Clinical Domain Working Groups
Lysosomal Storage Disorders Variant Curation Expert PanelMembership Documents
Our main goal is to curate genes and variants involved in metabolic storage diseases. Initially, we are focusing efforts on modification of the ACMG-AMP criteria for interpretation of variants within GAA. Deficiency of acid alpha-glucosidase, encoded by GAA, causes Pompe disease (glycogen storage disease type II; acid maltase deficiency). Accurate interpretation of variants within GAA is important for confirmation of the diagnosis in symptomatic patients of any age, asymptomatic infants identified by newborn screening, as well as testing for family members.
Expert Panel Status
ClinGen Lysosomal Storage Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1Curation Activity Procedures - August 21, 2019
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.