2 Matching Annotations
  1. Last 7 days
  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
    1
    1. 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. journals.tubitak.gov.tr journals.tubitak.gov.tr
    Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I
    1
    1. ClingenBaseline 21 Oct 2026

      Case#: Patient 1, Turkish

      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.1A>C (p.M1L)

      Variant1ClinVarID: 550458

      Variant1CAID: CA355945204

      Variant2: c.1A>C (p.M1L)

      Variant2ClinVarID: 550458

      Variant2CAID: CA355945204

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550458 CAID:CA355945204 inferred_gene_hgnc:714 inferred_gene_source:ClinVar IDUA variant annotation
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    journals.tubitak.gov.tr/cgi/viewcontent.cgi