CMT-Associated Genes
&
Their Related Subtypes
Database
Select a Type from the Dropdown to Browse
the Related Subtype Discoveries

Results
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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
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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.
Genomic Rearrangement Between 8q24.3 and Xq27.1
Xq27.1
CMTX (X-Linked CMT)
Demyelinating
X-Linked Recessive
Homozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
July 20, 2016
Intermediate CMT?
October 14, 2025
AIFM1 (Formerly AIF, Formerly PDCD8)
Xq26.1
CMTX (X-Linked CMT)
Axonal
X-Linked Recessive
Homozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
December 7, 2012
Intermediate CMT?
October 14, 2025
PRPS1
Xq22.3
CMTX (X-Linked CMT)
Intermediate
X-Linked Recessive
Homozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
September 1, 2007
Intermediate CMT?
October 14, 2025
PDK3
Xp22.1
CMTX (X-Linked CMT)
Axonal
X-Linked Dominant
Heterozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
April 1, 2013
Intermediate CMT?
October 14, 2025
GAN (Formerly GAN1)
16q23.2
Giant Axonal Neuropathy
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
November 1, 2000
Intermediate CMT?
October 14, 2025
DCAF8 (Formerly WDR42A)
1q23.2
Giant Axonal Neuropathy
Axonal
Autosomal Dominant
Heterozygous
March 11, 2014
Intermediate CMT?
October 14, 2025
PHYH (Formerly PAHX)
10p13
Hereditary Motor and Sensory Neuropathy
Axonal
Autosomal Recessive
Homozygous
October 1, 1997
Intermediate CMT?
October 14, 2025
Unknown but Mapped to 4q34.3-q35.2
4q34.3-q35.2
Hereditary Motor and Sensory Neuropathy
Axonal
Autosomal Dominant
Heterozygous
April 7, 2008
Intermediate CMT?
October 14, 2025
MFN2
1p36.22
Hereditary Motor and Sensory Neuropathy
Axonal
Autosomal Dominant
Heterozygous
January 25, 2006
Intermediate CMT?
October 14, 2025
SLC25A46
5q22.1
Hereditary Motor and Sensory Neuropathy
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
July 13, 2015
Intermediate CMT?
October 14, 2025
PDXK
21q22.3
Hereditary Motor and Sensory Neuropathy
Axonal
Autosomal Recessive
Homozygous
July 11, 2019
Intermediate CMT?
October 14, 2025
TFG
3q12.2
Hereditary Motor and Sensory Neuropathy
Axonal
Autosomal Dominant
Heterozygous
August 10, 2012
Intermediate CMT?
October 14, 2025

