2 Matching Annotations
  1. Last 7 days
  2. onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca
    von Hippel-Lindau development in children and adolescents
    2
    1. ClingenBaseline 23 Oct 2026
      III 10 26 6 PC (15 years) 1 retinal hb (16 years) T c.1-?_340 + ?del

      PatientID: III

      KindredID: 17

      Case: Sex Unknown, 26Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: 2 other family members were found to have this VHL variant. Patient 17-I was asymptomatic. Patient 17-II presented with CNS hemangioblastoma (8Y).

      CasePresentingHPOs: HP:0009711; HP:0001737 (Retinal capillary hemangioma, Pancreatic cysts)

      CaseHPOFreeText: Diagnosed with VHL at age 10Y. Presented with 6 pancreatic cysts (15Y) and retinal hemangioblastoma (16Y). Age at the end of study: 26Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 1 Deletion (c.1-?_340+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 1 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts AgeOfPresentation:retinalcapillaryhemangioma:16 AgeOfPresentation:pancreaticcysts:15 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A MutationType:exon_loss_variant UnregisteredVariant CivicName:Exon1Deletion Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026
      12 I 5 21 5 retinal hb (5 + 13 + 14 years) 6 CNS hb (15 + 17 years) 3 PC (15 years) T c.l-?_463 + ?del

      PatientID: I

      KindredID: 12

      Case: Sex Unknown, 21Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711; HP:0010797; HP:0001737 (Retinal capillary hemangioma, Hemangioblastoma, Pancreatic cysts)

      CaseHPOFreeText: Diagnosed with VHL at age 5Y. Presented with 5 retinal hemangioblastoma (5Y, 13Y, 14Y) 6 CNS hemangioblastoma (15Y, 17Y) 3 pancreatic cysts (15Y). Age at the end of study: 21Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Exon 1-2 Deletion (c.1-?_463+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 1-2 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeOfPresentation:retinalcapillaryhemangioma:5 AgeOfPresentation:retinalcapillaryhemangioma:13 AgeOfPresentation:retinalcapillaryhemangioma:14 AgeOfPresentation:hemangioblastoma:15 AgeOfPresentation:hemangioblastoma:17 AgeOfPresentation:pancreaticcysts:15 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A MutationType:exon_loss_variant UnregisteredVariant CivicName:Exon1-2Deletion NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca/doi/full/10.1002/ajmg.a.38324