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    Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
    1
    1. ClingenBaseline 25 Oct 2026
      c.1293_1312del20(p.Gln433Aspfs*66)

      Case29

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.1293_1312del (p.Gln433Aspfs*66)

      CAID: CA658795249 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1293_1312del

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1716C>G (p.His572Gln)

      CAID: CA401369055 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1716C%3EG

      gnomAD: Not in gnomAD

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod CA658795249 CA401369055 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5907499/