5 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    3
    1. ClingenBaseline 24 Oct 2026
      Abnormal

      Case#: No additional case information provided.

      DiseaseAssertion: Not specified

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Abnormal

      CaseUrineGAGs: Normal

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.250G>A (p.p.G48S)

      Variant1ClinVarID: 726495

      Variant1CAID: CA2801152

      Variant2: c.793-9C>A

      Variant2ClinVarID: 2193713

      Variant2CAID: CA2802095

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:726495 CAID:CA2801152 ClinVarID:2193713 CAID:CA2802095 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 23 Oct 2026
      Abnormal

      Case#: No additional case information provided.

      DiseaseAssertion: Not specified

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Abnormal

      CaseUrineGAGs: Normal

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.250G>A (p.G48S)

      Variant1ClinVarID: 726495

      Variant1CAID: CA2801152

      Variant2: c.757G>T (p.G253C)

      Variant2ClinVarID: 554213

      Variant2CAID: CA2802076

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:726495 CAID:CA2801152 ClinVarID:554213 CAID:CA2802076 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 21 Oct 2026
      Abnormal

      Case#: No additional case information provided.

      DiseaseAssertion: Not specified

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Abnormal

      CaseUrineGAGs: Normal

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1148G>A (p.R383H)

      Variant1ClinVarID: 558189

      Variant1CAID: CA2802205

      Variant2: c.112C>A (p.R89S)

      Variant2ClinVarID: 2432781

      Variant2CAID: CA355945526

      AdditionalVariants: c.250G>A (p.G48S), ClinVarID:726495, CAID:CA2801152

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:558189 CAID:CA2802205 ClinVarID:2432781 CAID:CA355945526 ClinVarID:726495 CAID:CA2801152 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347623005073
  3. 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
    1
    1. 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/
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional assessment of IDUA variants of uncertain significance identified by newborn screening
    1
    1. ClingenBaseline 22 Oct 2026
      c.250G>A

      Case#: Functional assay variant with a clinical significance of being a VUS.

      DiseaseAssertion: MPS-I

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.250G>A (p.G84S)

      Variant1ClinVarID: 726495

      Variant1CAID: CA2801152

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CAID:CA2801152 ClinVarID:726495 inferred_gene_hgnc:12363 inferred_gene_source:ClinVar IDUA variant annotation
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11659309/