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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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CMTDIB
Associated Gene - HGNC Approved Gene Symbol
DNM2
Chromosome
19p13.2
Type Classification
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Neuropathy
Intermediate
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 30, 2005
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023
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CMTDIC
Associated Gene - HGNC Approved Gene Symbol
YARS1 (Formerly YARS)
Chromosome
1p35.1
Type Classification
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Neuropathy
Intermediate
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 22, 2006
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023
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CMTDID
Associated Gene - HGNC Approved Gene Symbol
MPZ
Chromosome
1q23.3
Type Classification
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Neuropathy
Intermediate
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 1, 1999
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023
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CMTDIE
Associated Gene - HGNC Approved Gene Symbol
INF2
Chromosome
14q32.33
Type Classification
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Neuropathy
Intermediate
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 22, 2011
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023
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CMTDIF
Associated Gene - HGNC Approved Gene Symbol
GNB4
Chromosome
3q26.33
Type Classification
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Neuropathy
Intermediate
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 7, 2003
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023
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CMTDIG
Associated Gene - HGNC Approved Gene Symbol
NEFL
Chromosome
8p21.2
Type Classification
Dominant Intermediate CMT (DI-CMT or CMT-DI)
Neuropathy
Intermediate
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, 2004
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023
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CMTRIA
Associated Gene - HGNC Approved Gene Symbol
GDAP1
Chromosome
8q21.13
Type Classification
Recessive Intermediate CMT (RI-CMT or CMT-RI)
Neuropathy
Intermediate
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
March 1, 2003
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023
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CMTRIC
Associated Gene - HGNC Approved Gene Symbol
PLEKHG5
Chromosome
1p36.31
Type Classification
Recessive Intermediate CMT (RI-CMT or CMT-RI)
Neuropathy
Intermediate
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
June 17, 2013
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023
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CMTRID
Associated Gene - HGNC Approved Gene Symbol
COX6A1 (Formerly COX6AL)
Chromosome
12p24.31
Type Classification
Recessive Intermediate CMT (RI-CMT or CMT-RI)
Neuropathy
Intermediate
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
September 4, 2014
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023
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CMTRIE
Associated Gene - HGNC Approved Gene Symbol
KCTD11 (Formerly C17ORF36)
Chromosome
17p13.1
Type Classification
Recessive Intermediate CMT (RI-CMT or CMT-RI)
Neuropathy
Intermediate
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 4, 2025
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023
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CMTX1 (aka CMT1X, CMTX)
Associated Gene - HGNC Approved Gene Symbol
GJB1 (Formerly CONNEXIN32)
Chromosome
Xq13.1
Type Classification
CMTX (X-Linked CMT)
Neuropathy
Intermediate
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
December 24, 1993
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023
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CMTX2
Associated Gene - HGNC Approved Gene Symbol
Unknown but Mapped to Xp22.2
Chromosome
Xp22.2
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
March 15, 1992
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
January 13, 2023

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