Clinical Domain Working Groups
Hypertrophic Cardiomyopathy Gene Curation Expert PanelMembership Documents
Our group is using the ClinGen gene:disease clinical validity framework to assess the strength of evidence for genes implicated to be involved in Hypertrophic Cardiomyopathy. Group members include cardiologists and genetic counselors with clinical and research expertise, molecular laboratory directors and personnel with experience in cardiology genetics, and curators familiar with the ClinGen clinical validity framework.
Our gene list for curation includes 57 genes which meet one or more of the following criteria:
- Present on >30% of 24 commercial cardiomyopathy panels listed in the Genetic Testing Registry (GTR) (19 of the panels were specific for HCM; data obtained for the GTR in Jan 2016): 29 genes
- Present on the Illumina TruSight panel (Pua et al, 2016): Additional 15 genes (+ 6 RASopathy genes*)
- Expert opinion: 11 genes
*We are collaborating with the RASopathy Expert panel, who are curating genes for RASopathies, including those that can have HCM as a feature.
Expert Panel Status - Approved Expert Panel
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesPublications - January 25, 2019
Gene-Disease Validity Standard Operating Procedures, Version 6Curation Activity Procedures - August 29, 2018 Archived Document
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.