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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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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-SEPT9
Associated Gene - HGNC Approved Gene Symbol
SEPT9
Chromosome
17q25.3
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
March 2, 2020
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-SETX
Associated Gene - HGNC Approved Gene Symbol
SETX
Chromosome
9q34.13
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 1, 2004
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-SGPL1
Associated Gene - HGNC Approved Gene Symbol
SGPL1
Chromosome
10q22.1
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
February 7, 2017
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-SORD (aka SORD Deficiency)
Associated Gene - HGNC Approved Gene Symbol
SORD (Formerly SORD1)
Chromosome
15q21.1
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
May 4, 2020
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-SYT2
Associated Gene - HGNC Approved Gene Symbol
SYT2
Chromosome
1q32.1
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 4, 2014
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-TUBB3
Associated Gene - HGNC Approved Gene Symbol
TUBB3
Chromosome
16q24.3
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 8, 2010
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-COQ7 (aka HMNR9 - Hereditary Motor Neuronopathy, Recessive 9)
Associated Gene - HGNC Approved Gene Symbol
COQ7 (Formerly CLK1)
Chromosome
16p12.3
Type Classification
distal Hereditary Motor Neuropathy
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
October 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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dHMN-1
Associated Gene - HGNC Approved Gene Symbol
Unknown but Mapped to 7q34-q36
Chromosome
7q34-q36
Type Classification
distal Hereditary Motor Neuropathy
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 13, 2007
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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dHMN-2A
Associated Gene - HGNC Approved Gene Symbol
HSPB8 (Formerly HSP22)
Chromosome
12q24.23
Type Classification
distal Hereditary Motor Neuropathy
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
May 2, 2004
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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dHMN-2B
Associated Gene - HGNC Approved Gene Symbol
HSPB1 (Formerly HSP27)
Chromosome
7q11.23
Type Classification
distal Hereditary Motor Neuropathy
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
May 2, 2004
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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dHMN-2C
Associated Gene - HGNC Approved Gene Symbol
HSPB3 (Formerly HSPL27)
Chromosome
5q11.2
Type Classification
distal Hereditary Motor Neuropathy
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
February 9, 2010
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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dHMN-2D
Associated Gene - HGNC Approved Gene Symbol
FBXO38 (Formerly FBX38)
Chromosome
5q32
Type Classification
distal Hereditary Motor Neuropathy
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 24, 2013
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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