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.
GARS1 (Formerly GARS)
7p14.3
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
May 1, 2003
Intermediate CMT?
November 15, 2022
REEP1 (Formerly C2ORF23)
2p11.2
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
July 13, 2012
Intermediate CMT?
November 15, 2022
BSCL2
11q12.3
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
February 22, 2004
Intermediate CMT?
November 15, 2022
IGHMBP2
11q13.3
distal Hereditary Motor Neuropathy
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
August 13, 2001
Intermediate CMT?
November 15, 2022
SLC5A7
2q12.3
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
November 8, 2012
Intermediate CMT?
November 15, 2022
DCTN1
2p13.1
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
March 10, 2003
Intermediate CMT?
November 15, 2022
TRPV4
12q24.11
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
February 1, 2010
Intermediate CMT?
November 15, 2022
WARS1 (Formerly WARS)
14q32.2
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
May 1, 2017
Intermediate CMT?
November 15, 2022
AARS1 (Formerly AARS, Formerly ALARS)
16q22.1
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
May 9, 2012
Intermediate CMT?
November 15, 2022
MYH14
19q13.33
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
July 16, 2017
Intermediate CMT?
November 15, 2022
VWA1 (Formerly WARP)
1p36.33
distal Hereditary Motor Neuropathy
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
January 18, 2021
Intermediate CMT?
November 15, 2022
UBE3C (Formerly KIAA0010)
7q36.3
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
March 1, 2023
Intermediate CMT?
November 15, 2022

