6 Matching Annotations
  1. Oct 2026
  2. www.sciencedirect.com www.sciencedirect.com
    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    3
    1. ClingenBaseline 25 Oct 2026
      Abnormal

      Case#: No additional case information provided

      DiseaseAssertion: MPSI-H/S

      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.1205G>A (p.W402X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA220498

      Variant2: c.1577T>C (p.L526P)

      Variant2ClinVarID: 567566

      Variant2CAID: CA2802300

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA220498 ClinVarID:567566 CAID:CA2802300 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 24 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.1577T>C (p.p.L526P)

      Variant1ClinVarID: 567566

      Variant1CAID: CA2802300

      Variant2: c.536C>T (p.T179M)

      Variant2ClinVarID: 1455223

      Variant2CAID: CA2801986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:567566 CAID:CA2802300 ClinVarID:1455223 CAID:CA2801986 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 21 Oct 2026
      Abnormal

      Case#: No additional case information provided

      DiseaseAssertion: MPSI-H/S

      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.1205G>A (p.W402X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA220498

      Variant2: c.1577T>C (p.L526P)

      Variant2ClinVarID: 567566

      Variant2CAID: CA2802300

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA220498 ClinVarID:567566 CAID:CA2802300 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347623005073
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I
    1
    1. ClingenBaseline 24 Oct 2026
      3

      Case#: Subject 3, female, in her 20s (age at enrollment)

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002176 (Spinal cord compression)

      CaseHPOFreeText: Disappearance of Hoffmann's reflex

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: Yes - Enzyme replacement therapy with laronidase, did not enroll in extension study

      CaseBMT: N/A

      Variant1: c.1205G>A (p.W402X)

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: c.1577T>C (p.L526P)

      Variant2ClinVarID: 567566

      Variant2CAID: CA2802300

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:567566 CAID:CA2802300 ClinVarID:11908 CAID:CA220498 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC4572891/
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional assessment of IDUA variants of uncertain significance identified by newborn screening
    1
    1. ClingenBaseline 23 Oct 2026
      c.1577T>C

      Case#: Functional assay variant with a clinical significance of having conflicting interpretations.

      DiseaseAssertion: MPS-I

      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.1577T>C (p.L526P)

      Variant1ClinVarID: 567566

      Variant1CAID: CA2802300

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CAID:CA2802300 ClinVarID:567566 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11659309/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I
    1
    1. ClingenBaseline 22 Oct 2026
      33

      Case#: Patient 33 (Table 3)

      DiseaseAssertion: Attenuated naïve MPS 1

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 3 nmol/h/mg per DBS (dried blood spots) determined during NBS. 13.2 DBS protein concentration determined by Immuno-SRM (pmol/L).

      CaseUrineGAGs: N/A

      CaseERT: Yes

      CaseBMT: N/A

      Variant1: c.1577T>C (p.L526P)

      Variant1ClinVarID: 567566

      Variant1CAID: CA2802300

      Variant2: c.1577T>C (p.L526P)

      Variant2ClinVarID: 567566

      Variant2CAID: CA2802300

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:567566 CAID:CA2802300 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

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    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC10387444/