4 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of infants at risk for developing Fabry, Pompe or Mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry
    4
    2. ClingenBaseline 23 Oct 2026
      Three samples were confirmed to have nucleotide changes consistent with MPS-I (Table II).

      Case#:Table II, MPS-I, Enzyme activity=1.15

      DiseaseAssertion: MPS1

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: 1.15 umol/hr/L blood (newborn blood spot)

      CaseUrineGAGs:

      CaseERT:

      CaseBMT:

      Variant1:c.246C>G (p.His82Gln)

      Variant1ClinVarID: 92637

      Variant1CAID: CA220506

      Variant2: c.246C>G (p.His82Gln)

      Variant2ClinVarID: 92637

      Variant2CAID: CA220506

      AdditionalVariants:

      ParentalGenotype:

      PreviouslyPublished

      Gene:IDUA HGNC:5391 PMCID:PMC3725184 InheritancePattern:AutosomalRecessive DiseaseEntity:MPS1 Mutation:Germline Zygosity:Homozygous ClinVarID: 92637 inferred_gene_hgnc:5391 inferred_gene_source:hgnc_tag IDUA variant annotation
    3. ClingenBaseline 23 Oct 2026
      Three samples were confirmed to have nucleotide changes consistent with MPS-I (Table II).

      Case#:Table II, MPS-1, Enzyme activity=1.05

      DiseaseAssertion: MPS1

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: 1.05 umol/hr/L blood, newborn blood spot

      CaseUrineGAGs:

      CaseERT:

      CaseBMT:

      Variant1:c.208C>T (p.Gln70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.208C>T (p.Gln70X)

      Variant2ClinVarID: 11909

      Variant2CAID: CA204563

      AdditionalVariants:

      ParentalGenotype:

      PreviouslyPublished

      Gene:IDUA HGNC:5391 PMCID:PMC3725184 InheritancePattern:AutosomalRecessive DiseaseEntity:MPS1 Mutation:Germline Zygosity:Homozygous ClinVarID: 11909 inferred_gene_hgnc:5391 inferred_gene_source:hgnc_tag IDUA variant annotation
    4. ClingenBaseline 22 Oct 2026
      Three samples were confirmed to have nucleotide changes consistent with MPS-I (Table II).

      Case#:Table II, MPS-1, Enzyme activity=1.06*

      DiseaseAssertion: MPS1

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: 1.06 umol/hr/L blood, newborn blood spot

      CaseUrineGAGs:

      CaseERT:

      CaseBMT:

      Variant1:c.355G>T (p.Asp119Tyr)

      Variant1ClinVarID: 2432701

      Variant1CAID: CA2801882

      Variant2: c.250G>A (p.Gly84Ser)

      Variant2ClinVarID: 726495

      Variant2CAID: CA2801152

      AdditionalVariants:

      ParentalGenotype:

      PreviouslyPublished

      Gene:IDUA HGNC:5391 PMCID:PMC3725184 InheritancePattern:AutosomalRecessive DiseaseEntity:MPS1 Mutation:Germline Zygosity:CompoundHeterozygous ClinvarID: 243201 ClinvarID: 726495 inferred_gene_hgnc:5391 inferred_gene_source:hgnc_tag IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3725184/