1 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
    1
    1. ClingenBaseline 24 Oct 2026
      For GAA (Pompe disease) screening

      CaseP4-GAA: female, ethnicity = European, country origin = Italy

      CasePresentingHPOs:

      HPOsFreeText: enzyme activity = 2.22

      CaseNotHPOs: HP:0010899, HP:0010916, HP:0003236

      CaseAddInfo: homozygous

      CasePreviousTesting: initial and confirmatory DBS, biochemical tests

      CaseGenotypingMethod: mutation analyses

      Variant: NM_000152.4(GAA):c.533G>A (p.Arg178His)

      ClinVar: 554969; https://www.ncbi.nlm.nih.gov/clinvar/variation/554969/

      gnomAD: 2.646e-05, http://exac.broadinstitute.org/variant/17-78078918-G-A

      Individual PreviousTesting Variant CaseInfo EnzymeActivity ClinVarID:554969 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s10545-017-0098-3