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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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CMT-DARS2
Associated Gene - HGNC Approved Gene Symbol
DARS2 (Formerly FLJ10514)
Chromosome
1q25.1
Type Classification
Unclassified Subtype
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Recessive
Zygosity of the Mutation That Causes this Subtype
Compound Heterozygous
Date of Original Genetic Discovery
August 15, 2025
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025
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CMT-DGAT2
Associated Gene - HGNC Approved Gene Symbol
DGAT2
Chromosome
11q13.5
Type Classification
Unclassified Subtype
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 20, 2016
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025
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CMT-DHX9
Associated Gene - HGNC Approved Gene Symbol
DHX9 (Formerly DDX9)
Chromosome
1q25.3
Type Classification
Unclassified Subtype
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Recessive
Zygosity of the Mutation That Causes this Subtype
Heterozygous
Date of Original Genetic Discovery
July 18, 2023
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025
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CMT-DRP2
Associated Gene - HGNC Approved Gene Symbol
DRP2
Chromosome
X22.1
Type Classification
Unclassified Subtype
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
July 7, 2015
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025
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CMT-DST
Associated Gene - HGNC Approved Gene Symbol
DST
Chromosome
6p12.1
Type Classification
Unclassified Subtype
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Autosomal Recessive
Zygosity of the Mutation That Causes this Subtype
Compound Heterozygous
Date of Original Genetic Discovery
July 31, 2020
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025
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CMT-HADHB
Associated Gene - HGNC Approved Gene Symbol
HADHB
Chromosome
2p23.3
Type Classification
Unclassified Subtype
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
December 5, 2013
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025
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CMT-HINT1 (aka Neuromyotonia and Axonal Neuropathy)
Associated Gene - HGNC Approved Gene Symbol
HINT1 (Formerly HINT, Formerly PRKCNH1)
Chromosome
5q23.3
Type Classification
Unclassified Subtype
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
September 9, 2012
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025
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CMT-INSC
Associated Gene - HGNC Approved Gene Symbol
INSC
Chromosome
11p15.2
Type Classification
Unclassified Subtype
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 8, 2024
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025
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CMT-KIF5A
Associated Gene - HGNC Approved Gene Symbol
KIF5A
Chromosome
12q13.3
Type Classification
Unclassified Subtype
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
October 10, 2018
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025
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CMT-LRP12
Associated Gene - HGNC Approved Gene Symbol
LRP12 (Formerly ST7)
Chromosome
8q22.3
Type Classification
Unclassified Subtype
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 16, 2025
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025
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CMT-MCM3AP
Associated Gene - HGNC Approved Gene Symbol
MCM3AP
Chromosome
21q22.3
Type Classification
Unclassified Subtype
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
June 19, 2017
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025
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CMT-MTRFR
Associated Gene - HGNC Approved Gene Symbol
MTRFR (Formerly C12ORF65)
Chromosome
12q24.31
Type Classification
Unclassified Subtype
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
April 10, 2014
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
October 17, 2025

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