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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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SMA-LEP-2A
Associated Gene - HGNC Approved Gene Symbol
BICD2
Chromosome
9p22.31
Type Classification
Lower Extremity Predominant Spinal Muscular Atrophy
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 6, 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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SMA-LEP-2B
Associated Gene - HGNC Approved Gene Symbol
BICD2
Chromosome
9p22.31
Type Classification
Lower Extremity Predominant Spinal Muscular Atrophy
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 27, 2018
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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CMT-ABHD12 (aka PHARC)
Associated Gene - HGNC Approved Gene Symbol
ABHD12
Chromosome
20p11.21
Type Classification
Unclassified Subtype
Neuropathy
Demyelinating
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 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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CMT-ARHGEF10 (aka SNVC)
Associated Gene - HGNC Approved Gene Symbol
ARHGEF10
Chromosome
8p23.3
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
October 1, 2003
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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CMT-ATP6
Associated Gene - HGNC Approved Gene Symbol
ATP6
Chromosome
Mitochondria
Type Classification
Unclassified Subtype
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
Mitochondrial DNA
Zygosity of the Mutation That Causes this Subtype
Mitochondrial
Date of Original Genetic Discovery
September 3, 2019
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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CMT-C19ORF12 (aka SPG43)
Associated Gene - HGNC Approved Gene Symbol
C19ORF12
Chromosome
19q12
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
July 15, 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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CMT-CFAP276
Associated Gene - HGNC Approved Gene Symbol
CFAP276 (Formerly C1ORF194)
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
June 14, 2019
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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CMT-CHCHD10
Associated Gene - HGNC Approved Gene Symbol
CHCHD10
Chromosome
22q11.23
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 14, 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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CMT-CNTNAP1
Associated Gene - HGNC Approved Gene Symbol
CNTNAP1 (Formerly CASPR)
Chromosome
17q21.2
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 9, 2019
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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CMT-COA7 (aka SCAN3)
Associated Gene - HGNC Approved Gene Symbol
COA7
Chromosome
1p32.3
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
April 27, 2018
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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CMT-CRYAB
Associated Gene - HGNC Approved Gene Symbol
CRYAB (Formerly CRYA2)
Chromosome
11q23.1
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 29, 2023
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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CMT-CTDP1
Associated Gene - HGNC Approved Gene Symbol
CTDP1 (Formerly FCP1)
Chromosome
18q23
Type Classification
Unclassified Subtype
Neuropathy
Demyelinating
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 1, 2006
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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