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
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.
SEPT9
17q25.3
Unclassified Subtype
Demyelinating
Autosomal Dominant
Heterozygous
March 2, 2020
Intermediate CMT?
December 7, 2024
SETX
9q34.13
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
June 1, 2004
Intermediate CMT?
December 7, 2024
SGPL1
10q22.1
Unclassified Subtype
Axonal
Autosomal Recessive
Compound Heterozygous
February 7, 2017
Intermediate CMT?
December 7, 2024
SORD (Formerly SORD1)
15q21.1
Unclassified Subtype
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
May 4, 2020
Intermediate CMT?
December 7, 2024
SYT2
1q32.1
Unclassified Subtype
Axonal
Autosomal Dominant
Heterozygous
September 4, 2014
Intermediate CMT?
December 7, 2024
TUBB3
16q24.3
Unclassified Subtype
Axonal
Autosomal Dominant
Heterozygous
January 8, 2010
Intermediate CMT?
December 7, 2024
COQ7 (Formerly CLK1)
16p12.3
distal Hereditary Motor Neuropathy
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
October 1, 2023
Intermediate CMT?
December 7, 2024
Unknown but Mapped to 7q34-q36
7q34-q36
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
March 13, 2007
Intermediate CMT?
December 7, 2024
HSPB8 (Formerly HSP22)
12q24.23
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
May 2, 2004
Intermediate CMT?
December 7, 2024
HSPB1 (Formerly HSP27)
7q11.23
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
May 2, 2004
Intermediate CMT?
December 7, 2024
HSPB3 (Formerly HSPL27)
5q11.2
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
February 9, 2010
Intermediate CMT?
December 7, 2024
FBXO38 (Formerly FBX38)
5q32
distal Hereditary Motor Neuropathy
Axonal
Autosomal Dominant
Heterozygous
October 24, 2013
Intermediate CMT?
December 7, 2024

