P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel*

• Shruthi Mohan,
• Irene DeBiase,
• Tatiana Yuzyuk,
• Alexa Dickson,
• Tiziano Pramparo,
• Stephanie Francis,
• Pepper St. Clair,
• Rachel Logan,
• Randy Cockerell,
• Raquel Fernandez,
• Ashley Ratzsch,
• Emily Kyle,
• Meredith Weaver,
• Sharon Suchy,
• Ann Moser,
• Rong Mao,
• Nancy Braverman

Affiliations

Shruthi Mohan

University of North Carolina at Chapel Hill

Irene DeBiase

ARUP Laboratories

Tatiana Yuzyuk

ARUP Laboratories

Alexa Dickson

Washington University in St. Louis

Tiziano Pramparo

Mirum Pharmaceuticals

Stephanie Francis

ARUP Laboratories

Pepper St. Clair

University of North Carolina at Chapel Hill

Rachel Logan

Children’s Healthcare of Atlanta

Randy Cockerell

University of North Carolina at Chapel Hill

Raquel Fernandez

American College of Medical Genetics & Genomics

Ashley Ratzsch

American College of Medical Genetics & Genomics

Emily Kyle

American College of Medical Genetics & Genomics

Meredith Weaver

American College of Medical Genetics & Genomics

Sharon Suchy

GeneDx

Ann Moser

Kennedy Krieger Institute

Rong Mao

ARUP Laboratories

Nancy Braverman

Research Institute of the McGill University Health Center