His father (Patient II‐3) died of advanced RCCC in the previous year
PatientID: II-3
KindredID: 1
Case: M, Age Unknown, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Both of the patient’s brothers (Patient II-4 and II-1), the patient’s sister (II-5), and the patient’s son (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 sister (Patient II‐5) was deceased and had an undetermined mutation. Patient II‐5 died of a ruptured CH. The patient’s parents (Patient I-1 and I-2) were also deceased from other causes. The patient’s grandson (Patient IV‐1) was healthy and did not carry the mutation.
CasePresentingHPOs: HP:0006770 (Renal clear cell carcinoma)
CaseHPOFreeText: The patient died from advanced RCCC.
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