his aunt (Patient II‐5) died of a ruptured CH
PatientID: II-5
KindredID: 1
Case: F, Age Unknown, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: All three of the patient’s brothers (Patient II-4, II-3, and II-1) and the patient’s nephew (III-3) were clinically diagnosed with VHL disease. Patient II-1 presented with RCCC at age 33 and CH at age 41. He carried the mutation NM_000551.3:c.269A>T. Patient II-4 presented with RCCC at age 53, and carried the same mutation. Patient III-3 presented with CH and carried the same mutation. The patient’s deceased brother (Patient II‐3) died of advanced RCCC and had an undetermined mutation. The patient’s parents (Patient I-1 and I-2) were also deceased from other causes. The patient’s grand-nephew (Patient IV‐1) was healthy and did not carry the mutation.
CasePresentingHPOs: HP:0006880 (Cerebellar hemangioblastoma)
CaseHPOFreeText: The patient died of a ruptured cerebellar hemangioblastoma.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: N/A
LegacyVariant: N/A
ClinVarID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: N/A
CivicName:N/A
MultipleGeneVariants: N/A