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    Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease
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    1. ClingenBaseline 22 Oct 2026
      LOPD-3

      CaseLOPD-3: 2 weeks diagnosis

      HPOsFreeText: GAA activity 2.7 (nmol · h−1 · mg−1), Mean percentage of normal 3.7%

      GenotypingMethod: Newborn Screening Panels

      Variant: NM_000152.4:c.2647-7G>A

      ClinVar: 551106 https://www.ncbi.nlm.nih.gov/clinvar/variation/551106/

      gnomAD: South Asian 3.266e-5, Overall 1.780e-5 http://gnomad.broadinstitute.org/variant/17-78092445-G-A

      CaseAddInfo: Late Onset Pompe Disease, Patient is homozygous for the above variant

      Individual GenotypingMethod Variant CaseInfo ClinVarID:551106 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5413112/