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  3. GATA6
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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 14 panels

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Established gene disease association for Pancreatic agenesis and congenital heart defects, metabolic disease with obesity, heart abnormalities and diabetes mellitus as congenital features of disease
Both adult onset and neonatal diabetes associated, mosaicism also reported
Created: 23 May 2024, 2:09 a.m. | Last Modified: 23 May 2024, 2:09 a.m.
Panel Version: 0.125

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802

Publications

Created: 23 May 2024, 2:09 a.m.
Last Modified: 23 May 2024, 2:09 a.m.
Panel version: 0.125

History Filter Activity

23 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata6 has been classified as Green List (High Evidence).

23 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS to pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GATA6 was added gene: GATA6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA6 were set to 25706805; 25708516; 25356219; 22158542; 27098067; 23635550; 22806356; 24310933; 23223019; 22962692; 26210631; 24433315; 23639568 Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS