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.
SPTLC1
9q22.31
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Dominant
Heterozygous
March 27, 2001
Intermediate CMT?
November 15, 2022
Unknown but Mapped to 3p22-p24
3p22-p24
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Dominant
Heterozygous
September 1, 2003
Intermediate CMT?
November 15, 2022
SPTLC2
14q24.3
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Dominant
Heterozygous
October 8, 2010
Intermediate CMT?
November 15, 2022
WNK1
12p13.33
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Recessive
Homozygous
June 2, 2008
Intermediate CMT?
November 15, 2022
RETREG1 (Formerly FAM134B)
5p15.1
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Recessive
Homozygous
October 18, 2009
Intermediate CMT?
November 15, 2022
SCN9A
2q24.3
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
April 17, 2003
Intermediate CMT?
November 15, 2022
ELP1 (Formerly IKBKAP)
9q31.3
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
March 1, 2001
Intermediate CMT?
November 15, 2022
NTRK1
1q23.1
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
August 1, 1996
Intermediate CMT?
November 15, 2022
NGF (Formerly NGFB)
1p13.2
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Recessive
Homozygous
February 4, 2004
Intermediate CMT?
November 15, 2022
DST
6p12.1
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Recessive
Homozygous
January 9, 2012
Intermediate CMT?
November 15, 2022
SCN11A
3p22.2
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Dominant
Heterozygous
September 15, 2013
Intermediate CMT?
November 15, 2022
PRDM12
9q34.12
Hereditary Sensory and Autonomic Neuropathy
Axonal
Autosomal Recessive
Homozygous
May 25, 2015
Intermediate CMT?
November 15, 2022

