O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I

• Jenny Goldstein,
• Amber Waddell,
• Carlos Aschoff,
• Xiangwen Chen-Deutsch,
• Matthew Ellinwood,
• Roberto Mendez,
• Raquel Fernandez,
• Deeksha Bali,
• Troy Lund,
• Laura Pollard,
• Richard Steet,
• Filippo Pinto e Vairo,
• Timothy Wood,
• Lorne Clarke,
• Catherine Rehder

Affiliations

Jenny Goldstein

University of North Carolina at Chapel Hill, Chapel Hill, NC

Amber Waddell

University of North Carolina at Chapel Hill, Chapel Hill, NC

Carlos Aschoff

Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil

Xiangwen Chen-Deutsch

Revvity Inc., Waltham, MA

Matthew Ellinwood

National MPS Society, Durham, NC

Roberto Mendez

University of Wisconsin School of Medicine and Public Health, Madison, WI

Raquel Fernandez

American College of Medical Genetics and Genomics, Bethesda, MD

Deeksha Bali

Duke University Health System, Durham, NC

Troy Lund

University of Minnesota Medical School, Minneapolis, MN

Laura Pollard

Greenwood Genetic Center, Greenwood, SC

Richard Steet

Greenwood Genetic Center, Greenwood, SC

Filippo Pinto e Vairo

Mayo Clinic, Rochester, MN

Timothy Wood

University of Colorado, Anschutz Medical Campus, Aurora, CO

Lorne Clarke

BC Childrens Hospital, Vancouver, BC, Canada

Catherine Rehder

Duke University Health System, Durham, NC