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    Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene
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    1. Vibhor 09 Jul 2026
      In four families, partial deletions of one or more exons were detected by Southern blot analysis

      PatientID: unknown (brother)

      KindredID: A

      Case: M (deceased), Age unknown, Turkish

      DiseaseAssertion: assumed VHL

      FamilyInfo: 5 family members are grouped with this deletion (ages 16-37Y; mean 31Y). VHL was clinically diagnosed in, at minimum, the proband. See Fig. 2 for family pedigree. This patient and his one brother were not tested for the DNA deletion however it is assumed by the authors due to the segregation observed.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711; HP:0002666; HP:0005584 (retinal capillary hemangioma; pheochromocytoma; renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Deletion of exons 1 and 2

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: not tested for the DNA deletion however it is assumed by the authors due to the segregation observed.

      MutationType: exon_loss_variant

      CivicName: exon 1-2 deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Turkish DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 UnregisteredVariant ClinVarID:N/A MutationType:exon_loss_variant CivicName:Exon1-2Deletion Familial FamilyPedigree ClinGen VHL hgnc_imputed:assumed_refseq_tag
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    link.springer.com/article/10.1007/s004390000265