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    Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
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    1. ClingenBaseline 24 Oct 2026
      c.546+2_5deltggg

      Case5

      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.546+2_5delTGGG

      CAID: CA502402612 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.546%2B2_546%2B5delTGGG

      gnomAD: European (Non-Finnish) 9.395e-6, Overall 4.224e-6 http://gnomad.broadinstitute.org/variant/17-78078930-CGGTG-C

      Variant2: NM_000152.4:c.1650dupG (p.Thr551Aspfs*85)

      CAID: CA8815425 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1650dupG

      gnomAD: African 6.178e-5, Overall 3.992e-6 http://gnomad.broadinstitute.org/variant/17-78085789-T-TG

      CaseAddInfo: Infantile Onset Pompe Disease, Patient has a sibling with the same genotype with Pompe

      Individual CaseInfo Variant GenotypingMethod CA502402612 CA8815425 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5907499/