4 Matching Annotations
  1. Oct 2026
  2. 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
    2
    1. ClingenBaseline 25 Oct 2026

      Case#: Patient #1 (see Table 2), male, 6 months old (age at diagnosis), 7 years old (age at report)

      DiseaseAssertion: MPS I

      FamilyInfo: Born from a consanguineous marriage

      CasePresentingHPOs: Scoliosis, developmental delay, short stature, macrocephaly, coarse facial features, hepatomegaly (HP:0002650, HP:0001263, HP:0004322, HP:0000256, HP:0000256, HP:0002240)

      CaseHPOFreeText: Irregular chest, respiratory problems

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: α-L-iduronidase 1.18 nmol/spot. The activity of this enzyme is below its reference (450–2600 nmol/spot).

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.469T>C (p.S157P)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355961573

      Variant2: c.469T>C (p.S157P)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355961573

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA355961573 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026

      Case#: Patient #3 (see Table 2), male, 15 months old (age at diagnosis), 5 years old (age at report).

      DiseaseAssertion: MPS-I

      FamilyInfo: Born to a consanguineous family

      CasePresentingHPOs: Macrocephaly, corneal clouding, hearing loss (HP:0000256, HP:0007957, HP:0000365)

      CaseHPOFreeText: Normal intelligence

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: α-L-iduronidase 15.6 pmol/spot. The activity of this enzyme is below its reference (200–2600 pmol/spot).

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1A>C (p.M1L)

      Variant1ClinVarID: 550458

      Variant1CAID: CA355945204

      Variant2: c.469T>C (p.S157P)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355961573

      AdditionalVariants: N/A

      ParentalGenotype: Variant c.1A>C was paternally inherited and variant c.469T>C was maternally inherited.

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550458 CAID:CA355945204 CAID:CA355961573 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
  3. 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 24 Oct 2026

      Case#: Patient 1, 9 years old, Iranian

      DiseaseAssertion: MPSI-H (Severe)

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.12 µmol/g.h (Normal ranges: 10-50 µmol/g.h)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.469T>C (p.S157P)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355961573

      Variant2: c.469T>C (p.S157P)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355961573

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA355961573 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/31298590/
  4. illiad.lib.unc.edu illiad.lib.unc.edu
    GTMB-2019-0022-ver9-Kamranjam_3P 515..522
    1
    1. ClingenBaseline 21 Oct 2026

      Case#: Patient 1, 9 years old, Iranian

      DiseaseAssertion: MPSI-H (Severe)

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.12 µmol/g.h (Normal ranges: 10-50 µmol/g.h)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.469T>C (p.S157P)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355961573

      Variant2: c.469T>C (p.S157P)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355961573

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA355961573 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    illiad.lib.unc.edu/remoteauth/NOH/illiad.dll