Table 1

Summary of results

PatientAgeClinical featuresFamily historyMutationPreviously reported
D2444Solitary cerebellarP81S21, 30, 35
B129Solitary cerebellarSubsequent pancreatic cystsdel 582 GACACACNo
B236Solitary cerebellarDeletionNA
B540Cerebellar & medullaryDeletionNA
B644Multiple spinalDeletionNA
  • Patient: patient's ID; Age: age at diagnosis, in years; HAB: type and origin of haemangioblastoma; Other: further VHL associated manifestations after clinical screening; Family history: further VHL associated manifestations in family members of proband; Mutation: VHL germline mutation; Previously reported: whether the mutation has been published (references); NA: not applicable.