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Newborns main panel

Gene: FOXA2

Amber List (moderate evidence)
FOXA2 (forkhead box A2)
EnsemblGeneIds (GRCh38): ENSG00000125798
EnsemblGeneIds (GRCh37): ENSG00000125798
OMIM: 600288, Gene2Phenotype
FOXA2 is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 33999151 - describes 1 patient and reviews previous 5 patients
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • FOXA2 associated hyperinsulinism and hypopituitarism. No OMIM phenotype. Clingen moderate gene disease association with combined pituitary hormone deficiencies, genetic form
OMIM
600288
Clinvar variants
Variants in FOXA2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to FOXA2. Added phenotypes FOXA2 associated hyperinsulinism and hypopituitarism. No OMIM phenotype. Clingen moderate gene disease association with combined pituitary hormone deficiencies, genetic form for gene: FOXA2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: FOXA2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to FOXA2. Mode of inheritance for gene FOXA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes FOXA2 associated hyperinsulinism and hypopituitarism. No OMIM phenotype. Clingen moderate gene disease association with combined pituitary hormone deficiencies, genetic form for gene: FOXA2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: FOXA2 were changed from FOXA2 associated hyperinsulinism and hypopituitarism. No OMIM phenotype. Clingen moderate gene disease association with combined pituitary hormone deficiencies, genetic form; FOXA2 associated hyperinsulinism to FOXA2 associated hyperinsulinism and hypopituitarism. No OMIM phenotype. Clingen moderate gene disease association with combined pituitary hormone deficiencies, genetic form

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to FOXA2. Added phenotypes FOXA2 associated hyperinsulinism and hypopituitarism. No OMIM phenotype. Clingen moderate gene disease association with combined pituitary hormone deficiencies, genetic form for gene: FOXA2 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes FOXA2 associated hyperinsulinism for gene: FOXA2

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: FOXA2 was added gene: FOXA2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown