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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation
    1
    1. ClingenBaseline 30 Oct 2026
      PMID: 20567917

      PatientID: 1

      KindredID: 1

      Case: F, 24Y0M, Brazilian

      DiseaseAssertion: VHL

      FamilyInfo: VHL type 1 family. No family history of VHL disease. Parents were not available for testing. However, this paper reports that this proband belongs to a different family from that reported by Rocha et al. (PMID: 12624160) as Family 1, with 5 individuals.

      CasePresentingHPOs: HP:0010797; HP:0000107; HP:0001737 (hemangioblastoma; renal cysts; pancreatic cysts)

      CaseHPOFreeText: hemangioblastoma diagnosed at 23Y; and renal and pancreatic cysts at 24Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 12624160; 32179488

      SupplementalData: Yes

      Variant: p.F76del (c.226_228delTTC)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: NM_000551.3:c.226_228delTTC automaps to NM_000551.3:c.227_229delTCT due to redundancy

      ClinVarID: N/A

      CAID: CA357012 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.226_228delTTC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.226_228delTTC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Ethnicity:Brazilian DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts AgeOfPresentation:hemangioblastoma:23 AgeOfPresentation:renalcyst:24 AgeOfPresentation:pancreaticcysts:24 Mutation:Germline RefSeq:NM_000551.2 Familial FamilyPedigree cDNAposition:226 ProteinPosition:76 MutationType:inframe_deletion CAID:CA357012 ClinVarID:N/A SupplementalData cDNAposition:228 CivicName:F76del(c.226_228delTTC) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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