Broad Institute of MIT and Harvard
United States of America-
Pamela Ajuyah Robertson, PhD -
Mutaz Amin, MD, PhD -
Danielle Azzariti, MS, CGC -
Larry Babb -
Ellie Broeren, BA -
Alicia Byrne, PhD -
Marina DiStefano, PhD, FACMG -
Stephanie DiTroia, PhD -
Hannah Dziadzio, BA -
Enyonam Edoh, BS -
Kyle Ferriter, MS -
Vijay Ganesh, MD, PhD -
Vanessa Gitau, BA -
Carmen Glaze, BS
-
Steven Harrison, PhD -
Sean Jurgens, MD, MSc
-
Kat Lafferty
-
Dennis Lal, PhD -
Gabrielle Lemire, MD -
Chloe Mighton -
Anne O'Donnell-Luria, MD, PHD -
Terry O'Neill, MS -
Andrea Oza, MS, CGC -
Kelley Paris, BS -
Julie Ratliff, BS -
Heidi Rehm, PhD -
Kathryn Russell, BSc
-
Kayla Socarras, PhD -
Sarah Stenton
-
Kezang Tshering, BA -
Ryan Webb, BS
ClinGen Members
Working Groups
- Ancestry and Diversity
- Biocurator
- ClinGen Community Curation (C3)
- ClinGen Curation of ClinVar
- Clinical Domain Working Groups
- Curated Disease Entity
- Data Access, Protection, and Confidentiality
- Data Platform
- Disease Naming Advisory Committee
- Dosage Sensitivity Curation
- Education, Coordination and Training
- Gene Curation
- General Gene Dosage Sensitivity Subgroup
- Hearing Loss CDWG
- Kidney Disease CDWG
- Low Penetrance/Risk Allele
- Lumping and Splitting
- Multigenic Disease Taskforce
- Partnership
- Pharmacogenomics Interpretation Committee
- RASopathy CDWG
- Rheumatologic Autoimmune Disease CDWG
- Sequence Variant Interpretation
- Skeletal Disorders CDWG
- Steering Committee
- SVI Variant Curation Expert Panel Review Committee
- Variant Curation
Expert Panels
- Alport Syndrome Variant Curation Expert Panel
- Brain Malformations Gene Curation Expert Panel
- Brain Malformations Variant Curation Expert Panel
- Childhood, Adolescent and Young Adult Cancer Predisposition Gene Curation Expert Panel
- Complement-Mediated Kidney Diseases Gene Curation Expert Panel
- Congenital Anomalies of the Kidney and Urinary Tract Gene Curation Expert Panel
- Congenital Heart Disease Gene Curation Expert Panel
- Congenital Heart Disease Variant Curation Expert Panel
- Congenital Myopathies Gene Curation Expert Panel
- Congenital Myopathies Variant Curation Expert Panel
- Craniofacial Malformations Gene Curation Expert Panel
- DICER1 and miRNA-Processing Gene Variant Curation Expert Panel
- Epilepsy Gene Curation Expert Panel
- Epilepsy Sodium Channel Variant Curation Expert Panel
- General Gene Curation Expert Panel
- Glomerulopathy Gene Curation Expert Panel
- Hearing Loss Gene Curation Expert Panel
- Hearing Loss Variant Curation Expert Panel
- Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel
- Hereditary Cardiovascular Disease Gene Curation Expert Panel
- Intellectual Disability and Autism Gene Curation Expert Panel
- Kidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel
- Kidney Cystic and Ciliopathy Disorders Variant Curation Expert Panel
- Leukodystrophy and Leukoencephalopathy Gene Curation Expert Panel
- Limb Girdle Muscular Dystrophy Variant Curation Expert Panel
- Muscular Dystrophies and Myopathies Gene Curation Expert Panel
- Optic Nerve Atrophy Variant Curation Expert Panel
- Prenatal Gene Curation Expert Panel
- RASopathy Gene Curation Expert Panel
- RASopathy Variant Curation Expert Panel
- Retina Gene Curation Expert Panel
- Skeletal Disorders Gene Curation Expert Panel
- Skeletal Disorders Variant Curation Expert Panel
- Syndromic Disorders Gene Curation Expert Panel
- Tubulopathy Gene Curation Expert Panel