Congenital hyperinsulinism

Gene: FOXA2

Green List (high evidence)

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

2 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperinsulinism; hypopituitarism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH).
Created: 28 Jan 2019, 11:21 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: FOXA2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Dominant Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.
Created: 11 Jan 2019, 2:24 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperinsulinism
  • hypopituitarism
  • Dominant Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities
OMIM
600288
Clinvar variants
Variants in FOXA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FOXA2 were changed from Hyperinsulinism; hypopituitarism to Hyperinsulinism; hypopituitarism; Dominant Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities

28 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).

28 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FOXA2 were changed from to Hyperinsulinism; hypopituitarism

28 Jan 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FOXA2 were set to

28 Jan 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: FOXA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: FOXA2 was added gene: FOXA2 was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: FOXA2 was set to