• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FOXL2 (HGNC:1092) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
forkhead box L2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
BPES
Alias symbols
BPES1
%HI
21.55(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.88(Read more about gnomAD pLI score)
LOEUF
0.44(Read more about gnomAD LOEUF score)
Cytoband
3q22.3
Genomic Coordinates
GRCh37/hg19: chr3:138663066-138665979 NCBI Ensembl UCSC
GRCh38/hg38: chr3:138944224-138947137 NCBI Ensembl UCSC
MANE Select Transcript
NM_023067.4 ENST00000648323.1 (Read more about MANE Select)
Function
Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans- differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By similarity). Is a regulator of CYP19 expression (By similarity). Pa... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-14187
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/09/2021

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • blepharophimosis, ptosis, and epicanthus inversus syndrome Monarch
HI Evidence:
  • PUBMED: 28924383
    In 2017, Chai et al. used PCR on a 4-generational Chinese family with clinically diagnosed blepharophimosis/ptosis/epicanthus inversus syndrome (BPES). Analysis showed an indel mutation of FOXL2 in 8 affected family members leading to predicted truncation of two proteins.
  • PUBMED: 15962237
    In 2005, Beysen et al. used MLPA on 37 individuals with clinically diagnosed BPES. Authors report 8 whole or partial FOXL2 deletions with 3 deletions inherited from a parent and 5 deletions with unknown inheritance. 5 other participants had whole or partial deletions of the FOXL2 and ATR genes.
  • PUBMED: 20232352
    In 2010, D'haene et al. used multiplex litigation-dependent probe amplification (MLPA) on a cohort of 17 individuals with BPES. 12 individuals had whole FOXL2 deletions and 5 individuals had whole FOXL2 and ATR deletions. Inheritance is unknown for these individuals.
  • PUBMED: 11468277
    In 2001, De Baere et al. used PCR on individuals with BPES type I, type II, or with an unknown types of BPES and 30 individuals with premature ovarian failure (POF). The authors found 7 families that had a deletion, nonsense, or frameshift mutation in FOXL2. 2 individuals had de novo deletions, and 1 individuals had a de novo frameshift mutation.
  • PUBMED: 29339661
    In 2018, Fang et al. used PCR in a 15-member Chinese family with clinically diagnosed BPES. Analysis showed a 7-bp deletion of FOXL2 in 4 affected family members.
  • PUBMED: 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.
HI Evidence Comments:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)