1 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)
    1
    1. ClingenBaseline 21 Oct 2026
      11

      Patient11: 62yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0004887, HP:0000822

      HPOsFreeText: GAA = 5.7%, smoker, BMI = 22.3, basilar artery fenestration, nucleo-capsular and temporo-insular lacunes

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 24yr disease duration, variants in cis

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.1551+1G>C

      ClinVar: 554983, https://www.ncbi.nlm.nih.gov/clinvar/variation/554983/

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:554983 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s10545-015-9913-x