2 Matching Annotations
  1. Oct 2026
  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
    1
    1. ClingenBaseline 22 Oct 2026
      1

      Case#: Patient 1, female, 2 years (age at presentation)

      DiseaseAssertion: MPS1-H

      FamilyInfo: Consanguinity in the family not present for this patient.

      CasePresentingHPOs: Corneal clouding, coarse facial features, dysostosis multiplex, intellectual disability (HP:0007957, HP:0000256, HP:0000943, HP:0010864)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1A>G (p.M1?)

      Variant1ClinVarID: 1323098

      Variant1CAID: CA355945206

      Variant2: c.1A>G (p.1M?)

      Variant2ClinVarID: 1323098

      Variant2CAID: CA355945206

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA355945206 ClinVarID:1323098 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/cge.12795
  3. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I
    1
    1. ClingenBaseline 21 Oct 2026
      c.1A > G

      Case#: No additional case information provided

      DiseaseAssertion: MPS1-H

      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.1A>G (p.M1?)

      Variant1ClinVarID: 1323098

      Variant1CAID: CA355945206

      Variant2: c.1A>G (p.M1?)

      Variant2ClinVarID: 1323098

      Variant2CAID: CA355945206

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1323098 CAID:CA355945206 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/humu.23301