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  3. FOXL2
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Blepharophimosis ptosis and epicanthus inversus

Gene: FOXL2

Green List (high evidence)
FOXL2 (forkhead box L2)
EnsemblGeneIds (GRCh38): ENSG00000183770
EnsemblGeneIds (GRCh37): ENSG00000183770
OMIM: 605597, Gene2Phenotype
FOXL2 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #110100) and the OMIM record was last accessed on 17 December 2025.
Created: 17 Dec 2025, 10:11 p.m. | Last Modified: 17 Dec 2025, 10:11 p.m.
Panel Version: 1.2
FOXL2 has been added to the panel for R43 Blepharophimosis ptosis and epicanthus inversusa with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 9:36 a.m. | Last Modified: 30 Jun 2023, 9:36 a.m.
Panel Version: 0.1

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 30 Jun 2023, 9:36 a.m.
Last Modified: 30 Jun 2023, 9:36 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Blepharophimosis, ptosis, and epicanthus inversus, OMIM:110100
  • blepharophimosis, ptosis, and epicanthus inversus syndrome, MONDO:0007201
OMIM
605597
Clinvar variants
Variants in FOXL2
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: FOXL2 were changed from to Blepharophimosis, ptosis, and epicanthus inversus, OMIM:110100; blepharophimosis, ptosis, and epicanthus inversus syndrome, MONDO:0007201

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FOXL2 was added gene: FOXL2 was added to Blepharophimosis ptosis and epicanthus inversus. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FOXL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal