Hypothesis

16 different families

PatientID: VI-III

KindredID: 6

Case: F, 17Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: This kindred includes 3 patients: a father and his two children. The father, 55Y, had bilateral adrenal pheochromocytoma, along with his two children (13Y, 17Y).

CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

CaseHPOFreeText: Patient first presented with adrenal pheochromocytoma at age 9Y0M and was diagnosed with VHL type 2C (see table 2).

CaseNotHPOs: HP:0001737; HP:000107; HP:0005584; HP:0002668; HP:0030405 (pancreatic cysts; renal cyst; renal cell carcinoma; paraganglioma; pancreatic endocrine tumor)

CaseNotHPOFreeText: Patient negative for pancreatic cysts, pancreatic endocrine tumors, renal cell carcinoma, renal cysts, and paraganglioma.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.L188del (c.562_564del)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2573320489, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320489

gnomAD: N/A

VariantEvidence: N/A

MutationType: inframe_deletion

CivicName: L188del (c.562_564del)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline MutationType:inframe_deletion RefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma CivicName:L188del(c.562_564del) cDNAposition:562 ProteinPosition:188 ClinVarID:N/A CAID:CA2573320489 Familial AgeOfPresentation:VHL:9 AgeOfPresentation:adrenalpheochromocytoma:9 AminoAcidChange:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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