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FOXL2 - forkhead box L2

Synonym(s) : BPES1
Previous symbols and names : BPES
Type : gene with protein product
Chromosomal location : 3q22.3
OMIM: 605597
HGNC: 1092
UniProtKB: P58012
Genatlas: FOXL2
Ensembl: ENSG00000183770
IUPHAR-DB: -
Reactome: P58012
LOVD: FOXL2

Diseases list

Disease-causing germline mutation(s) in Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
Disease-causing germline mutation(s) in Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 ORPHA:572361
Disease-causing germline mutation(s) in NON RARE IN EUROPE: Primary ovarian failure ORPHA:619
Disease-causing somatic mutation(s) in Maligant granulosa cell tumor of the ovary ORPHA:99915
Role in the phenotype of Blepharophimosis-ptosis-epicanthus inversus syndrome plus ORPHA:572333

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Patient-centred resources for this gene

Diagnostic tests (94)

Research activities on this gene

Specialised Social Services

Eurordis directory

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