Case#: 6/b, age 40, age 36 (report)

DiseaseAssertion: gray zone (Pompe Disease)

FamilyInfo: Family 6, no further information

CasePresenting HPOs: HP:0001288 (Impaired gait)

CaseHPOFreeText: Progressive worsening muscle weakness, vacuolar myopathy biopsy PAS +

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: single gene sequencing/analysis, the results of (NaG/AaGIA > 40 and %INH < 87) or (NaG/AaGIA < 40 and %INH > 87) are considered to be within a gray zone.

Variants:

Variant 1: NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)

ClinVar: 550327

Variant 2:NM_000152.5(GAA):c.-32-13T>G

ClinVar: 4027

ParentalGenotypes: N/A

PreviouslyPublished: N/A

Case#: Patient 9, Gender N/A, Onset at 3-4 months. Death around 1-2 years, Southeast Asian

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001252, HP:0001270, HP:0001640, HP:0005165

Muscular hypotonia, Motor delay, Cardiomegaly, Shortened PR interval)

CaseHPOFreeText: BVH, Ejection fraction 10%, Creatine kinase levels 1,010u/l

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: No GAA measurement . Ejection fraction 10%, Creatine kinase levels 1,010u/l

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

Variant: NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)

ClinVar: 550327

CAID: N/A

gnomAD: Highes population MAF = 0.0001427 (Others)

ParentalGenotype: Both parents were carriers for the viariant c.1941C>G (p.Cys647Trp)

PreviouslyPublished: N/A