Familial diabetes
Gene: GATA6
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: GATA6; 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: Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes).Created: 11 Jan 2019, 10:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted to green due to expert review and additional evidence.Created: 7 Jun 2016, 11:23 a.m.
This gene has been classified as Green List (High Evidence).
Publications for GATA6 were set to PMID: 27098067; 26210631; 25706805; 25708516; 25356219; 24433315; 24310933; 23639568; 23635550; 22962692; 22806356; 22158542
Mode of inheritance for GATA6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
GATA6 was added to Familial diabetespanel. Sources: UKGTN