ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000005.9) (NC_000005.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
  • Triplosensitivity score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for triplosensitivity phenotype
PubMed ID Description
16865294 Koolen et al describe a 1.25 Mb dup that includes FBXW11 in a patient with holoprosencephaly and preaxial polydactyly. They proposed that FBXW11 is a candidate gene to explain phenotype. There are no other published descriptions of duplications of FBXW11 specifically.