Hypothesis

MLPA showed an exon 2 deletion in proband 6

PatientID: 6

KindredID: 6

Case: 30Y0M, Sex unknown, Chinese

DiseaseAssertion: VHL

FamilyInfo: Their sister had the same deletion and presented with VHL disease type 1, and first presented with a CNS hemangioblastoma at age 21. A second sister had no mutation and was asymptomatic, and the proband's daughter had the same deletion, but was asymptomatic at the time of the study.

CasePresentingHPOs: HP:0009715; HP:0010797; HP:0005584 (Papillary cystadenoma of the epididymis, hemangioblastoma, renal cell carcinoma)

CaseHPOFreeText: CNS hemangioblastoma first presenting at age 15Y and RCC at age 22Y and EC (papillary cystadenoma of the epididymis) at 30Y

CaseNotHPOs: HP:0002666 (pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: Exon 2 deletion

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: exon_loss_variant

CivicName: Exon 2 deletion

MultipleGeneVariants: N/A

DiseaseEntity:VHL AgeOfPresentation:hemangioblastoma:15 DiseaseEntity:hemangioblastoma AgeOfPresentation:renalcellcarcinoma:22 DiseaseEntity:renalcellcarcinoma DiseaseEntity:papillarycystadenomaoftheepididymis AgeOfPresentation:papillarycystadenomaoftheepididymis:30 Ethnicity:Chinese Mutation:Germline RefSeq:NM_000551.2 MutationType:exon_loss_variant MutationType:deletion CivicName:Exon2deletion ExperimentalAssay Familial UnregisteredVariant ClinVarID:N/A InheritancePattern:AutosomalDominant inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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