Hypothesis

16 different families

PatientID: X-I

KindredID: 10

Case: M, 28Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: No family history reported.

CasePresentingHPOs: HP:0010797; HP:0006880; HP:0009711; HP:0009713; HP:0001737 (hemangioblastoma, cerebellar hemangioblastoma, retinal capillary hemangioma, spinal hemangioblastoma, pancreatic cyst)

CaseHPOFreeText: Patient presented with CNS, spinal, retinal and cerebellar hemangioblastoma, as well as a pancreatic cyst at age 28Y0M and was diagnosed with VHL type 2A (see table 2).

CaseNotHPOs: HP:0000107; HP:0005584; HP:0006748; HP:0002668; HP:0030405 (renal cyst; renal cell carcinoma; adrenal pheochromocytoma; paraganglioma; pancreatic endocrine tumor)

CaseNotHPOFreeText: Patient negative for renal cyst, renal cell carcinoma, adrenal pheochromocytoma, paraganglioma, and pancreatic endocrine tumor.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: partial deletion (<1kb)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: partial_deletion

CivicName: NULL (partial deletion)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:deletion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:pancreaticcysts cDNAPosition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A UnregisteredVariant NoFamilyInfo CivicName:Partialdeletionof0.8kb inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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