Clinical Domain Working Groups

Storage Diseases Variant Curation Expert Panel

Membership

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
Develop Classification Rules
Completed
Pilot Rules
In progress
Expert Panel Approval
Chairs

Coordinators
Please contact a coordinator if you have questions.