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

      CasePDC-2: Male, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.84, MS/MS ennzyme activity at 1.34

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.3:c.693-5C>T

      CAID: CA8814990 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.693-5C%3ET

      gnomAD: East Asian 3.516e-4, Overall 3.900e-5 http://gnomad.broadinstitute.org/variant/17-78081351-C-T

      Variant2: 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

      CaseAddInfo: Patient is either a carrier or has a pseudodeficency allele

      Individual CaseInfo Variant GenotypingMethod CA8814990 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 21 Oct 2026

      CaseOPM-2: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.34 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.693-5C>T

      CAID: CA8814990 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.693-5C%3ET

      gnomAD: East Asian 3.516e-4, Overall 3.900e-5 http://gnomad.broadinstitute.org/variant/17-78081351-C-T

      Variant2: 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

      CaseAddInfo: One Pompe Mutation, Nomenclature indicates Variants 1 and 2 are in cis and the other allele is Wildtype

      Individual CaseInfo Variant GenotypingMethod CA8814990 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    3. ClingenBaseline 21 Oct 2026

      CaseOPOPD-10: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.34 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.693-5C>T

      ClinVar: CA8814990 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.693-5C%3ET

      gnomAD: East Asian 3.516e-4, Overall 3.900e-5 http://gnomad.broadinstitute.org/variant/17-78081351-C-T

      Variant2: 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

      CaseAddInfo: One Pompe Mutation and One Pseudodeficency Mutation

      Individual CaseInfo Variant GenotypingMethod CA8814990 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/