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:
*We are collaborating with the RASopathy Expert panel, who are curating genes for RASopathies, including those that can have HCM as a feature.
|Birgit H. Funke, PhD, FACMG||Executive Leadership|
|Ray Hershberger, MD||Executive Leadership|
|Jenny Goldstein, PhD, CGC||Coordinator|
|Peter van Tintelen, MD, PhD||Member|
|Chris Semsarian, MD, PhD||Member|
|James Ware, PhD||Member|
|Colleen Caleshu, MS, LCGC||Member|
|Jodie Ingles, GradDipGenCouns, MPH, PhD||Member|
|Quinn Wells, MD, PharmD, MSc||Member|
|Nicola Whiffen, PhD||Member|
|Kate Thomson, BSc, FRCPath||Member|
|Kathleen Wallace, BSc (Hons)||Member|
|Jennifer McGlaughon, PhD||Member|
|Courtney Thaxton, PhD||Member|
|Stephanie Crowley, PhD||Member|
|Bryce Seifert, PhD||Member|
|Natasha Strande, PhD||Member|
|Ana Morales, MS, LGC||Member|
Please contact a coordinator if you have questions.
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.