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.
DNM2
19p13.2
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Intermediate
Autosomal Dominant
Heterozygous
January 30, 2005
Intermediate CMT?
January 13, 2023
YARS1 (Formerly YARS)
1p35.1
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Intermediate
Autosomal Dominant
Heterozygous
January 22, 2006
Intermediate CMT?
January 13, 2023
MPZ
1q23.3
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Intermediate
Autosomal Dominant
Heterozygous
August 1, 1999
Intermediate CMT?
January 13, 2023
INF2
14q32.33
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Intermediate
Autosomal Dominant
Heterozygous
December 22, 2011
Intermediate CMT?
January 13, 2023
GNB4
3q26.33
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Intermediate
Autosomal Dominant
Heterozygous
March 7, 2003
Intermediate CMT?
January 13, 2023
NEFL
8p21.2
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Intermediate
Autosomal Dominant
Heterozygous
February 1, 2004
Intermediate CMT?
January 13, 2023
GDAP1
8q21.13
Recessive Intermediate CMT (RI-CMT or CMT-RI)
Intermediate
Autosomal Recessive
Homozygous
March 1, 2003
Intermediate CMT?
January 13, 2023
PLEKHG5
1p36.31
Recessive Intermediate CMT (RI-CMT or CMT-RI)
Intermediate
Autosomal Recessive
Homozygous or Compound Heterozygous
June 17, 2013
Intermediate CMT?
January 13, 2023
COX6A1 (Formerly COX6AL)
12p24.31
Recessive Intermediate CMT (RI-CMT or CMT-RI)
Intermediate
Autosomal Recessive
Homozygous
September 4, 2014
Intermediate CMT?
January 13, 2023
KCTD11 (Formerly C17ORF36)
17p13.1
Recessive Intermediate CMT (RI-CMT or CMT-RI)
Intermediate
Autosomal Recessive
Homozygous or Compound Heterozygous
July 4, 2025
Intermediate CMT?
January 13, 2023
GJB1 (Formerly CONNEXIN32)
Xq13.1
CMTX (X-Linked CMT)
Intermediate
X-Linked Dominant
Heterozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
December 24, 1993
Intermediate CMT?
January 13, 2023
Unknown but Mapped to Xp22.2
Xp22.2
CMTX (X-Linked CMT)
Intermediate
X-Linked Recessive
Homozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
March 15, 1992
Intermediate CMT?
January 13, 2023

