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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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dHMN2-SIGMAR1
Associated Gene - HGNC Approved Gene Symbol
SIGMAR1 (Formerly SRBP)
Chromosome
9p13.3
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
Heterozygous
Date of Original Genetic Discovery
June 16, 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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dSMA
Associated Gene - HGNC Approved Gene Symbol
VRK1
Chromosome
14q32.2
Type Classification
distal Spinal Muscular Atrophy
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 5, 2016
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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dSMA-4
Associated Gene - HGNC Approved Gene Symbol
PLEKHG5
Chromosome
1p36.31
Type Classification
distal Spinal Muscular Atrophy
Neuropathy
Intermediate
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 1, 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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dSMA-5
Associated Gene - HGNC Approved Gene Symbol
DNAJB2 (Formerly HSJ1)
Chromosome
2q35
Type Classification
distal Spinal Muscular Atrophy
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 20, 2012
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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dSMAX-2
Associated Gene - HGNC Approved Gene Symbol
UBA1 (Formerly UBE1, Formerly GXP1)
Chromosome
Xp11.3
Type Classification
distal Spinal Muscular Atrophy
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
X-Linked Recessive
Zygosity of the Mutation That Causes this Subtype
Homozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
Date of Original Genetic Discovery
January 10, 2008
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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dSMAX-3
Associated Gene - HGNC Approved Gene Symbol
ATP7A
Chromosome
Xq21.1
Type Classification
distal Spinal Muscular Atrophy
Neuropathy
Axonal
Inheritance Pattern - How this Subtype is Inherited or Passed On
X-Linked Recessive
Zygosity of the Mutation That Causes this Subtype
Homozygous (Chromosomal Female) or Hemizygous (Chromosomal Male)
Date of Original Genetic Discovery
March 10, 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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