Hypertrophic Cardiomyopathy Gene Curation Expert Panel


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 55 genes which meet one or more of the following criteria:

  1. 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
  2. Present on the Illumina TruSight panel (Pua et al, 2016): Additional 15 genes (+ 6 RASopathy genes*)
  3. 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 Status - Approved Expert Panel

Step 1
Step 2
Define Group
Complete
Expert Panel Approval
Complete

Leadership

Birgit H. Funke, PhD, FACMG

Ray Hershberger, MD


Coordinators

Please contact a coordinator if you have questions.

Jenny Goldstein, PhD, CGC


Membership

19 members contribute to the Hypertrophic Cardiomyopathy Gene EP. All Members
What is GENE CURATION?

A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.