2 Matching Annotations
  1. Oct 2026
  2. 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 26 Oct 2026
      c.41T > G

      Case#: No additional case information provided

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Not detectable

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.41T>G (p.L14R)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355945322

      Variant2: c.386-2A>G

      Variant2ClinVarID: 222994

      Variant2CAID: CA356991

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA355945322 CAID:CA356991 ClinVarID:222994 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/humu.23301
  3. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler)
    1
    1. ClingenBaseline 24 Oct 2026
      16

      Case#: Patient 16, born in 2004 (paper published in 2017), 15 months (age at first treatment)

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: Corneal clouding (HP:0007957)

      CaseHPOFreeText: N/A

      CaseNotHPOs: Retinopathy, cataract (HP:0000488, HP:0000518)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 52.1 ng/mol (26 weight matched enzyme reference assay)

      CaseUrineGAGs: 0.22 DS/CS

      CaseERT: Yes

      CaseBMT: Yes, Cord

      Variant1: c.386-2A>G

      Variant1ClinVarID: 222994

      Variant1CAID: CA356991

      Variant2: c.41T>G (p.L14R)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355945322

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222994 CAID:CA356991 CAID:CA355945322 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/aos.13627