P007: PP4 Criteria Specifications for Proximal Urea Cycle Disorders*
Genetics in Medicine Open（2024）
Children's National Hospital | University of California San Diego | American College of Medical Genetics and Genomics | Ambry Genetics | UPMC Children's Hospital of Pittsburgh | Prevention Genetics | University of Colorado | Invitae | New York Genome Center
Abstract
The ClinGen Urea Cycle Disorders Variant Curation Expert Panel (UCD VCEP) was established in 2021 to evaluate evidence and classify genomic variants identified in the genes coding the 6 enzymes and 2 transporters of the urea cycle. The ClinGen VCEP which consists of biocurators and experts in specific genes or their associated conditions work to curate information about specific genetic variants. The 2015 ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Pathology) Sequence Variant Interpretation Guidelines provides a standard evidence-based framework for the interpretation of sequence variants, allowing greater consistency in DNA sequence interpretation between reference laboratories.
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Inborn Errors of Metabolism
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