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.
DARS2 (Formerly FLJ10514)
1q25.1
Unclassified Subtype
Axonal
Autosomal Recessive
Compound Heterozygous
August 15, 2025
Intermediate CMT?
October 17, 2025
DGAT2
11q13.5
Unclassified Subtype
Axonal
Autosomal Dominant
Heterozygous
January 20, 2016
Intermediate CMT?
October 17, 2025
DHX9 (Formerly DDX9)
1q25.3
Unclassified Subtype
Axonal
Autosomal Recessive
Heterozygous
July 18, 2023
Intermediate CMT?
October 17, 2025
DRP2
X22.1
Unclassified Subtype
Intermediate
X-Linked Dominant
Heterozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
July 7, 2015
Intermediate CMT?
October 17, 2025
DST
6p12.1
Unclassified Subtype
Axonal
Autosomal Recessive
Compound Heterozygous
July 31, 2020
Intermediate CMT?
October 17, 2025
HADHB
2p23.3
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
December 5, 2013
Intermediate CMT?
October 17, 2025
HINT1 (Formerly HINT, Formerly PRKCNH1)
5q23.3
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
September 9, 2012
Intermediate CMT?
October 17, 2025
INSC
11p15.2
Unclassified Subtype
Axonal
Autosomal Dominant
Heterozygous
April 8, 2024
Intermediate CMT?
October 17, 2025
KIF5A
12q13.3
Unclassified Subtype
Axonal
Autosomal Dominant
Heterozygous
October 10, 2018
Intermediate CMT?
October 17, 2025
LRP12 (Formerly ST7)
8q22.3
Unclassified Subtype
Axonal
Autosomal Dominant
Heterozygous
January 16, 2025
Intermediate CMT?
October 17, 2025
MCM3AP
21q22.3
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
June 19, 2017
Intermediate CMT?
October 17, 2025
MTRFR (Formerly C12ORF65)
12q24.31
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous
April 10, 2014
Intermediate CMT?
October 17, 2025

