Clinical Domain Working Groups

Charcot-Marie-Tooth disease (CMT) is a spectrum of inherited nerve disorders that cause peripheral neuropathy. CMT is regarded as synonymous with “hereditary motor sensory neuropathy” (HMSN). CMT is the most common inherited neurological disorder, affecting approximately 1 in 2500 individuals. Currently, more than 90 genes are reported to cause CMT and are included on clinical genetic testing panels within the Genetic Testing Registry. The goal of the CMT GCEP is to use the ClinGen gene-disease clinical validity framework to evaluate the strength of evidence for these gene-disease associations. These evaluations will enable the development of refined guidelines for clinical diagnosis and management as well as optimize decision making for patients and families.