CMT-Associated Genes
&
Their Related Subtypes
Database
Select a Type from the Dropdown to Browse
the Related Subtype Discoveries

Results
Results
Results
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

Results
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Results
RESULTS
RESULTS
RESULTS
CMT-Associated Genes
&
Their Related Subtypes
Database

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.
BICD2
9p22.31
Lower Extremity Predominant Spinal Muscular Atrophy
Axonal
Autosomal Dominant
Heterozygous
June 6, 2013
Intermediate CMT?
November 15, 2022
BICD2
9p22.31
Lower Extremity Predominant Spinal Muscular Atrophy
Axonal
Autosomal Dominant
Heterozygous
June 27, 2018
Intermediate CMT?
November 15, 2022
ABHD12
20p11.21
Unclassified Subtype
Demyelinating
Autosomal Recessive
Homozygous or Compound Heterozygous
August 26, 2010
Intermediate CMT?
November 15, 2022
ARHGEF10
8p23.3
Unclassified Subtype
Demyelinating
Autosomal Dominant
Heterozygous
October 1, 2003
Intermediate CMT?
November 15, 2022
ATP6
Mitochondria
Unclassified Subtype
Axonal
Mitochondrial DNA
Mitochondrial
September 3, 2019
Intermediate CMT?
November 15, 2022
C19ORF12
19q12
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous
July 15, 2013
Intermediate CMT?
November 15, 2022
CFAP276 (Formerly C1ORF194)
1p13.3
Unclassified Subtype
Demyelinating
Autosomal Dominant
Heterozygous
June 14, 2019
Intermediate CMT?
November 15, 2022
CHCHD10
22q11.23
Unclassified Subtype
Axonal
Autosomal Dominant
Heterozygous
April 14, 2015
Intermediate CMT?
November 15, 2022
CNTNAP1 (Formerly CASPR)
17q21.2
Unclassified Subtype
Axonal
Autosomal Recessive
Compound Heterozygous
August 9, 2019
Intermediate CMT?
November 15, 2022
COA7
1p32.3
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
April 27, 2018
Intermediate CMT?
November 15, 2022
CRYAB (Formerly CRYA2)
11q23.1
Unclassified Subtype
Axonal
Autosomal Dominant
Heterozygous
September 29, 2023
Intermediate CMT?
November 15, 2022
CTDP1 (Formerly FCP1)
18q23
Unclassified Subtype
Demyelinating
Autosomal Recessive
Homozygous or Compound Heterozygous
March 1, 2006
Intermediate CMT?
November 15, 2022

