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
Results
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.
PMP22
17p11.2
CMT Type 1
Demyelinating
Autosomal Dominant
Heterozygous
January 1, 1991
Intermediate CMT?
November 14, 2024
MPZ
1q23.3
CMT Type 1
Demyelinating
Autosomal Dominant
Heterozygous
September 1, 1993
Intermediate CMT?
November 14, 2024
LITAF
16p13.3
CMT Type 1
Demyelinating
Autosomal Dominant
Heterozygous
January 14, 2003
Intermediate CMT?
November 14, 2024
EGR2 (Formerly KROX20)
10q21.3
CMT Type 1
Demyelinating
Autosomal Dominant
Heterozygous
April 1, 1998
Intermediate CMT?
November 14, 2024
PMP22
17p12
CMT Type 1
Demyelinating
Autosomal Dominant
Heterozygous
June 1, 1999
Intermediate CMT?
November 14, 2024
NEFL
8p21.2
CMT Type 1
Demyelinating
Autosomal Dominant
Heterozygous
March 3, 2003
Intermediate CMT?
November 14, 2024
PMP2
8q21.13
CMT Type 1
Demyelinating
Autosomal Dominant
Heterozygous
June 6, 2016
Intermediate CMT?
November 14, 2024
FBLN5
14q32.12
CMT Type 1
Demyelinating
Autosomal Dominant
Heterozygous
August 5, 2020
Intermediate CMT?
November 14, 2024
POLR3B
12q23.3
CMT Type 1
Demyelinating
Autosomal Dominant
Heterozygous
January 7, 2021
Intermediate CMT?
November 14, 2024
ITPR3
6p21.31
CMT Type 1
Demyelinating
Autosomal Dominant
Heterozygous
September 19, 2020
Intermediate CMT?
November 14, 2024
PMP22
17p12
CMT Type 1
Demyelinating
Autosomal Dominant
Heterozygous
January 15, 1993
Intermediate CMT?
November 14, 2024
MFN2
1p36.22
CMT Type 2
Axonal
Autosomal Dominant
Heterozygous
April 4, 2004
Intermediate CMT?
November 14, 2024

