ClinGen Dosage Sensitivity Curation Page

VHL

  • Curation Status: Complete

Location Information

  • 3p25.3
  • GRCh37/hg19 chr3: 10,183,319-10,195,354
  • View: NCBI | Ensembl | UCSC

GRCh37/hg19 chr3: 10,183,319-10,195,354 (NC_000003.11)

Evidence for haploinsufficiency phenotype
PubMed ID Description
20151405 2010 review of the molecular genetics of the VHL gene, including the mutational spectrum and associated phenotypes. Analysis of 945 VHL families from numerous sources revealed partial and complete VHL deletions account for 11% of all VHL mutations in their cohort.
  • Haploinsufficiency phenotype comments: Homozygous or trans-heterozygous germline VHL mutations can lead to the autosomal recessive condition, Familial Erythrocytosis-2 (MIM# 263400).
  • Triplosensitivity score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for gain of function phenotype
PubMed ID Description
20420027 Case report of a paternally-inherited microduplication of 3p25.3 (251 kb) detected by aCGH in a 17 year-old male patient presenting with mental retardation and multiple congenital anomalies (MR/MCA), epilepsy and ectomorphic habitus, with no tumour and there is no history of familial cancer. Duplication encompasses VHL.