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.
AARS1 (Formerly AARS, Formerly ALARS)
16q22.1
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
January 8, 2010
Intermediate CMT?
November 15, 2022
DYNC1H1 (Formerly DNCH1)
14q32.31
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
August 4, 2011
Intermediate CMT?
November 15, 2022
LRSAM1 (Formerly RIFLE)
9q33.3 - 9q34.11
CMT Type 2
Axonal
Autosomal Dominant or Autosomal Recessive
Heterozygous or Homozygous
August 26, 2010
Intermediate CMT?
November 15, 2022
DHTKD1 (Formerly KIAA1630)
10p14
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
December 7, 2012
Intermediate CMT?
November 15, 2022
TRIM2
4q31.3
CMT Type 2
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
August 1, 2013
Intermediate CMT?
November 15, 2022
IGHMBP2
11q13.3
CMT Type 2
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
November 6, 2014
Intermediate CMT?
November 15, 2022
MME
3q25.2
CMT Type 2
Axonal
Autosomal Dominant or Autosomal Recessive
Heterozygous, Homozygous, or Compound Heterozygous
April 8, 2016
Intermediate CMT?
November 15, 2022
NAGLU
17q21.2
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
March 27, 2015
Intermediate CMT?
November 15, 2022
HARS1 (Formerly HARS)
5q31.3
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
June 13, 2015
Intermediate CMT?
November 15, 2022
SPG11
15q21.1
CMT Type 2
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
November 10, 2015
Intermediate CMT?
November 15, 2022
VCP
9p13.3
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
August 14, 2014
Intermediate CMT?
November 15, 2022
MORC2
22q12.2
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
March 10, 2016
Intermediate CMT?
November 15, 2022

