FOXE3

forkhead box E3
OMIM: 601094, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green FOXE3 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256

Green FOXE3 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256

Amber FOXE3 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • {Aortic aneurysm, familial thoracic 11, susceptibility to}, MIM# 617349

Amber FOXE3 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Aortic aneurysm, familial thoracic 11, susceptibility to, MIM# 617349

Green FOXE3 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red FOXE3 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256

Amber FOXE3 in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256

Green FOXE3 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, MIM#610256
  • Cataract 34, multiple types, MIM#612968
  • Aortic aneurysm, familial thoracic 11, susceptibility to}, MIM#617349

Green FOXE3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aphakia, congenital primary, 610256 (3)

Green FOXE3 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256
  • Cataract 34, multiple types, OMIM:612968

Green FOXE3 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Aphakia, congenital primary, 610256 (3)