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.
|Robert D. Steiner, MD||Executive Leadership|
|Catherine Rehder, PhD||Executive Leadership|
|Meredith Weaver PhD, ScM, CGC||Coordinator|
|Deeksha Bali, PhD||Member|
|Heather Baudet, MD, PhD||Member|
|Michele Caggana, ScD, FACMG||Member|
|Madhuri Hegde, PhD, FACMG||Member|
|Jixia Liu, PhD||Member|
|Jennifer McGlaughon, PhD||Member|
|Sean Mooney, PhD||Member|
|Bryce Seifert, PhD||Member|
|Cindy Si, PhD||Member|
|Courtney Thaxton, PhD||Member|
|Amanda Thomas, PhD||Member|
|Rupa Udani, PhD||Member|
|Michael Watson, PhD, FACMG||Member|
|Jenny Goldstein, PhD, CGC||Member|
Please contact a coordinator if you have questions.
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.