FOXL2

forkhead box L2
OMIM: 605597, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green FOXL2 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.71

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • BPES, premature ovarian failure
  • Premature ovarian failure 3,608996
  • Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2,110100
Amber FOXL2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME
Green FOXL2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME 110100
    Green FOXL2 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Other
    Red FOXL2 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    Phenotypes
    • Blepharophimosis, epicanthus inversus, and ptosis, 110100
    Green FOXL2 in Blepharophimosis ptosis and epicanthus inversus


    Level 2: Ophthalmology
    Version 1.3
    Latest signed off version: v1.0 (14 Sep 2023)

    review 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