FOXA2

forkhead box A2
OMIM: 600288, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FOXA2 in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.49

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

Green FOXA2 in Mendeliome


Version 1.3795

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperinsulinism MONDO:0002177
  • Hypopituitarism, MONDO:0005152

Green FOXA2 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypopituitarism, MONDO:0005152
  • Hyperinsulinism, MONDO:0002177

Green FOXA2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

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

Green FOXA2 in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.74

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Hypopituitarism, MONDO:0005152
  • Hyperinsulinism, MONDO:0002177