Clinical Domain Working Groups

Lysosomal Storage Disorders Variant Curation Expert Panel

Membership 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

Step 1
Step 2
Step 3
Step 4
Define Group
Completed Feb. 2018
Develop Classification Rules
Completed Sep. 2018
Pilot Rules
Completed Aug. 2019
Expert Panel Approval
Completed Aug. 2019
Chairs

Coordinators
Please contact a coordinator if you have questions.