Monogenic diabetesGene: 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: 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 when marking as ready: Promoted from red to green due to expert review of this gene.
Created: 7 Jun 2016, 10:12 a.m.
Phenotypes for gene: GATA4 were changed from Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects to Neonatal diabetes; Pancreatic agenesis and/or congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Ivone Leong: Initial gene list and info col
Source NHS GMS was added to GATA4.
Added phenotypes Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects for gene: GATA4 Publications for gene GATA4 were changed from PMID: 24696446 to 24696446
gene: GATA4 was added gene: GATA4 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA4 were set to PMID: 24696446