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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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CMT2EE
Associated Gene - HGNC Approved Gene Symbol
MPV17
Chromosome
2p23.3
Type Classification
CMT Type 2
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
January 3, 2019
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022
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CMT2F
Associated Gene - HGNC Approved Gene Symbol
HSPB1 (Formerly HSP27)
Chromosome
7q11.23
Type Classification
CMT Type 2
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
May 2, 2004
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022
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CMT2FF
Associated Gene - HGNC Approved Gene Symbol
CADM3
Chromosome
1q23.2
Type Classification
CMT Type 2
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 23, 2021
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022
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CMT2GG (Formerly CMTDIA)
Associated Gene - HGNC Approved Gene Symbol
GBF1
Chromosome
10q24.32
Type Classification
CMT Type 2
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
September 15, 2020
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022
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CMT2HH
Associated Gene - HGNC Approved Gene Symbol
JAG1 (Formerly JAGL1)
Chromosome
20p12.2
Type Classification
CMT Type 2
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
February 17, 2020
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022
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CMT2I
Associated Gene - HGNC Approved Gene Symbol
MPZ
Chromosome
1q23.3
Type Classification
CMT Type 2
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
May 1, 1998
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022
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CMT2II
Associated Gene - HGNC Approved Gene Symbol
SLC12A6
Chromosome
15q14
Type Classification
CMT Type 2
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 2, 2016
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022
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CMT2J
Associated Gene - HGNC Approved Gene Symbol
MPZ
Chromosome
1q23.3
Type Classification
CMT Type 2
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
December 1, 2000
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022
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CMT2JJ
Associated Gene - HGNC Approved Gene Symbol
BAG3
Chromosome
10q26.11
Type Classification
CMT Type 2
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
February 19, 2018
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022
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CMT2K
Associated Gene - HGNC Approved Gene Symbol
GDAP1
Chromosome
8q21.13
Type Classification
CMT Type 2
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Dominant or Autosomal Recessive
Zygosity of the Mutation That Causes this Subtype
Heterozygous, Homozygous, or Compound Heterozygous
Date of Original Genetic Discovery
August 13, 2008
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022
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CMT2L
Associated Gene - HGNC Approved Gene Symbol
HSPB8 (Formerly HSP22)
Chromosome
12q24.23
Type Classification
CMT Type 2
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
February 1, 2005
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022
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CMT2M
Associated Gene - HGNC Approved Gene Symbol
DNM2
Chromosome
19p13.2
Type Classification
CMT Type 2
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
July 16, 2007
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 15, 2022

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