Monogenic diabetes

Gene: GATA6

Green List (high evidence)

GATA6 (GATA binding protein 6)
EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 13 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review and additional evidence.
Created: 7 Jun 2016, 11:23 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
Phenotypes
  • Pancreatic agenesis and congenital heart defects
  • PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
  • Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
OMIM
601656
Clinvar variants
Variants in GATA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

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

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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)

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GATA6.

18 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

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