25 Matching Annotations
  1. Oct 2026
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
    9
    1. ClingenBaseline 25 Oct 2026
      7

      Case#: Patient 7 (see Table 2), 33 weeks, 1 day (Gestational age)

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.44 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 ClinVarID:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 25 Oct 2026
      9

      Case#: Patient 9 (see Table 2), 37 weeks, 2 days (Gestational age)

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Upper respiratory tract involvement

      CaseNotHPOs: Inguinal hernia (HP:0000023)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA:356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 ClinVarID:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 25 Oct 2026
      21

      Case#: Patient 21 (see Table 2), 41 weeks, 2 days (Gestational age)

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: Inguinal hernia (HP:0000023)

      CaseNotHPOFreeText: Upper respiratory tract involvement

      CaseEnzymeAssay: 0.35 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.943G>T (p.D315Y)

      Variant2ClinVarID: N/A

      Variant2CAID: CA:355962740

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 CAID:CA355962740 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    4. ClingenBaseline 25 Oct 2026
      13

      Case#: Patient 13 (see Table 2), 38 weeks, 3 days (Gestational age)

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Upper respiratory tract involvement

      CaseNotHPOs: Inguinal hernia (HP:0000023)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.43 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

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

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA:356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:222995 DiseaseEntity:MPS1 CAID:CA356986 ClinVarID:11908 CAID:CA220498 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    5. ClingenBaseline 24 Oct 2026
      11

      Case#: Patient 11 (see Table 2), 33 weeks (Gestational age)

      DiseaseAssertion: MPS1-H

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA:356986

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA:356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    6. ClingenBaseline 23 Oct 2026
      12

      Case#: Patient 12 (see Table 2), 40 weeks (Gestational age)

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Upper respiratory tract involvement

      CaseNotHPOs: Inguinal hernia (HP:0000023)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA:356986

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA:356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    7. ClingenBaseline 22 Oct 2026
      6

      Case#: Patient 6 (see Table 2), 33 weeks, 6 days (Gestational age)

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.47 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT:N/A

      CaseBMT: N/A

      Variant1: c.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 ClinVarID:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    8. ClingenBaseline 22 Oct 2026
      8

      Case#: Patient 8 (see Table 2), 38 weeks (Gestational age)

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Upper respiratory tract involvement

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.58 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.653T>C (P.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 ClinVarID:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    9. ClingenBaseline 21 Oct 2026
      10

      Case#: Patient 10 (see Table 2), Gestational age not available

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Upper respiratory tract involvement

      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.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA:356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 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/PMC3710214/
  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: L218P

      Variant1ClinVarID: 222995

      Variant1CAID:CA356986

      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:222995 CAID:CA356986 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC4954775/
  4. watermark.silverchair.com watermark.silverchair.com
    3-6-861.pdf
    2
    1. ClingenBaseline 25 Oct 2026

      Case#: No additional case information provided.

      DiseaseAssertion: MPS1-H

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: In the paper an additional variant is listed on the same allele as "G387 + 6c->t". It seems that the current nomenclature for this variant is "c.299+6C>T". This variant is classified as benign by the LD VCEP.

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 25 Oct 2026
      1

      Case#: No additional case information provided.

      DiseaseAssertion: MPS1-H

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: In the paper an additional variant is listed on the same allele as "G387 + 6c->t". It seems that the current nomenclature for this variant is "c.299+6C>T". This variant is classified as benign by the LD VCEP.

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    watermark.silverchair.com/3-6-861.pdf
  5. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
    1
    1. ClingenBaseline 25 Oct 2026
      A second patient

      Case#: Second patient

      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.299+6C>T

      Variant1ClinVarID: 92640

      Variant1CAID: CA145880

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: c.1205G>A (p.W402X), ClinVarID: 11908, CAID:CA220498

      ParentalGenotype: Parental studies demonstrated that the c.299+6C>T and p.L218P changes are in cis.

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:92640 CAID:CA145880 ClinVarID:222995 CAID:CA356986 ClinVarID:11908 CAID:CA220498 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s10545-012-9533-7
  6. watermark.silverchair.com watermark.silverchair.com
    3-6-861.pdf
    6
    1. ClingenBaseline 25 Oct 2026

      Case#: Patient is from The Netherlands

      DiseaseAssertion: MPSI-H

      FamilyInfo: Patient has consanguinity between parents.

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 24 Oct 2026
      1

      Case#: Patient is from The Netherlands

      DiseaseAssertion: MPSI-H

      FamilyInfo: Patient has consanguinity between parents.

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 24 Oct 2026

      Case#: Patient is from The Netherlands

      DiseaseAssertion: MPSI-H

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.1205G>A (p.W402X)

      Variant2ClinVarID: 11908

      Variant2CAID: CA220498

      AdditionalVariants: G387+6C>T on same allele

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA ClinVarID:222995 CAID:CA356986 ClinVarID:11908 CAID:CA220498 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    4. ClingenBaseline 23 Oct 2026
      1

      Case#: Patient is from The Netherlands

      DiseaseAssertion: MPSI-H

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.1205G>A (p.W402X)

      Variant2ClinVarID: 11908

      Variant2CAID: CA220498

      AdditionalVariants: G387+6C>T on same allele

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 CAID:CA220498 ClinVarID:11908 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    5. ClingenBaseline 21 Oct 2026

      Case#: Three patients are from The Netherlands

      DiseaseAssertion: MPSI-H

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.208C>T (p.Q70X)

      Variant2ClinVarID: 11909

      Variant2CAID: CA204563

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      ClinVarID:222995 CAID:CA356986 ClinVarID:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    6. ClingenBaseline 21 Oct 2026
      3

      Case#: Three patients are from The Netherlands

      DiseaseAssertion: MPSI-H

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.208C>T (p.Q70X)

      Variant2ClinVarID: 11909

      Variant2CAID: CA204563

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 CAID:CA356986 ClinVarID:222995 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    watermark.silverchair.com/3-6-861.pdf
  7. 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 24 Oct 2026
      c.653T>C

      Case#: Functional assay variant with a clinical significance of pathogenic.

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CAID:CA356986 ClinVarID:222995 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC11659309/
  8. www.sciencedirect.com www.sciencedirect.com
    Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System
    1
    1. ClingenBaseline 23 Oct 2026
      1/f

      Case#: Patient 1, female, 7.3 months (age at diagnosis), 14.1 months (age at HSCT), 7 MRI + neuropsychological observations over the course of 17 years.

      DiseaseAssertion: MPS-1H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 52.6 nmol/h/mg (Normal values: 11-43 nmol/h/mg)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: Yes

      Variant1: c.159C>A (p.C53X)

      Variant1ClinVarID: 1458768

      Variant1CAID: CA355945972

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      ClinVarID:1458768 CAID:CA355945972 ClinVarID:222995 CAID:CA356986 Gene:IDUA CaseInfo DiseaseEntity:MPS1 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347621008945
  9. www.sciencedirect.com www.sciencedirect.com
    Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
    1
    1. ClingenBaseline 22 Oct 2026
      Hurler

      Case#: 0.6% residual activity at 37 °C

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 1.6 ± 0.2 nmol/mg/h IDUA activity at 37 °C

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.653T>C (p.L238Q)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.653T>C (p.L238Q)

      ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S1096719213001820
  10. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients
    3
    1. ClingenBaseline 21 Oct 2026
      1

      Case#: Patient is from The Netherlands

      DiseaseAssertion: MPSI-H

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.1205G>A (p.W402X)

      Variant2ClinVarID: 11908

      Variant2CAID: CA220498

      AdditionalVariants: G387+6C>T on same allele

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 CAID:CA220498 ClinVarID:11908 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026
      3

      Case#: Three patients are from The Netherlands

      DiseaseAssertion: MPSI-H

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.208C>T (p.Q70X)

      Variant2ClinVarID: 11909

      Variant2CAID: CA204563

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 CAID:CA356986 ClinVarID:222995 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 21 Oct 2026
      1

      Case#: Patient is from The Netherlands

      DiseaseAssertion: MPSI-H

      FamilyInfo: Patient has consanguinity between parents.

      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.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.653T>C (p.L218P)

      Variant2ClinVarID: 222995

      Variant2CAID: CA356986

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/7951228/