Case#: Patient 3, Gender N/A, 5-6 months old when diagnosed.13 months when died, Southeast Asian

DiseaseAssertion: Pompe disease

FamilyInfo:

CasePresentingHPOs: HP:0002094 HP:0001639. HP:0005165 (Hypertrophic Cardiomyopathy, Dyspnea, Shortened PR interval)

CaseHPOFreeText: Generalized Muscle weakness

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: GAA enzyme activity in leukocytes was 0% of the normal control value.

PCR of all exons was performed and subsequently subjected to capillary Sanger sequencing in both directions

Variant1: NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)

ClinVar:<br /> 555820

CAID: CA401364951

gnomAD: N/A

Variant2: NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)

ClinVar: 188902

CAID: CA274102

gnomAD: Highest population MAF = 0.0003365 (South Asian)

ParentalGenotype: Father was carrier for Variant1 NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)

Mother was carrier of Variant 2 NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)

PreviouslyPublished: N/A