Case#: Subject number 2(L)

DiseaseAssertion: Late Onset Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: CK testing: 72 U/L (28-300 U/L is normal), AST: 21 U/L (24-72 U/L is normal), ALT: 23 U/L (17-63 U/L is normal), Hex4: 4.2 mmol/mol Creatinine (≤20 mmol/mol Creatinine is normal)

glucosidase activity: GAA activity #1 was 1.86 micromole/L/h and GAA activity #2 (NBS) 1.44 in dried blood spots (>2.10 micromole/L/h is normal). 5.3 in confirmatory testing (>6.7 is normal).

Variant 1: NM_000152.5(GAA):c.2238G>C

Variant 1 ClinVarID: 265160

Variant 1 CAid: CA8815665

Variant 2: NM_000152.5(GAA):c.1552-3C>G

Variant 2 ClinVarID: 419722

Variant 2 CAid: CA8815383

Zygosity: compound heterozygous

ParentalGenotype: N/A

PreviouslyPublished: N/A