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.
MPV17
2p23.3
CMT Type 2
Axonal
Autosomal Recessive
Homozygous
January 3, 2019
Intermediate CMT?
November 15, 2022
HSPB1 (Formerly HSP27)
7q11.23
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
May 2, 2004
Intermediate CMT?
November 15, 2022
CADM3
1q23.2
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
April 23, 2021
Intermediate CMT?
November 15, 2022
GBF1
10q24.32
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
September 15, 2020
Intermediate CMT?
November 15, 2022
JAG1 (Formerly JAGL1)
20p12.2
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
February 17, 2020
Intermediate CMT?
November 15, 2022
MPZ
1q23.3
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
May 1, 1998
Intermediate CMT?
November 15, 2022
SLC12A6
15q14
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
August 2, 2016
Intermediate CMT?
November 15, 2022
MPZ
1q23.3
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
December 1, 2000
Intermediate CMT?
November 15, 2022
BAG3
10q26.11
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
February 19, 2018
Intermediate CMT?
November 15, 2022
GDAP1
8q21.13
CMT Type 2
Axonal
Autosomal Dominant or Autosomal Recessive
Heterozygous, Homozygous, or Compound Heterozygous
August 13, 2008
Intermediate CMT?
November 15, 2022
HSPB8 (Formerly HSP22)
12q24.23
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
February 1, 2005
Intermediate CMT?
November 15, 2022
DNM2
19p13.2
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
July 16, 2007
Intermediate CMT?
November 15, 2022

