PatientID: None

KindredID: 1

Case: F, 9Y0M, Ethnicity Unknown

DiseaseAssertion: Asymptomatic

FamilyInfo: This patient had an older brother who at 7-years-old, presented with multiple retinal haemangiomas. At the age of 9, he underwent a left adrenalectomy for a phaeochromocytoma. At the age of 13, a 9 mm solid lesion consistent with a pNET. This patient also had a renal cell carcinoma. They also had a 12-year old younger brother who had a retinal hemangioma. The patients father was diagnosed with VHL at 31 years-old and had multiple cerebellar haemangioblastomas, retinal angiomas, a phaeochromocytoma, a ccRCC and a small pNET. Pedigree: See Figure 1.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0002666, HP:0005584, HP:0009711, HP:0030405 (pheochromocytoma, renal cell carcinoma, Retinal capillary hemangioma, Pancreatic endocrine tumor)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Arg120* (c.358A>T)

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA351753732 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA351753732

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: R120*(c.358A>T)

MultipleGeneVariants: N/A