Storage Disease Expert Panel


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 Status - In progress

Step 1
Step 2
Step 3
Step 4
Define Group
In progress
Develop Classification Rules
Pilot Rules
Expert Panel Approval

Leadership

Robert D. Steiner, MD

Jenny Goldstein, PhD, CGC


Coordinators

Please contact a coordinator if you have questions.

Meredith Weaver PhD, ScM, CGC
mweaver@acmg.net


Membership

18 members contribute to the Storage Diseases EP. All Members
What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.