This Panel is marked as Internal
DEMO Diabetes neonatal onset
Gene: GATA4
GATA4 (GATA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000136574
EnsemblGeneIds (GRCh37): ENSG00000136574
OMIM: 600576, Gene2Phenotype
GATA4 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000136574
EnsemblGeneIds (GRCh37): ENSG00000136574
OMIM: 600576, Gene2Phenotype
GATA4 is in 10 panels
5 reviews
Ivone Leong (Genomics England Curator)
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.
Sian Ellard (University of Exeter Medical School)
Elisa De Franco (University of Exeter Medical School)
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.
Rebecca Foulger (Genomics England curator)
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.
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- UKGTN
- Eligibility statement prior genetic testing
- NHS GMS
- Expert Review Green
- NHS GMS
- Phenotypes
-
- transient neonatal diabetes melllitus
- permanent neonatal diabetes melllitus
- Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects
- OMIM
- 600576
- Clinvar variants
- Variants in GATA4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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