PatientID: II:1 (the proband)

KindredID: 1

Case: F, 32Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: Case III:1 (the proband’s son) was an asymptomatic 6-year-old male, who was found to have a small hemangioblastoma in the distant peripheral retina of his right eye. Case III:2 (the proband’s daughter) was a 12 year old female who complained of a curtain coming across the vision in her left eye during the screening examination. Fundus examinations revealed a small hemangioblastoma in the infratemporal region of the peripheral retina in her right eye. A sizeable hemangioblastoma with 2.5 papilla diameters and prominant feeder vessels were detected in the inferior peripheral retina of her left eye. Case I:2 (the proband’s mother) had blindness in one eye and died of renal carcinoma, genetic testing was not preformed on this patient. Pedigree: see Figure 1.

CasePresentingHPOs: HP:0006880, HP:0009711 (Cerebellar hemangioblastoma, retinal capillary hemangioma)

CaseHPOFreeText: Fundus examinations showed several retinal hemangioblastomas in the temporal area of the left eye.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.W117R (c.349T>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351753664 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.349T%3EA

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_transversion

CivicName: W117R (c.349T>A)

MultipleGeneVariants: N/A