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  2. Hyperinsulinism
  3. FOXA2
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Hyperinsulinism

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)

At least two families reported and functional data.
Sources: Expert list
Created: 14 Feb 2020, 3:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperinsulinaemia

Publications

Created: 14 Feb 2020, 3:50 a.m.

Panel version: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperinsulinaemia
OMIM
600288
Clinvar variants
Variants in FOXA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Feb 2020, 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).

14 Feb 2020, 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).

14 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXA2 was added gene: FOXA2 was added to Hyperinsulinism. Sources: Expert list Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXA2 were set to 29329447; 28973288; 11445544 Phenotypes for gene: FOXA2 were set to Hyperinsulinaemia Review for gene: FOXA2 was set to GREEN