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    Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene
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    1. Vibhor 09 Jul 2026
      Complete deletion

      GroupID/ KindredID: 28

      PatientID: II

      Case: 24Y0M, Sex unknown, Polish

      DiseaseAssertion: VHL

      FamilyInfo: Family 28 consisted of 4 members; one relative (age 27Y) was found with multiple cerebellar HABs at 25Y, and multiple spinal HABs, another (40Y) diagnosed at 30Y with multiple cerebellar HABs, and multiple spinal HABs, and a final relative (62Y), diagnosed with a single HAB.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: Patient was diagnosed with a single cerebellar HAB at 24Y

      GroupNotHPOs: HP:0009713; HP:0009711; HP:0005584 (spinal hemangioblastoma, retinal capillary hemangioma; renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: complete deletion of VHL gene

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Haplotype analysis information in Table 3

      MutationType: deletion

      CivicName: deletion

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:24 Mutation:Germline Ethnicity:Polish AssumedRefSeq:NM_000551.3 ExperimentalAssay Familial InheritancePattern:AutosomalDominant CivicName:DELETION MutationType:deletion UnregisteredVariant ClinVarID:N/A ClinGen VHL hgnc_imputed:assumed_refseq_tag
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    jmg.bmj.com/content/39/7/e38