Monogenic diabetes
Gene: GATA6
Comment on phenotypes: Previous phenotypes:
Pancreatic agenesis and congenital heart defects;PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS;Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)Created: 3 Mar 2021, 3:56 p.m. | Last Modified: 3 Mar 2021, 3:56 p.m.
Panel Version: 2.13
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.
Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001; Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
Publications for gene: GATA6 were set to 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; 22158542; 26210631; 22962692; 27098067; 25708516; Lango Allen et al 2011 Nat Genet 44, 20-22 De Franco et al 2013 Diabetes 62, 993-997; 25356219
Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS to Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND 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 GATA6.
Added phenotypes Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS for gene: GATA6 Publications for gene GATA6 were changed from 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; PMID: 27098067; 22158542; 26210631; 22962692; 25708516; 25356219 to 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; 22158542; 26210631; 22962692; 27098067; 25708516; Lango Allen et al 2011 Nat Genet 44, 20-22 De Franco et al 2013 Diabetes 62, 993-997; 25356219
gene: GATA6 was added gene: GATA6 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA6 were set to 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; PMID: 27098067; 22158542; 26210631; 22962692; 25708516; 25356219