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    Novel GAA mutations in patients with Pompe disease
    2
    1. ClingenBaseline 06 Nov 2026
      2/b

      Case#: 2/b, age 11, age 5 (report)

      DiseaseAssertion: Pompe Disease

      FamilyInfo: Family 2, no further information

      CasePresenting HPOs:HP:0002878, HP:0012378, HP:0003546, HP:0001324 (Respiratory failure, fatigue, exercise intolerance, muscle weakness)

      CaseHPOFreeText: valvular myopathy, biopsy with vacuolar myopathy with PAS +

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: single gene sequencing/analysis, 105.01 NaG/AaGIA, 90.98% inhibition of GAA; NaG/AaGIA above 40 and %INH above 87 are in the affected range

      Variants:

      Variant 1:NM_000152.5(GAA):c.377G>A (p.Trp126Ter)

      ClinVar: 932904

      Variant 2: NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)

      ClinVar: 279811

      ParentalGenotypes: N/A

      PreviouslyPublished: N/A

      Individual CaseInfo DiseaseEntity:PompeDisease InheritancePattern:AutosomalRecessive Gene:GAA PreviousTesting:GAAAnalysis Zygosity:Heterozygous ClinvarID:932904 ClinvarID:279811 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      2/a

      Case#: 2/a, age 20, age 14 (report)

      DiseaseAssertion: Pompe Disease

      FamilyInfo: Family 2, no further information

      CasePresenting HPOs:HP:0002878, HP:0012378, HP:0003546, HP:0001324 (Respiratory failure, fatigue, exercise intolerance, muscle weakness)

      CaseHPOFreeText: valvular myopathy, biopsy with vacuolar myopathy with PAS +

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: single gene sequencing/analysis, 64.47 NaG/AaGIA, 92.28% inhibition of GAA; NaG/AaGIA above 40 and %INH above 87 are in the affected range

      Variants:

      Variant 1:NM_000152.5(GAA):c.377G>A (p.Trp126Ter)

      ClinVar: 932904

      Variant 2: NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)

      ClinVar: 279811

      ParentalGenotypes: N/A

      PreviouslyPublished: N/A

      Individual CaseInfo DiseaseEntity:PompeDisease InheritancePattern:AutosomalRecessive Gene:GAA PreviousTesting:GAAAnalysis Zygosity:Heterozygous ClinvarID:932904 ClincarID:279811 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S0378111915001584