)
9q21.2
Unclassified Subtype
Axonal
Autosomal Dominant or Autosomal Recessive
Homozygous or Compound Heterozygous
March 1, 2023
Intermediate CMT?
December 7, 2024
RFC1 (Formerly RFC140)
4p14
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous
March 29, 2019
Intermediate CMT?
December 7, 2024
SACS
13q12.12
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous
February 1, 2018
Intermediate CMT?
December 7, 2024
SARS1 (Formerly SARS)
1p13.3
Unclassified Subtype
Demyelinating
Autosomal Dominant
Heterozygous
September 14, 2023
Intermediate CMT?
December 7, 2024
SCO2
22q13.33
Unclassified Subtype
Axonal
Autosomal Recessive
Compound Heterozygous
January 16, 2018
Intermediate CMT?
December 7, 2024
SCYL1 (Formerly NTKL)
11q13.1
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous
December 3, 2015
Intermediate CMT?
December 7, 2024

