ClinGen Member Profile

Courtney Thaxton, PhD

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Working Groups & Expert Panels

• Arrhythmogenic Right Ventricular Cardiomyopathy Gene Curation Expert Panel
• Biocurator
• Clinical Domain Working Groups
• Community Curation
• Data Platform
• Education, Coordination and Training
• Epilepsy Gene Curation Expert Panel
• Gene Curation
• Hypertrophic Cardiomyopathy Gene Curation Expert Panel
• Intellectual Disability and Autism Gene Curation Expert Panel
• Limb-Girdle Muscular Dystrophies Gene Curation Expert Panel
• Lumping and Splitting
• Monogenic Diabetes Gene Curation Expert Panel
• Monogenic Diabetes Variant Curation Expert Panel
• Neuromuscular CDWG

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Past Groups

• Aminoacidopathy Gene Curation Expert Panel
• Lysosomal Storage Disorders Variant Curation Expert Panel

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