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.
TECPR2 (Formerly KIAA0329)
14q32.31
HSAN
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
April 13, 2021
Intermediate CMT?
December 7, 2024
CCT5 (Formerly CCTE, Formerly KIAA0098)
5p15.2
Hereditary Sensory Neuropathy
Axonal
Autosomal Recessive
Homozygous
February 1, 2006
Intermediate CMT?
December 7, 2024
SPTLC1
9p22.31
Hereditary Sensory Neuropathy
Axonal
Autosomal Dominant
Heterozygous
March 27, 2001
Intermediate CMT?
December 7, 2024
Unknown but Mapped to 3p22-p24
3p22-p24
Hereditary Sensory Neuropathy
Axonal
Autosomal Dominant
Heterozygous
September 1, 2003
Intermediate CMT?
December 7, 2024
SPTLC2
14q24.3
Hereditary Sensory Neuropathy
Axonal
Autosomal Dominant
Heterozygous
October 8, 2010
Intermediate CMT?
December 7, 2024
ATL1
14q22.1
Hereditary Sensory Neuropathy
Axonal
Autosomal Dominant
Heterozygous
January 7, 2011
Intermediate CMT?
December 7, 2024
DNMT1 (Formerly DNMT)
19p13.2
Hereditary Sensory Neuropathy
Axonal
Autosomal Dominant
Heterozygous
May 1, 2011
Intermediate CMT?
December 7, 2024
ATL3
11q13.1
Hereditary Sensory Neuropathy
Axonal
Autosomal Dominant
Heterozygous
January 22, 2014
Intermediate CMT?
December 7, 2024
WNK1
12p13.33
Hereditary Sensory Neuropathy
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
June 2, 2008
Intermediate CMT?
December 7, 2024
KIF1A
2q37.3
Hereditary Sensory Neuropathy
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
August 4, 2011
Intermediate CMT?
December 7, 2024
FLVCR1 (Formerly FLVCR)
1q32.3
Hereditary Sensory Neuropathy
Axonal
Autosomal Recessive
Homozygous or Compound Heterozygous
December 1, 2019
Intermediate CMT?
December 7, 2024
DYNC1H1 (Formerly DNCH1)
14q32.31
Lower Extremity Predominant Spinal Muscular Atrophy
Axonal
Autosomal Dominant
Heterozygous
March 28, 2012
Intermediate CMT?
December 7, 2024

