3 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
    3
    1. ClingenBaseline 24 Oct 2026

      CaseOPOPD-57: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.60 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1958C>A (p.Thr653Asn)

      CAID: CA8815557 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1958C%3EA

      gnomAD: East Asian 2.548e-4, Overall 1.825e-5 http://gnomad.broadinstitute.org/variant/17-78086744-C-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 3 other people have this genotype

      Individual CaseInfo Variant GenotypingMethod CA8815557 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 22 Oct 2026

      CaseLP-1: Female, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.44, MS/MS ennzyme activity at 0.08

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.3:c.424_440del (p.Ser142Leufs*29)

      CAID: CA658795228 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.424_440del17

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1958C>A (p.Thr653Asn)

      CAID: CA8815557 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1958C%3EA

      gnomAD: East Asian 2.548e-4, Overall 1.825e-5 http://gnomad.broadinstitute.org/variant/17-78086744-C-A

      CaseAddInfo: Suspected Late Onset Pompe Disease

      Individual CaseInfo GenotypingMethod Variant CA658795228 CA8815557 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    3. ClingenBaseline 21 Oct 2026

      CaseLP2-2: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.08 umol/hr/L, Serum CK at 109 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.424_440del17 (p.Ser142Leufs*29)

      CAID: CA658795228 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.424_440del17

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1958C>A (p.Thr653Asn)

      CAID: CA8815557 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1958C%3EA

      gnomAD: East Asian 2.548e-4, Overall 1.825e-5 http://gnomad.broadinstitute.org/variant/17-78086744-C-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod CA658795228 CA8815557 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/