3 Matching Annotations
  1. Oct 2026
  2. www.liebertpub.com www.liebertpub.com
    Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations | Genetic Testing and Molecular Biomarkers
    2
    1. ClingenBaseline 25 Oct 2026
      PD21

      Patient21: Female, Northern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1802C>T (p.Ser601Leu)

      ClinVar: 194154, https://www.ncbi.nlm.nih.gov/clinvar/variation/194154/

      gnomAD: n/a

      Variant2: NM_000152.3:c.1844G>T

      CAID: CA401369601, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401369601

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:194154 CA401369601 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 23 Oct 2026
      PD13

      Patient13: Female, Northern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1802C>T (p.Ser601Leu)

      ClinVar: 194154, https://www.ncbi.nlm.nih.gov/clinvar/variation/194154/

      gnomAD: n/a

      Variant2: NM_000152.3:c.2411G>A

      CAID: CA401325125, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401325125

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:194154 CA401325125 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    URL

    liebertpub.com/doi/full/10.1089/gtmb.2016.0424
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease—an MRI study
    1
    1. ClingenBaseline 24 Oct 2026
      9

      Case#: Patient 9, female, diagnosed 2014 (not given age of diagnosis), age 34 during study period

      DiseaseAssertion: Pompe Disease

      FamilyInfo: None given

      CasePresentingHPOs: None given

      CaseHPOFreeText: None given

      CaseNotHPOs: None given

      CaseNotHPOFreeText: None given

      CasePreviousTesting: None given

      Variant 1: NM_000152.5:c.-32-13T>G (unclear variant nomenclature)

      Variant 1 ClinVarID: 4027

      Variant 1 CAid: CA116606

      Variant 2: NM_000152.5:c.1802C>T

      Variant 2 ClinVarID: 194154

      Variant 2 CAid: CA274982

      ParentalGenotype: Not provided

      Individual CaseInfo DiseaseEntity:PompeDisease CAid:CA274982 CAid:CA116606 ClinVarID:194154 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8106912/