4 Matching Annotations
  1. Oct 2026
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ajhg00053-0036.pdf
    1
    1. ClingenBaseline 26 Oct 2026
      M3)

      Case#: Patient M3, Muslim religious group, located in Gaza. The cells of the patient were listed in the catalog of the Human Genetic Mutant Cell Repository as "Hurler/Scheie". However, the patient at age 6 years had been described as having a typical MPS1-H phenotype except for apparently normal intelligence (measured across a language barrier).

      DiseaseAssertion: MPS1-H/S or MPS1-H

      FamilyInfo: Parents were found to have both mutations were found in heterozygous form in the DNA. Affected brother deceased at age 9.

      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.1225G>A (p.G409R)

      Variant1ClinVarID: 1084956

      Variant1CAID: CA91169920

      Variant2: (p.X654C)

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo c.1225G>A ClinVarID:1084956 CAID:CA91169920 p.X654C inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/instance/1682364/pdf/ajhg00053-0036.pdf
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Insights into Mucopolysaccharidosis I from the structure and action of α-L-Iduronidase
    1
    1. ClingenBaseline 25 Oct 2026

      Case#: Variant not associated with a proband. Variant listed in supplementary materials in Supplementary Table 4

      DiseaseAssertion: Mucopolysaccharidosis type I, MPS I

      FamilyInfo: N/A

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: G409R

      Variant1ClinVarID: 1084956

      Variant1CAID: CA91169920

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished: N/A

      Gene:IDUA DiseaseEntity:MPS1 SupplementalData CaseInfo ClinVarID:1084956 CAID:CA91169920 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4954775/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
    1
    1. ClingenBaseline 21 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 32, Italy

      DiseaseAssertion: MPS1-H/S

      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.1205G>A (p.W402X)

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: c.1225G>A (p.G265R)

      Variant2ClinVarID: 1084956

      Variant2CAID: CA91169920

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:11908 CAID:CA220498 ClinVarID:1084956 CAID:CA91169920 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/21394825/
  5. www.sciencedirect.com www.sciencedirect.com
    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    1
    1. 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.1225G>A (p.G409R)

      Variant1ClinVarID: 1084956

      Variant1CAID: CA91169920

      Variant2: c.1757C>T (p.S386F)

      Variant2ClinVarID: 571910

      Variant2CAID: CA2802396

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1084956 CAID:CA91169920 ClinVarID:571910 CAID:CA2802396 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    sciencedirect.com/science/article/pii/S0022347623005073