ClinGen Dosage Sensitivity Curation Page

FOXL2

Select assembly: (NC_000003.11)

Haploinsufficiency score: 3
Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
Haploinsufficiency Phenotype: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

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.