3 Matching Annotations
  1. Oct 2026
  2. illiad.lib.unc.edu illiad.lib.unc.edu
    GTMB-2019-0022-ver9-Kamranjam_3P 515..522
    1
    1. ClingenBaseline 25 Oct 2026

      Case#: Patient 9, 4 years old, Iranian

      DiseaseAssertion: MPS1-S (Attenuated)

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.19 µmol/g.h (Normal ranges: 10-50 µmol/g.h)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.903C>G (p.D301E)

      Variant1ClinVarID: 1458511

      Variant1CAID: CA355962528

      Variant2: c.903C>G (p.D301E)

      Variant2ClinVarID: 1458511

      Variant2CAID: CA355962528

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1458511 CAID:CA355962528 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    illiad.lib.unc.edu/remoteauth/NOH/illiad.dll
  3. link.springer.com link.springer.com
    Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations
    1
    1. ClingenBaseline 25 Oct 2026

      Case#: Patient #2 (see Table 2), male, 2 years old (age at diagnosis), 12 years old (age at report)

      DiseaseAssertion: MPS-I

      FamilyInfo: Born from a consanguineous marriage

      CasePresentingHPOs: Cardiomyopathy, scoliosis, macroglossia, failure to thrive, global developmental delay, short stature, skeletal dysplasia, hepatomegaly, splenomegaly (HP:0001638, HP:0002650, HP:0000158, HP:0001508, HP:0001263, HP:0004322, HP:0002652, HP:0002240, HP:0001744)

      CaseHPOFreeText: Normal intelligence, mitral valve thickening

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: α-L-iduronidase 0.5 nmol/ml. The activity of this enzyme is below its reference (1–18.5 nmol/ml).

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.903C>G (p.D301E)

      Variant1ClinVarID: 1458511

      Variant1CAID: CA355962528

      Variant2: c.903C>G (p.D301E)

      Variant2ClinVarID: 1458511

      Variant2CAID: CA355962528

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1458511 CAID:CA355962528 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    link.springer.com/article/10.1007/s11011-019-00434-z
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations
    1
    1. ClingenBaseline 22 Oct 2026

      Case#: Patient 9, 4 years old, Iranian

      DiseaseAssertion: MPS1-S (Attenuated)

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.19 µmol/g.h (Normal ranges: 10-50 µmol/g.h)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.903C>G (p.D301E)

      Variant1ClinVarID: 1458511

      Variant1CAID: CA355962528

      Variant2: c.903C>G (p.D301E)

      Variant2ClinVarID: 1458511

      Variant2CAID: CA355962528

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1458511 CAID:CA355962528 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/31298590/