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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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CMT2N
Associated Gene - HGNC Approved Gene Symbol
AARS1 (Formerly AARS, Formerly ALARS)
Chromosome
16q22.1
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
January 8, 2010
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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CMT2O
Associated Gene - HGNC Approved Gene Symbol
DYNC1H1 (Formerly DNCH1)
Chromosome
14q32.31
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 4, 2011
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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CMT2P
Associated Gene - HGNC Approved Gene Symbol
LRSAM1 (Formerly RIFLE)
Chromosome
9q33.3 - 9q34.11
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 or Homozygous
Date of Original Genetic Discovery
August 26, 2010
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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CMT2Q
Associated Gene - HGNC Approved Gene Symbol
DHTKD1 (Formerly KIAA1630)
Chromosome
10p14
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 7, 2012
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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CMT2R
Associated Gene - HGNC Approved Gene Symbol
TRIM2
Chromosome
4q31.3
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 or Compound Heterozygous
Date of Original Genetic Discovery
August 1, 2013
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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CMT2S
Associated Gene - HGNC Approved Gene Symbol
IGHMBP2
Chromosome
11q13.3
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 or Compound Heterozygous
Date of Original Genetic Discovery
November 6, 2014
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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CMT2T
Associated Gene - HGNC Approved Gene Symbol
MME
Chromosome
3q25.2
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
April 8, 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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CMT2V
Associated Gene - HGNC Approved Gene Symbol
NAGLU
Chromosome
17q21.2
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
March 27, 2015
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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CMT2W
Associated Gene - HGNC Approved Gene Symbol
HARS1 (Formerly HARS)
Chromosome
5q31.3
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
June 13, 2015
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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CMT2X
Associated Gene - HGNC Approved Gene Symbol
SPG11
Chromosome
15q21.1
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 or Compound Heterozygous
Date of Original Genetic Discovery
November 10, 2015
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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CMT2Y
Associated Gene - HGNC Approved Gene Symbol
VCP
Chromosome
9p13.3
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
August 14, 2014
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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CMT2Z
Associated Gene - HGNC Approved Gene Symbol
MORC2
Chromosome
22q12.2
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
March 10, 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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