Clinical Domain Working Groups
Congenital Myopathies Gene Curation Expert PanelMembership Documents
With the advancement of genomic technologies, many new genes have been described in patients with different types of congenital myopathies and are being included in next-generation sequencing panels by clinical laboratories. With a growing concern for the level of certainty for those genes in respect to their gene:disease relationship, the Congenital Myopathy Expert Panel is focused on curating those genes and variants that have been associated with congenital myopathies. (Coming Soon)
Expert Panel Status - In progress
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.