Pituitary hormone deficiency

Gene: FOXA2

Green List (high evidence)

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

1 review

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 12:01 p.m.
Comment on list classification: Promoted from red to green. FOXA2 is not associated with any phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases of patients with congenical hypopituitarism who have de novo variants in FOX2A gene.
Created: 14 Dec 2018, 1:13 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • No OMIM number
  • Congenital hypopituitarism
  • Congenital hyperinsulinism
OMIM
600288
Clinvar variants
Variants in FOXA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Dec 2018, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

14 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FOXA2 were set to

14 Dec 2018, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FOXA2 were changed from No OMIM number; hypopituitarism to No OMIM number; Congenital hypopituitarism; Congenital hyperinsulinism

14 Dec 2018, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FOXA2 were changed from No OMIM number to No OMIM number; hypopituitarism

10 Dec 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: FOXA2 was added gene: FOXA2 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: FOXA2 was set to Unknown Phenotypes for gene: FOXA2 were set to No OMIM number