DEMO Diabetes neonatal onset
Gene: GATA4
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: GATA4; 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: neonatal diabetes and congenital heart defects.Created: 11 Jan 2019, 4:27 p.m.
After the first report of 2 patients with neonatal diabetes, we now have identified 2 further patients with neonatal diabetes and a spontaneous GATA4 deletion.Created: 29 May 2017, 8:34 a.m.
Comment when marking as ready: Marked as ready: May 30th 2017.Created: 30 May 2017, 9:44 a.m.
Comment on list classification: Updated rating from Red to Green: Expert reviewed green plus >3 cases of GATA4 deletions (publications plus further cases reported by Elisa de Franco). GATA4 is also green on multiple other diabetes panels.Created: 30 May 2017, 9:44 a.m.
PMID:20854389 (D'Amato et al., 2010) find a GATA (c1512C>T) mutation in a patient with pancreatic agenesis and an atrial septal defect. However, in family members, the GATA4 mutation co-segregated with a cardiac phenoptype, but not with pancreatic agenesis, and the authors conclude that the pancreatic agenesis may be due to an alternative independent event.Created: 24 Apr 2017, 8:41 a.m.
PMID:24696446 (Shaw-Smith et al., 2014) report 4 patients with diabetes in the neonatal period and deletions (17Mb , 15 Mb and 1Mb) or mutation (missense c819C>A, p.N273K) in the GATA4 gene. All the deletions span multiple genes.Created: 20 Apr 2017, 1:18 p.m.
Added 'deletions' tag, based on deletions reported in PMID:24696446 (Shaw-Smith et al., 2014).Created: 20 Apr 2017, 1:13 p.m.
Comment when marking as ready: Promoted from red to green due to expert review of this gene.Created: 7 Jun 2016, 10:12 a.m.
gene: GATA4 was added gene: GATA4 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA4 were set to 24696446; 27810688; 20854389 Phenotypes for gene: GATA4 were set to transient neonatal diabetes melllitus; permanent neonatal diabetes melllitus; Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects