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  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. Vibhor 09 Jul 2026

      GroupID/ KindredID: F28

      Case: Sex unknown, 23Y0M, Spanish

      DiseaseAssertion: assumed VHL

      FamilyInfo: familial antecedents found; unknown of any additional features of index case relatives

      CasePresentingHPOs: HP:0000107; HP:0009711; HP:0006880; HP:0006770; HP:0002666 (renal cysts, retinal capillary hemangioma, cerebellar hemangioblastoma, clear cell renal cell carcinoma, pheochromocytoma)

      CaseHPOFreeText: unilateral pheo, bilateral ccRCC and multiple lesions were found with the patient’s renal cysts. Age of onset is 23Y0M.

      CaseNotHPOs: HP:0001737 (pancreatic cysts)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: rearrangement (unspecified)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Southern blot positive

      MutationType: rearrangement_region

      CivicName: Rearrangement

      MultipleGeneVariants: N/A

      DiseaseEntity:renalcyst DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:pheochromocytoma Ethnicity:Spanish Mutation:Germline InheritancePattern:AutosomalDominant UnregisteredVariant CAID:N/A ClinVarID:N/A CivicName:rearrangement MutationType:rearrangement_region Familial ExperimentalAssay RefSeq:AF010238.1 ClinGen VHL hgnc_imputed:assumed_refseq_tag
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309