ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
18726931 2009 review of all currently described FOXL2 mutations in blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) and premature ovarian failure. Overall, genomic rearrangements account for 19% (n = 145) of all molecular defects found in BPES.
15962237 Report of 5 deletions outside of the FOXL2 gene in probands with BPES phenotype indistinguishable from intragenic mutations. Study also characterizes 9 novel whole or partial FOXL2 deletions
20232352 Report of one known and 16 novel FOXL2 encompassing deletions in a cohort of BPES patients, some of which have associated clinical phenotypes, presumably related to the loss or disruption of genes proximal to FOXL2.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity