Clinical Domain Working Groups

Congenital Myopathies Gene Curation Expert Panel

Membership 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

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Expert Panel Approval