1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
    1
    1. ClingenBaseline 25 Oct 2026
      2

      Case#: Patient 2, Gender N/A, 1-2 months old at onset, Southeast Asian

      DiseaseAssertion: Pompe disease

      FamilyInfo: Patient has two previously deceased siblings with cardiomyopathy

      CasePresentingHPOs: HP:0002789, HP:0002240, HP:0005165, HP:0001639 (Tachypnea, Hepatomegaly, Shortened PR interval, Hypertrophic cardiomyopathy)

      CaseHPOFreeText: BVH, EF 30%

      CaseNotHPOs: N/A

      CaseNotHPOFreeText:N/A

      CasePreviousTesting: GAA 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.1935C>A (p.Asp645Glu)

      ClinVar: 4029

      CAID: CA116610

      gnomAD: Highes population MAF = 0.001729 (East Asian)

      Variant2: NM_000152.5(GAA):c.1933G>C (p.Asp645His)

      ClinVar:<br /> 189013

      CAID: CA274256

      gnomAD: Highest population MAF = 0.00005534 (East Asian)

      ParentalGenotype: Father was carrier of variant 1 c.1935C>A ( p.Asp645Glu

      Mother was carrier of the Variant 2 c.1933G>C (p.Asp645His

      PreviouslyPublished:

      CaseInfo Individual DiseaseEntity:PompeDisease Gene:GAA Zygosity:CompoundHeterozygous InheritancePattern:AutosomalRecessive ClinVarID:189013 CAid:CA274256 ClinVarID:4029 CAid:CA116610 FamilyInfo inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6737665/