Proband presented at 10 years of age with a cerebellar haemangioblastoma and pancreatic lesions, detected by symptom. She was subsequently found to carry a c.408delT pathogenic variant of the VHL gene.
PatientID: 1
KindredID: 5
Case: F, 13Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Positive. The patient's mother (4) also carried this mutation and had a hemangioblastoma. The proband's aunt (5) was confirmed to have the mutation and had VHL presentations. The cousin (8) had the mutation but was asymptomatic. The grandfather (13) was inferred to have the mutation and had a hemangioblastoma. See Figure 2a for family pedigree.
CohortInfo: 20 unrelated VHL families from an ethnically diverse cohort containing both affected and unaffected individuals.
CasePresentingHPOs: HP:0010797, HP:0001732 (hemangioblastoma, abnormality of the pancreas)
CaseHPOFreeText: The patient presented with a hemangioblastoma and abnormality of the pancreas at age 10.
CaseNotHPOs: HP:0009711, HP:0005584, HP:0002666, HP:0000077 (retinal capillary hemangioma, renal cell carcinoma, pheochromocytoma, abnormality of the kidney)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: 31368132
SupplementalData: Supplementary file 1.
Variant: p.F136Lfs*23 (c.408delT)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVarID: 43601 https://www.ncbi.nlm.nih.gov/clinvar/variation/43601/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: minus_1_frameshift_variant
CivicName: F136Lfs*23 (c.408delT)
MultipleGeneVariants: N/A