O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience

• Emily Groopman,
• Amanda Thomas-Wilson,
• Shruthi Mohan,
• Jennifer Goldstein,
• Meredith Weaver,
• Raquel Fernandez,
• Heidi Wallis,
• Ljuba Caldovic,
• Nicholas Ah Mew,
• Irene De Biase,
• Ann Moser,
• Sharon Suchy,
• Tatiana Yuzyuk,
• Sarah Young,
• Saadet Mercimek-Andrews,
• Nancy Braverman,
• Rong Mao

Affiliations

Emily Groopman

Broad Institute of MIT and Harvard, Cambridge, MA; Boston Children’s Hospital, Boston, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA

Amanda Thomas-Wilson

New York Genome Center, NY

Shruthi Mohan

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

Jennifer Goldstein

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

Meredith Weaver

American College of Medical Genetics and Genomics, Bethesda, MD

Raquel Fernandez

American College of Medical Genetics and Genomics, Bethesda, MD

Heidi Wallis

Association for Creatine Deficiencies, Carlsbad, CA

Ljuba Caldovic

Children’s National Hospital, Washington, DC

Nicholas Ah Mew

Children’s National Hospital, Washington, DC

Irene De Biase

University of Utah School of Medicine, Salt Lake City, UT

Ann Moser

Kennedy-Krieger Institute, Baltimore, MD

Sharon Suchy

GeneDx LLC, Gaithersburg, MD

Tatiana Yuzyuk

University of Utah School of Medicine, Salt Lake City, UT

Sarah Young

Duke University, Durham, NC

Saadet Mercimek-Andrews

Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada

Nancy Braverman

Depts of Human Genetics and Pediatrics, McGill University, Montreal, QC, Canada

Rong Mao

University of Utah School of Medicine, Salt Lake City, UT