1/F 16 Yes 68 45 Hypersensitive* Polyclonal† 376G>T/wt
PatientID: 1
KindredID: 1
Case: F, 16Y0M, Ukrainian
DiseaseAssertion: Assumed VHL
FamilyInfo: Her brother (patient 2) also had polycythemia and was heterozygeous for the mutation. Mutation inherited from father. The father was not polycythemic, but his BFU-Es were hypersensitive to Epo.
CasePresentingHPOs: HP:0001901, HP:0005954, HP:0000077, HP:0001028 (polycythemia, pulmonary capillary hemangiomatosis, abnormality of the kidney, hemangioma )
CaseHPOFreeText: Patient had a hematocrit of 68%, erythropoietin level of 45 mIU/mL, and had hypersensitivity of erythroid progenitors to Epo. She was diagnosed with polycythemia of unknown duration; at the age of 10 years, a pulmonary angioma was found and treated by a coil embolization. She continued to be polycythemic. At the age of 15 years, an abdominal computed tomography (CT) scan revealed a left renal mass, which on nephrectomy was determined to be a subcapsular hemangioma; there was no evidence of an angioma elsewhere. One year after surgery, she still remains polycythemic but has no evidence of a new or recurrent tumor.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.D126Y(c.376G>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 2230 https://www.ncbi.nlm.nih.gov/clinvar/variation/2230/
CAID: CA020319 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.376G%3ET
gnomAD: N/A
VariantEvidence: Patient was heterozygous for the mutation.
MutationType: missense_variant;transversion
CivicName: D126Y(c.376G>T)
MultipleGeneVariants: N/A