ClinGen Organization Profile

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ClinGen Members

• Roja Ayyadurai

• Kristin Deeb, PhD, FACMG

• Judith Fridovich-Keil, PhD

• Yue “Guan” Guan, PhD, ScM, CGC

• Hyder A. Jinnah, MD, PhD

• Elizabeth Leslie, PhD

• Sarah Mitchell, MD

• Bojana Pencheva, MMSc

• Christopher Porter, M.D.

• Steve Traynelis, PhD

• Jaime Vengoechea

• Hongjie Yuan, PhD

• Karen Zimowski, MD, FAAP

Working Groups

• Actionability
• Hematologic Cancers Taskforce
• Neurological Disorders CDWG
• Population Screening WG

Expert Panels

• Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel
• Childhood, Adolescent and Young Adult Cancer Predisposition Gene Curation Expert Panel
• Craniofacial Malformations Gene Curation Expert Panel
• Galactosemia Variant Curation Expert Panel
• GRIN Disorders Variant Curation Expert Panel
• Hemostasis/Thrombosis Gene Curation Expert Panel
• Limb Girdle Muscular Dystrophy Variant Curation Expert Panel
• Monogenic Diabetes Variant Curation Expert Panel
• Myeloid Malignancy Variant Curation Expert Panel
• Platelet Disorders Variant Curation Expert Panel
• RASopathy Gene Curation Expert Panel
• RASopathy Variant Curation Expert Panel
• Urea Cycle Disorders Variant Curation Expert Panel