×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
CLINVAR
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
CausalMutation
CLINVAR
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
CTD_human
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome (BPES ) is caused by autosomal dominant mutations in FOXL2 .31077882 2019
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Blepharophimosis syndrome (BPES , blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion.7795600 1995
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
GENOMICS_ENGLAND
FOXL2 and BPES : mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.12529855 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
FOXL2 and BPES : mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.12529855 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
BEFREE
FOXL2 and BPES : mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.12529855 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
FOXL2 is a forkhead transcription factor, essential for ovarian function, whose mutations are responsible for the blepharophimosis syndrome , characterized by craniofacial defects, often associated with premature ovarian failure.19010791 2009
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report.19819892 2010
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
BEFREE
A deletion that involves not only FOXL2 but also adjacent genes can result in additional clinical features ("blepharophimosis syndrome plus").
25032695 2014
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
A multi-mutation of FOXL2 was detected in one BPES family that showed more severe BPES symptoms.
22926839 2012
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
A novel heterozygous mutation c.188 T > A (p.I63N ) in FOXL2 was identified in two BPES patients in this family.
31823134 2020
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
A novel insertion in the forkhead transcription factor 2 (FOXL2 ) was identified in a Chilean patient with blepharophimosis, ptosis, and epicanthus inversus syndrome associated with premature ovarian failure (BPES type I).
24030029 2014
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome : differential role of the polyalanine tract in the development of the ovary and the eyelid.
11910558 2002
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
A novel polyalanine expansion in FOXL2 : the first evidence for a recessive form of the blepharophimosis syndrome (BPES ) associated with ovarian dysfunction.
17089161 2007
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
AlteredExpression
BEFREE
A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice.
24565867 2014
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
BEFREE
As a model for monogenic disease we studied the involvement of genetic changes of CNCs in the cis-regulatory domain of FOXL2 in blepharophimosis syndrome (BPES ).
19543368 2009
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.
12938087 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.
12938087 2003
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
BEFREE
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.
18484667 2008
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.
18484667 2008
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
Biomarker
MGD
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
15056605 2004
×
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000
GeneticVariation
UNIPROT
Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).
15257268 2004