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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
or
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Results

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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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Results

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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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CMT1A
Associated Gene - HGNC Approved Gene Symbol
PMP22
Chromosome
17p11.2
Type Classification
CMT Type 1
Neuropathy
Demyelinating
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 1, 1991
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024
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CMT1B
Associated Gene - HGNC Approved Gene Symbol
MPZ
Chromosome
1q23.3
Type Classification
CMT Type 1
Neuropathy
Demyelinating
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 1, 1993
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024
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CMT1C
Associated Gene - HGNC Approved Gene Symbol
LITAF
Chromosome
16p13.3
Type Classification
CMT Type 1
Neuropathy
Demyelinating
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 14, 2003
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024
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CMT1D
Associated Gene - HGNC Approved Gene Symbol
EGR2 (Formerly KROX20)
Chromosome
10q21.3
Type Classification
CMT Type 1
Neuropathy
Demyelinating
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 1, 1998
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024
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CMT1E
Associated Gene - HGNC Approved Gene Symbol
PMP22
Chromosome
17p12
Type Classification
CMT Type 1
Neuropathy
Demyelinating
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 1, 1999
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024
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CMT1F
Associated Gene - HGNC Approved Gene Symbol
NEFL
Chromosome
8p21.2
Type Classification
CMT Type 1
Neuropathy
Demyelinating
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 3, 2003
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024
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CMT1G
Associated Gene - HGNC Approved Gene Symbol
PMP2
Chromosome
8q21.13
Type Classification
CMT Type 1
Neuropathy
Demyelinating
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 6, 2016
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024
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CMT1H
Associated Gene - HGNC Approved Gene Symbol
FBLN5
Chromosome
14q32.12
Type Classification
CMT Type 1
Neuropathy
Demyelinating
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 5, 2020
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024
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CMT1I
Associated Gene - HGNC Approved Gene Symbol
POLR3B
Chromosome
12q23.3
Type Classification
CMT Type 1
Neuropathy
Demyelinating
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 7, 2021
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024
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CMT1J
Associated Gene - HGNC Approved Gene Symbol
ITPR3
Chromosome
6p21.31
Type Classification
CMT Type 1
Neuropathy
Demyelinating
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 19, 2020
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024
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HNPP
Associated Gene - HGNC Approved Gene Symbol
PMP22
Chromosome
17p12
Type Classification
CMT Type 1
Neuropathy
Demyelinating
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 15, 1993
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024
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CMT2A
Associated Gene - HGNC Approved Gene Symbol
MFN2
Chromosome
1p36.22
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 4, 2004
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
November 14, 2024

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