Clinical Domain Working Groups
Clinical Domain WG Expert Panels Status
Cardiovascular CDWG Brugada Syndrome Gene Curation Expert Panel Status -
Dilated Cardiomyopathy/Arrhythmogenic right ventricular cardiomyopathy Gene Curation Expert Panel (In progress) Status -
Familial Hypercholesterolemia Variant Curation Expert Panel (In progress) Status - Step 3
Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel Status -
Hypertrophic Cardiomyopathy Gene Curation Expert Panel Status -
Inherited Cardiomyopathy Variant Curation Expert Panel Status - Step 4
KCNQ1 Variant Curation Expert Panel (In progress) Status - Step 2
Long QT Syndrome Gene Curation Expert Panel (In progress) Status -
Hearing Loss CDWG Hereditary Hearing Loss Gene Curation Expert Panel Status -
Hereditary Hearing Loss Variant Curation Expert Panel (In progress) Status - Step 3
Hemostasis/Thrombosis CDWG Platelet Disorders Expert Panel N/A
Hereditary Cancer CDWG Breast and Ovarian Cancer Gene Curation Expert Panel Status -
CDH1 Variant Curation Expert Panel (In progress) Status - Step 3
Colon Cancer and Polyposis Gene Curation Expert Panel Status -
Hereditary Cancer Gene Curation Working Group (In progress) Status -
Myeloid Malignancy Variant Curation Expert Panel (In progress) Status - Step 1
PTEN Variant Curation Expert Panel (In progress) Status - Step 3
Somatic/Germline Variant Curation Group (In progress) Status - Step 1
TP53 Variant Curation Expert Panel (In progress) Status - Step 3
Inborn Errors of Metabolism CDWG Aminoacidopathy Gene Curation Expert Panel (In progress) Status -
Fatty Acid Oxidation Gene Curation Expert Panel (In progress) Status -
GAA Expert Panel (In progress) Status - Step 2
Mitochondrial Disease Gene Curation Expert Panel (In progress) Status -
Mitochondrial Disease Variant Curation Expert Panel (In progress) Status - Step 3
PAH Variant Curation Expert Panel Status - Step 4
Monogenic Diabetes CDWG Monogenic Diabetes Variant Curation Expert Panel (In progress) Status - Step 2
Neurodevelopmental Disorders CDWG Autism and Intellectual Disability Gene Curation Expert Panel Status -
Epilepsy Gene Curation Expert Panel Status -
Rett/Angelman-like Variant Curation Expert Panel (In progress) Status - Step 2
RASopathy CDWG RASopathy Gene Curation Committee Status -
RASopathy Variant Curation Expert Panel Status - Step 4

Leadership

Jonathan Berg, MD, PhD

Sharon E. Plon, MD, PhD

Heidi Rehm, PhD


Coordinators

Please contact a coordinator if you have questions.

Laura Milko, PhD
laura_milko@med.unc.edu


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Laura Milko, PhD
laura_milko@med.unc.edu


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.


What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.