ClinGen Dosage Sensitivity Curation Page

IGF2R

  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

This is an imprinted gene: A small number of individuals with Russell Silver syndrome (RSS) have abnormal hypermethylation of IGF2R with normal methylation of H19 [PMID:20104244]. IGF2R has been proposed to be a tumor suppressor gene given its antagonist role on cellular growth and evidence of loss of heterozygosity in several cancers. Also, compound heterozygous sequence mutations in IGF2R have been reported in hepatocellular carcinoma (De Souza et al. 1995; PMID:7493029).

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity