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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-1A
Associated Gene - HGNC Approved Gene Symbol
SPTLC1
Chromosome
9q22.31
Type Classification
Hereditary Sensory and Autonomic 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
November 15, 2022
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HSAN-1B
Associated Gene - HGNC Approved Gene Symbol
Unknown but Mapped to 3p22-p24
Chromosome
3p22-p24
Type Classification
Hereditary Sensory and Autonomic 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
November 15, 2022
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HSAN-1C
Associated Gene - HGNC Approved Gene Symbol
SPTLC2
Chromosome
14q24.3
Type Classification
Hereditary Sensory and Autonomic 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
November 15, 2022
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HSAN-2A
Associated Gene - HGNC Approved Gene Symbol
WNK1
Chromosome
12p13.33
Type Classification
Hereditary Sensory and Autonomic 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
June 2, 2008
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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HSAN-2B
Associated Gene - HGNC Approved Gene Symbol
RETREG1 (Formerly FAM134B)
Chromosome
5p15.1
Type Classification
Hereditary Sensory and Autonomic 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
October 18, 2009
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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HSAN-2D
Associated Gene - HGNC Approved Gene Symbol
SCN9A
Chromosome
2q24.3
Type Classification
Hereditary Sensory and Autonomic 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
April 17, 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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HSAN-3
Associated Gene - HGNC Approved Gene Symbol
ELP1 (Formerly IKBKAP)
Chromosome
9q31.3
Type Classification
Hereditary Sensory and Autonomic 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
March 1, 2001
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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HSAN-4 (aka CIPA)
Associated Gene - HGNC Approved Gene Symbol
NTRK1
Chromosome
1q23.1
Type Classification
Hereditary Sensory and Autonomic 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 1, 1996
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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HSAN-5
Associated Gene - HGNC Approved Gene Symbol
NGF (Formerly NGFB)
Chromosome
1p13.2
Type Classification
Hereditary Sensory and Autonomic 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 4, 2004
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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HSAN-6
Associated Gene - HGNC Approved Gene Symbol
DST
Chromosome
6p12.1
Type Classification
Hereditary Sensory and Autonomic 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
January 9, 2012
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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HSAN-7
Associated Gene - HGNC Approved Gene Symbol
SCN11A
Chromosome
3p22.2
Type Classification
Hereditary Sensory and Autonomic 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 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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HSAN-8
Associated Gene - HGNC Approved Gene Symbol
PRDM12
Chromosome
9q34.12
Type Classification
Hereditary Sensory and Autonomic 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
May 25, 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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