3 Matching Annotations
  1. Jul 2026
  2. jmg.bmj.com jmg.bmj.com
    Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene
    1
    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
  3. link.springer.com link.springer.com
    Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene
    1
    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
  4. Jul 2021
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma
    1
    1. Safa_Ansar 27 Jul 2021

      PatientID: None

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: The proband was part of a cohort of apparently sporadic cases of pheochromocytoma/ paraganglioma, implying this individual had no family history of VHL disease or pheochromocytoma.

      CasePresentingHPOs: HP:0006748 (Adrenal Pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002668 (Paraganglioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHC, and SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: ex. p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: ex. 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161Q(c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN ClinVarID:182983 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R161Q(c.482G>A) NonFamilial
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    pubmed.ncbi.nlm.nih.gov/19343621/