Hypothesis

1Deletion

PatientID: II:2

KindredID: 8

Case: F, 43Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: a 3 generational family found with 5 phenotypically affected members, two of which were confirmed with the exon 1 deletion. This patient and her son were tested to be found with the deletion of exon 1. Her son was found with retinal angiomas at 17Y, pancreatic cysts and epididymal/ovarian cystadenoma at 19Y, and hemangioblastomas at 23Y. Her two sisters and father all had hemangioblastomas; and father also had RCC, however the father and one sister were deceased; and the other sister was not available to provide a DNA sample.

CasePresentingHPOs: HP:0009711; HP:0010797 (retinal capillary hemangioma, hemangioblastoma)

CaseHPOFreeText: patient was found with retinal hemangioblastomas at 35Y and hemangioblastomas at 43Y

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: exon 1 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 1 deletion

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:35 DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:43 ClinVarID:N/A UnregisteredVariant CivicName:Exon1Deletion MutationType:exon_loss_variant ExperimentalAssay Familial FamilyPedigree AssumedRefSeq:NM_000551.3 Mutation:Germline inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

Tags

Annotators

URL