The study assessed the long-term prognosis of VHL and non-VHL patients among 110 consecutive patients with haemangioblastoma (HB) of the CNS treated between 1953 and 1993 at one neurosurgical unit. 14 patients had VHL disease, but only the genotype of the patients was only described for case 8 (NM_000551.3:c.278G>C) and 11 (NM_000551.3:c.293A>G). One of these two patients had pheochromocytoma in a family member, but it is unclear which patient. Case 8 had a germline p.Gly93Ala mutation. Genotyping methods included PCR and direct sequencing. Additional phenotypes and family history were not provided on an individual level for VHL patients.

PatientID: Case 8

KindredID: 8

Case: Gender Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0006880 (Cerebellar hemangioblastoma)

CaseHPOFreeText: No individual phenotypic information was given.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.G93A(c.278G>C)

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA351750780, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA351750780

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: G93A(c.278G>C)

MultipleGeneVariants: N/A