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BabyScreen+ newborn screening

Gene: FOXA2

Green List (high evidence)
FOXA2 (forkhead box A2)
EnsemblGeneIds (GRCh38): ENSG00000125798
EnsemblGeneIds (GRCh37): ENSG00000125798
OMIM: 600288, Gene2Phenotype
FOXA2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association, at least 6 unrelated individuals reported.

Presents in infancy. Likely to become symptomatic while gNBS being delivered.

Treatment: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus, levothyroxine

Non-genetic confirmatory tests: glucose and insulin levels.
Created: 21 Nov 2022, 7:51 a.m. | Last Modified: 21 Nov 2022, 7:51 a.m.
Panel Version: 0.1001

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperinsulinism MONDO:0002177

Created: 21 Nov 2022, 7:51 a.m.
Last Modified: 21 Nov 2022, 7:51 a.m.
Panel version: 0.1001

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Hyperinsulinism MONDO:0002177
Tags
treatable endocrine
OMIM
600288
Clinvar variants
Variants in FOXA2
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: FOXA2. Tag endocrine tag was added to gene: FOXA2.

21 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxa2 has been classified as Green List (High Evidence).

21 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FOXA2 were changed from Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657 to Hyperinsulinism MONDO:0002177

21 Nov 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FOXA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXA2 was added gene: FOXA2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FOXA2 were set to Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657