Case#: Patient 1, Gender N/A, age N/A, ethnicity unknown

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001638, HP:0003756

(Cardiomyopathy, Skeletal myopathy)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: Sequence analysis of the GAA gene was performed in a CLIA and CAP certified laboratory.

Cross Reactive Immune reaction was indeterminate in peripheral blood mononuclear cells (PBMCs)

Cross Reactive Immune reaction was negative in Dried blood spots.

Variant 1: c.437delT (p.Met146ArgfsX7)

ClinVar: N/A

CAID: N/A

gnomAD: N/A

Variant 2: NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)

ClinVar: 280063

CAID: CA8815664

gnomAD: Two variants with same consequence (protein) were identified.

Highest population MAF = 0.00004011 (African)

Highest population MAF = 0.000008834 (European non-Finnish)

ParentalGenotype: N/A

Previously published: N/A