ClinGen Organization Profile

---

ClinGen Members

• Vimla Aggarwal, MBBS, FACMG

• Roy Alcalay, MD, MS

• Rando Allikmets, PhD

• Anca Askanase, MD, MPH

• Caitlin Baptiste, MD

• Emily P. Callejo

• Wendy Chung, MD, PhD

• Eve Coben, BA

• Jeanine D'Armiento, MD, PhD

• Lauren Fries, BA

• Stephanie Galloway, MS

• Christine Kim Garcia, MD, PhD

• Yevgeniya Gartshteyn, MD, MS

• Jessica Giordano, MS, CGC

• Sarah Griffen, BA

• Matthew Harms, MD

• Elizabeth Harrington, MS, CGC

• Robert Kass, Ph.D.

• Jun Liao

• Emily M. Mace, PhD

• Hila Milo Rasouly, PhD

• Cristiane Moreno, MD, PhD

• Volkan Okur, MD

• Madhulatha Pantrangi, PhD

• Hemali Phatnani, PhD

• Simone Sanna-Cherchi

• Isabelle Schrauwen, PhD

• Carrie Shawber, PhD

• Stephen Tsang, MD, PhD

• Ronald Wapner, MD

• Carrie Welch, PhD

• David Zhang, MD

Working Groups

• Cardiovascular CDWG
• Education, Coordination and Training
• Kidney Disease CDWG
• Neurodevelopmental Disorders CDWG
• Neurological Disorders CDWG
• Neuromuscular CDWG
• Pulmonary CDWG

Expert Panels

• ABCA4 Variant Curation Expert Panel
• Amyotrophic Lateral Sclerosis Spectrum Disorders Gene Curation Expert Panel
• Amyotrophic Lateral Sclerosis Spectrum Disorders Variant Curation Expert Panel
• Cerebral Creatine Deficiency Syndromes Variant 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
• Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel
• Glucose-6-phosphate dehydrogenase Variant Curation Expert Panel
• Hearing Loss Gene Curation Expert Panel
• Hearing Loss Variant Curation Expert Panel
• Hereditary Cancer Gene Curation Expert Panel
• Hereditary Cardiovascular Disease Gene Curation Expert Panel
• Intellectual Disability and Autism Gene Curation Expert Panel
• Interstitial Lung Disease Gene Curation Expert Panel
• Monogenic Diabetes Variant Curation Expert Panel
• Monogenic Systemic and Incomplete Lupus Erythematosus Gene Curation Expert Panel
• Myeloid Malignancy Variant Curation Expert Panel
• Parkinson's Disease Gene Curation Expert Panel
• Parkinson's Disease Variant Curation Expert Panel
• Potassium Channel Arrhythmia Variant Curation Expert Panel
• Prenatal Gene Curation Expert Panel
• Pulmonary Hypertension Gene Curation Expert Panel
• Pulmonary Hypertension Variant Curation Expert Panel
• SCID-CID Gene Curation Expert Panel
• Somatic Mosaicism of Vascular Anomalies Gene Curation Expert Panel