FOXA2

forkhead box A2
OMIM: 600288, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FOXA2 in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperinsulinaemia

Green FOXA2 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperinsulinism MONDO:0002177

Green FOXA2 in Pituitary hormone deficiency


Level 2: Endocrine disorders
Version 0.34

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • No OMIM number
  • Congenital hyperinsulinism
  • Congenital hypopituitarism

Green FOXA2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Hyperinsulinism MONDO:0002177
Tags
  • treatable
  • endocrine