PanelApp (staging)
  1. Genes and Genomic Entities
  2. FOXL2

FOXL2

forkhead box L2
OMIM: 605597, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FOXL2 in Blepharophimosis


Level 2: Ophthalmological disorders
Version 1.1

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100)

Green FOXL2 in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100)

Green FOXL2 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.339

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2,110100
  • Premature ovarian failure 3,608996

Red FOXL2 in Fetal anomalies


Version 1.313

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100)

Green BPES STR in Repeat Disorders


Version 0.168

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100
  • Premature ovarian failure 3 MIM#608996
Tags
  • paediatric-onset