Her father, who had diabetes mellitus requiring insulin therapy, underwent brain surgery twice and was diagnosed with brain hemangioblastoma, which was his cause of death
PatientID: II-4
KindredID: 1
Case: M, Age Unknown (deceased), Ethnicity Unknown
DiseaseAssertion: hemangioblastoma
FamilyInfo: His family members had features apparently related to VHL disease. His mother was troubled with severe headache during her lifetime, though the cause of death was unclear. His son was diagnosed with brain hemangioblastoma, and his daughter had various VHL phenotypes. His daughter and son were tested with the same mutation, and so it was assumed that he did too
CasePresentingHPOs: HP:0010797 (hemangioblastoma)
CaseHPOFreeText: He had diabetes mellitus requiring insulin therapy, underwent brain surgery twice and was diagnosed with brain hemangioblastoma, which was his cause of death
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.Y98Tfs*61 (c.291delC) [assumed]
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA432420512 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.291delC
gnomAD: N/A
VariantEvidence: N/A
MutationType: minus_1_frameshift_variant
CivicName: Y98fs (c.291delC)
MultipleGeneVariants: N/A