Article
Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.
Molecular genetics and metabolism - 1 Jul 2026
Lacaria Melanie, Goldstein Jennifer L, Aschoff Carlos, Brown Kristen, Deshpande Dipti, Chen-Deutsch Xiangwen, Ellinwood Matthew, Farman Mariam R, Mendez Roberto, Louis Irina Vlasova-St, Prout Jaime, Roark Katelynn, Selvanathan Arthavan, Stafford Amber, Fernandez Raquel, Ratzsch Ashley C, Weaver Meredith, Bali Deeksha, Donti Taraka, Lund Troy, Pollard Laura, Vairo Filippo Pinto E, Wood Timothy, Rehder Catherine, Clarke Lorne
Abstract excerpt
With the increasing use of DNA sequencing technologies in healthcare, an accurate understanding of the clinical relevance of genetic variants is vital for the appropriate integration of these results into personalized care. To address this need, the NIH-funded Clinical Genome Resource (ClinGen) Lysosomal Diseases Variant Curation Expert Panel (VCEP) has developed variant classification guidance for IDUA, the gene...
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