PatientID: 5
KindredID: 5
Case: F, 50Y0M, Ethnicity Unknown
DiseaseAssertion: assumed VHL
FamilyInfo: Positive family history. Her mother suffered from blindness of one eye potentially due to retinal angiomatosis and was operated for a left adrenal pheochromocytoma. Her uncle died due to renal cell carcinoma and had spinal hemangioblastomas. All three of her sons are carriers of the mutation, one of whom was operated for a right adrenal pheochromocytoma at age 24 and a left adrenal pheochromocytoma at age 32. Screening of the 27-yr-old son revealed asymptomatic retinal and spinal hemangioblastomas.
CohortInfo: An international consortium registered patients with head and neck paragangliomas with VHL or RET gene mutations.
CasePresentingHPOs: HP:0002668; HP:0006748; HP:0009711; HP:0009713 (paraganglioma, adrenal pheochromocytoma, retinal capillary hemangioma, spinal hemangioblastoma)
CaseHPOFreeText: At 37Y she noted a mass at the left side of her neck. MRI disclosed a 3-cm carotid body tumor (paraganglioma). At age 50, the patient was operated for a left adrenal pheochromocytoma. Clinical screening for VHL showed asymptomatic retinal and spinal hemangioblastomas.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: RET
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.R107H (c.320G>A)
LegacyVariant: p.R107H
CaseProblemVariantFreeText: As the publication only provides the p., the mutation was deduced to p.R107H (c.320G>A)
ClinVarID: 223184 https://www.ncbi.nlm.nih.gov/clinvar/variation/223184/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: R107H (c.320G>A)
MultipleGeneVariants: N/A