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.
MFN2
1p36.22
CMT Type 2
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
June 29, 2011
Intermediate CMT?
November 15, 2022
RAB7A (Formerly RAB7)
3q21.3
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
March 1, 2003
Intermediate CMT?
November 15, 2022
LMNA
1q22
CMT Type 2
Axonal
Autosomal Recessive
Homozygous
March 1, 2002
Intermediate CMT?
November 15, 2022
PNKP
19q13.33
CMT Type 2
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
July 24, 2018
Intermediate CMT?
November 15, 2022
GDAP1
8q21.13
CMT Type 2
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
March 8, 2007
Intermediate CMT?
November 15, 2022
MFN2
1p36.22
CMT Type 2
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
May 5, 2008
Intermediate CMT?
November 15, 2022
NEFL
8p21.2
CMT Type 2
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
April 13, 2009
Intermediate CMT?
November 15, 2022
TRPV4
12q24.11
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
February 1, 2010
Intermediate CMT?
November 15, 2022
NEFH
22q12.2
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
April 7, 2016
Intermediate CMT?
November 15, 2022
GARS1 (Formerly GARS)
7p14.3
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
May 1, 2003
Intermediate CMT?
November 15, 2022
ATP1A1
1p13.1
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
March 1, 2018
Intermediate CMT?
November 15, 2022
NEFL
8p21.2
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
July 1, 2000
Intermediate CMT?
November 15, 2022

