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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-MYO9B
Associated Gene - HGNC Approved Gene Symbol
MYO9B (Formerly MYR5)
Chromosome
19p13.11
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 4, 2023
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024
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CMT-NAMPT
Associated Gene - HGNC Approved Gene Symbol
NAMPT (Formerly PBEF1)
Chromosome
7q22.3
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
September 26, 2025
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024
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CMT-NARS1
Associated Gene - HGNC Approved Gene Symbol
NARS1 (Formerly NARS)
Chromosome
18q21.31
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
March 8, 2024
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024
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CMT-NDUFS6
Associated Gene - HGNC Approved Gene Symbol
NDUFS6
Chromosome
5p15.33
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
June 1, 2024
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024
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CMT-NOTCH2NLC
Associated Gene - HGNC Approved Gene Symbol
NOTCH2NLC
Chromosome
1q21.2
Type Classification
Unclassified Subtype
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
October 21, 2021
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024
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CMT-POLG
Associated Gene - HGNC Approved Gene Symbol
POLG
Chromosome
15q26.1
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
Homozygous or Compound Heterozygous
Date of Original Genetic Discovery
March 6, 2019
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024
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CMT-PSAT1
Associated Gene - HGNC Approved Gene Symbol
PSAT1 (Formerly PSAT)
Chromosome
9q21.2
Type Classification
Unclassified Subtype
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
Homozygous or Compound Heterozygous
Date of Original Genetic Discovery
March 1, 2023
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024
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CMT-RFC1 (aka CANVAS)
Associated Gene - HGNC Approved Gene Symbol
RFC1 (Formerly RFC140)
Chromosome
4p14
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
March 29, 2019
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024
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CMT-SACS
Associated Gene - HGNC Approved Gene Symbol
SACS
Chromosome
13q12.12
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
February 1, 2018
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024
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CMT-SARS1
Associated Gene - HGNC Approved Gene Symbol
SARS1 (Formerly SARS)
Chromosome
1p13.3
Type Classification
Unclassified Subtype
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 14, 2023
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024
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CMT-SCO2
Associated Gene - HGNC Approved Gene Symbol
SCO2
Chromosome
22q13.33
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
January 16, 2018
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024
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CMT-SCYL1
Associated Gene - HGNC Approved Gene Symbol
SCYL1 (Formerly NTKL)
Chromosome
11q13.1
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
Homozygous
Date of Original Genetic Discovery
December 3, 2015
Click for Symptoms
Click for Current Clinical Study
What is
Intermediate CMT?
What is X-Linked CMT?
Updated
December 7, 2024

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