Case#: Patient 2, female, diagnosed 2010 (not given age), age 43 during study period

DiseaseAssertion: Pompe Disease

FamilyInfo: None given

CasePresentingHPOs: None given

CaseHPOFreeText: None given

CaseNotHPOs: None given

CaseNotHPOFreeText: None given

CasePreviousTesting: None given

Variant 1: NM_000152.5:c.-32-13T>A

Variant 1 ClinVarID:

Variant 1 CAid: CA913184742

Variant 2: NM_000152.5:c.307T>G

Variant 2 ClinVarID: 92483

Variant 2 CAid: CA220404

ParentalGenotype: Not provided

Case#: Subject number 16, male, 64 years (report), 56 years (onset), 60 years (diagnosis)

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs:

CaseHPOFreeText: on BiPAP, ambulatory, assistive device (cane)

CaseNotHPOs: HP:0009830, HP:0000360, HP:0002650, HP:0000939, HP:0000821, HP:0000365, HP:0002617, HP:0100647, HP:0010788, HP:0001638 (peripheral neuropathy, tinnitus, scoliosis, osteoporosis, hypothyroidism, hearing loss, aneurysm, Graves disease, Testicular cancer, cardiomyopathy)

CaseNotHPOFreeText: no infusion reaction, no tracheostomy

CasePreviousTesting: “documented deficiency of acid alpha-glucosidase enzyme activity”; on enzyme replacement therapy

Variant 1: NM_000152.5(GAA):c.-32-13T>G (p.Tyr766Ser)

Variant 1 ClinVarID: 4027

Variant 1 CAid: CA116606

Variant 2: NM_000152.5(GAA):c.307T>G

Variant 2 ClinVarID: 92483

Variant 2 CAid: CA220404

Zygosity: Compound heterozygous

ParentalGenotype: N/A