PatientID: 12

KindredID: 6

Case: M, 12Y0M, Ethnicity Unknown

DiseaseAssertion: Hemangioblastom

FamilyInfo: A family pedigree is provided in figure 1. The patient’s father carried the same mutation as patient 12, but the father’s occurred de novo, as neither of the father’s parents carried the mutation. The patient’s father had cerebellar, retinal and bulbar hemangioblastomas, and retinal detachment. The patient’s 14-year-old brother (patient 11) was asymptomatic.

CasePresentingHPOs: HP:0010797 (hemangioblastoma)

CaseHPOFreeText: Patient had a CNS hemangioblastoma.

CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

CaseNotHPOFreeText: Patient did not have Retinal capillary hemangiomas.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: c.341+1_341–1(463*1_?)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: delins

CivicName: Null (c.341+1_341–1)

MultipleGeneVariants: N/A