Hypothesis

The exon 1 deletion c.254_283del30, p.Leu85_Glu94del was detected in a girl (patient #1) with manifestation of bilateral rHB and single vertebral HB at the age of 14 years (VHL type 1).

PatientID: 1

KindredID: 1

Case: F, 14Y0M, Bulgarian

DiseaseAssertion: VHL

FamilyInfo: Negative family history for VHL

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

CaseHPOFreeText: retinal capillary hemangioma and a single vertebral hemangioblastoma (at C6) were found; follow up showed bilateral retinal hemangioma (operated on)

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.L85_E94del (c.254_283del30bp)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2499306645 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499306645

gnomAD: N/A

VariantEvidence: N/A

MutationType: inframe_deletion

CivicName: L85_E94del (c.254_283del30bp)

MultipleGeneVariants: SNP c.870A>G in CCND1 gene (A>G)

Ethnicity:Bulgarian DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:hemangioblastoma:14 DiseaseEntity:hemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:14 Mutation:Germline DiseaseEntity:VHL RefSeq:NM_000551.3 CAID:CA2499306645 ClinVarID:N/A NonFamilial MutationType:inframe_deletion cDNAposition:254 CivicName:L85_E94del(c.254_283del30bp) ProteinPosition:85 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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