P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1

• Shruthi Mohan,
• Irene De Biase,
• Tatiana Yuzyuk,
• Alexa Dickson,
• Tiziano Pramparo,
• Stephanie Francis,
• Meredith Weaver,
• Raquel Fernandez,
• Sharon Suchy,
• Ann Moser,
• Rong Mao,
• Nancy Braverman

Affiliations

Shruthi Mohan

University of North Carolina

Irene De Biase

ARUP Laboratories

Tatiana Yuzyuk

ARUP Laboratories

Alexa Dickson

Washington University in St. Louis

Tiziano Pramparo

Travere Therapeutics

Stephanie Francis

ARUP Laboratories

Meredith Weaver

American College of Medical Genetics and Genomics

Raquel Fernandez

American College of Medical Genetics and Genomics

Sharon Suchy

GeneDx

Ann Moser

Kennedy Krieger Institute

Rong Mao

ARUP Laboratories

Nancy Braverman

Research Institute of the McGill University Health Center