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CMT-Associated Genes

&

Their Related Subtypes
Database

Select a Type from the Dropdown to Browse
the Related Subtype Discoveries

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or
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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

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CMT-Associated Genes

&

Their Related Subtypes
Database

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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.

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CMTX3
Associated Gene - HGNC Approved Gene Symbol
Genomic Rearrangement Between 8q24.3 and Xq27.1
Chromosome
Xq27.1
Type Classification
CMTX (X-Linked CMT)
Neuropathy
Demyelinating
Inheritance Pattern - How this Subtype is Inherited or Passed On
X-Linked Recessive
Zygosity of the Mutation That Causes this Subtype
Homozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
Date of Original Genetic Discovery
July 20, 2016
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025
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CMTX4 (aka Cowchock Syndrome)
Associated Gene - HGNC Approved Gene Symbol
AIFM1 (Formerly AIF, Formerly PDCD8)
Chromosome
Xq26.1
Type Classification
CMTX (X-Linked CMT)
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
X-Linked Recessive
Zygosity of the Mutation That Causes this Subtype
Homozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
Date of Original Genetic Discovery
December 7, 2012
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025
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CMTX5
Associated Gene - HGNC Approved Gene Symbol
PRPS1
Chromosome
Xq22.3
Type Classification
CMTX (X-Linked CMT)
Neuropathy
Intermediate
Inheritance Pattern - How this Subtype is Inherited or Passed On
X-Linked Recessive
Zygosity of the Mutation That Causes this Subtype
Homozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
Date of Original Genetic Discovery
September 1, 2007
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025
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CMTX6
Associated Gene - HGNC Approved Gene Symbol
PDK3
Chromosome
Xp22.1
Type Classification
CMTX (X-Linked CMT)
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
X-Linked Dominant
Zygosity of the Mutation That Causes this Subtype
Heterozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
Date of Original Genetic Discovery
April 1, 2013
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025
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GAN-1
Associated Gene - HGNC Approved Gene Symbol
GAN (Formerly GAN1)
Chromosome
16q23.2
Type Classification
Giant Axonal Neuropathy
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Recessive
Zygosity of the Mutation That Causes this Subtype
Homozygous or Compound Heterozygous
Date of Original Genetic Discovery
November 1, 2000
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025
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GAN-2
Associated Gene - HGNC Approved Gene Symbol
DCAF8 (Formerly WDR42A)
Chromosome
1q23.2
Type Classification
Giant Axonal Neuropathy
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Dominant
Zygosity of the Mutation That Causes this Subtype
Heterozygous
Date of Original Genetic Discovery
March 11, 2014
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025
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HMSN-4 (aka Refsum Disease)
Associated Gene - HGNC Approved Gene Symbol
PHYH (Formerly PAHX)
Chromosome
10p13
Type Classification
Hereditary Motor and Sensory Neuropathy
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Recessive
Zygosity of the Mutation That Causes this Subtype
Homozygous
Date of Original Genetic Discovery
October 1, 1997
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025
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HMSN-5
Associated Gene - HGNC Approved Gene Symbol
Unknown but Mapped to 4q34.3-q35.2
Chromosome
4q34.3-q35.2
Type Classification
Hereditary Motor and Sensory Neuropathy
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Dominant
Zygosity of the Mutation That Causes this Subtype
Heterozygous
Date of Original Genetic Discovery
April 7, 2008
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025
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HMSN-6A
Associated Gene - HGNC Approved Gene Symbol
MFN2
Chromosome
1p36.22
Type Classification
Hereditary Motor and Sensory Neuropathy
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Dominant
Zygosity of the Mutation That Causes this Subtype
Heterozygous
Date of Original Genetic Discovery
January 25, 2006
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025
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HMSN-6B
Associated Gene - HGNC Approved Gene Symbol
SLC25A46
Chromosome
5q22.1
Type Classification
Hereditary Motor and Sensory Neuropathy
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Recessive
Zygosity of the Mutation That Causes this Subtype
Homozygous or Compound Heterozygous
Date of Original Genetic Discovery
July 13, 2015
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025
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HMSN-6C
Associated Gene - HGNC Approved Gene Symbol
PDXK
Chromosome
21q22.3
Type Classification
Hereditary Motor and Sensory Neuropathy
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Recessive
Zygosity of the Mutation That Causes this Subtype
Homozygous
Date of Original Genetic Discovery
July 11, 2019
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025
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HMSN-Okinawa Type
Associated Gene - HGNC Approved Gene Symbol
TFG
Chromosome
3q12.2
Type Classification
Hereditary Motor and Sensory Neuropathy
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Dominant
Zygosity of the Mutation That Causes this Subtype
Heterozygous
Date of Original Genetic Discovery
August 10, 2012
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 14, 2025

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