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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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HSAN-9
Associated Gene - HGNC Approved Gene Symbol
TECPR2 (Formerly KIAA0329)
Chromosome
14q32.31
Type Classification
HSAN
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 13, 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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HSN w/SPG
Associated Gene - HGNC Approved Gene Symbol
CCT5 (Formerly CCTE, Formerly KIAA0098)
Chromosome
5p15.2
Type Classification
Hereditary Sensory Neuropathy
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, 2006
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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HSN-1A
Associated Gene - HGNC Approved Gene Symbol
SPTLC1
Chromosome
9p22.31
Type Classification
Hereditary Sensory 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 27, 2001
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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HSN-1B
Associated Gene - HGNC Approved Gene Symbol
Unknown but Mapped to 3p22-p24
Chromosome
3p22-p24
Type Classification
Hereditary Sensory 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
September 1, 2003
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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HSN-1C
Associated Gene - HGNC Approved Gene Symbol
SPTLC2
Chromosome
14q24.3
Type Classification
Hereditary Sensory 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 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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HSN-1D
Associated Gene - HGNC Approved Gene Symbol
ATL1
Chromosome
14q22.1
Type Classification
Hereditary Sensory 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
January 7, 2011
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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HSN-1E
Associated Gene - HGNC Approved Gene Symbol
DNMT1 (Formerly DNMT)
Chromosome
19p13.2
Type Classification
Hereditary Sensory 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 1, 2011
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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HSN-1F
Associated Gene - HGNC Approved Gene Symbol
ATL3
Chromosome
11q13.1
Type Classification
Hereditary Sensory 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
January 22, 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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HSN-2A
Associated Gene - HGNC Approved Gene Symbol
WNK1
Chromosome
12p13.33
Type Classification
Hereditary Sensory 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
June 2, 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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HSN-2C
Associated Gene - HGNC Approved Gene Symbol
KIF1A
Chromosome
2q37.3
Type Classification
Hereditary Sensory 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
August 4, 2011
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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HSN-FLVCR1
Associated Gene - HGNC Approved Gene Symbol
FLVCR1 (Formerly FLVCR)
Chromosome
1q32.3
Type Classification
Hereditary Sensory 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
December 1, 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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SMA-LEP-1
Associated Gene - HGNC Approved Gene Symbol
DYNC1H1 (Formerly DNCH1)
Chromosome
14q32.31
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
March 28, 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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