Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

Melanie Lacaria; Jennifer L Goldstein; Carlos Aschoff; Kristen Brown; Dipti Deshpande; Xiangwen Chen-Deutsch; N Matthew Ellinwood; Mariam R Farman; Roberto Mendez; Irina Vlasova-St Louis; Jaime Prout; Katelynn Roark; Arthavan Selvanathan; Amber Waddell; Raquel Fernandez; Ashley C Ratzsch; Meredith Weaver; Deeksha Bali; Taraka Donti; Troy C Lund; Laura Pollard; Filippo Vairo; Timothy Wood; Catherine Rehder; Lorne A Clarke

doi:10.2139/ssrn.6351769

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Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

https://doi.org/10.2139/ssrn.6351769

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

Jan 1, 2026
SSRN Electronic Journal
Melanie Lacaria +24 more

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Abstract

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen Lysosomal Diseases Variant Curation Expert Panel