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