Case15: Female, 39 years onset, 40 years diagnosis, Italy

HPOsFreeText: See Group Phenotypes, ERT started at 41, GAA Activity at ~6.5 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.2237G>A (p.Trp746Ter)

ClinVar: 280063 https://www.ncbi.nlm.nih.gov/clinvar/variation/280063/

gnomAD: European (Non-Finnish) 8.834e-6, Overall 3.988e-6 http://gnomad.broadinstitute.org/variant/17-78090814-G-A

CaseAddInfo: Late Onset Pompe Disease

CaseVI,3: Adult onset, 64 years diagnosis

CasePresentingHPOs: HP:0003701, HP:0002795, HP:0003236 (Proximal muscle weakness, Abnormal respiration, Increased serum CK)

HPOsFreeText: GAA activity from dried blood spot: 0.16%, Forced Vital Capacity Seated: 1550 (48%), Plasma CK 2.5-5x Normal

CaseAddInfo: Late-Onset Pompe Disease