Case2: Female, 42 years onset, 51 years diagnosis, Italy

HPOsFreeText: See Group Phenotypes, ERT started at 32, GAA Activity at ~10 pmol/min/mg before ERT and ~11 after

GroupGenotypingMethod: PCR Amplification and GAA Gene Sequencing

Variant1: NM_000152.4:c.-32-13T>G

ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

Variant2: NM_000152.4:c.1076-1G>C

CAID: CA401364879 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1076-1G%3EC

gnomAD: Not in gnomAD

CaseAddInfo: Late Onset Pompe Disease