Case#: Subject number 7(L)

DiseaseAssertion: Late Onset Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: CK testing: 283 U/L (30-135 U/L is normal), Hex4: 2.6 mmol/mol Creatinine (≤3.0 mmol/mol Creatinine is normal)

glucosidase activity: GAA activity #1 was 1.05 micromole/L/h and GAA activity #2 (NBS) 0.19 in dried blood spots (>2.10 micromole/L/h is normal). 2.2 in confirmatory testing (>3.88 is normal).

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

Variant 1 ClinVarID: 4027

Variant 1 CAid: CA116606

Variant 2: NM_000152.5(GAA):c.546 G>A

Variant 2 ClinVarID: 280955

Variant 2 CAid: CA8814895

Zygosity: compound heterozygous

ParentalGenotype: N/A

PreviouslyPublished: N/A