Clinical Domain Working Groups

Neuromuscular CDWG

Expert Panels Membership

The Neuromuscular Disorders Clinical Domain Working Group (NM CDWG) aims to create a comprehensive, standardized knowledge base of genes and variants relevant for neuromuscular genetic and genomic medicine. 

Goals:

  1. Identify neuromuscular disease experts and clinical labs willing to disseminate knowledge for gene and variant curation efforts.
  2. Identify and recruit domain experts willing and able to participate in projects including, but not limited to, gene and variant curation.
  3. Curate and adjudicate genes associated with neuromuscular disorders using the ClinGen Gene Curation Working Group gene:disease classification framework.
  4. Specify ACMG/AMP guidelines for a given set of genes, and curate variants within those genes to determine their pathogenicity.
  5. Define the phenotypic and other data needed to assess pathogenicity (e.g., functional assays, histopathology, etc.).
  6. Establish new expert panels to address key neuromuscular disease areas (e.g. Myopathies, LGMD, CMT, etc.).

Expert Panels

Chairs

Coordinators
Please contact a coordinator if you have questions.