Congenital hyperinsulinismGene: FOXA2
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.
Phenotypes for gene: FOXA2 were changed from Hyperinsulinism; hypopituitarism to Hyperinsulinism; hypopituitarism; Dominant Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities
Gene: foxa2 has been classified as Green List (High Evidence).
Phenotypes for gene: FOXA2 were changed from to Hyperinsulinism; hypopituitarism
Publications for gene: FOXA2 were set to
Mode of inheritance for gene: FOXA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: FOXA2 was added gene: FOXA2 was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: FOXA2 was set to