Hypothesis

A 27-year-old man

PatientID: None

KindredID: 1

Case: M, 27Y0M, Ethnicity Unknown

DiseaseAssertion: Assumed VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0009713; HP:0000479; HP:0001737 (Spinal hemangioblastoma, renal cysts, pancreatic cysts)

CaseHPOFreeText: The patient, a 27Y male, presented with severe back pain, paraplegia and urinary retention, and numbness below his waist. Upon investigation, a cystic lesion with enhancing nodules expanding the cervical cord from C2 to C3 and an irregular enhancing mass expanding from T6 to T9 associated with extensive edema. Further investigation found multiple cystic lesions scattered throughout the pancreas and both kidneys. The patient’s neurological symptoms resolved after tumour removal.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: T105P(c.313A>C)

LegacyVariant: N/A

ClinVarID: 496055, https://www.ncbi.nlm.nih.gov/clinvar/variation/496055/

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: T105P(c.313A>C)

MultipleGeneVariants: N/A

DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcyst AgeOfPresentation:hemangioblastoma:27 AgeOfPresentation:renalcyst:27 AgeOfPresentation:pancreaticcyst:27 Mutation:Germline RefSeq:N/A AssumedRefSeq:NM_000551.3 cDNAposition:313 ProteinPosition:105 MutationType:missense_variant;transversion AminoAcidChange:THRtoPRO ClinVarID:Yes ClinVarID:496055 CivicName:T105P(c.313A>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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