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  3. GATA6
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Fetal anomalies

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Recent review of 78 published cases: most common phenotypes were structural cardiac and pancreatic abnormalities, with a penetrance of 87 and 60%, respectively. Other common malformations were gallbladder agenesis, congenital diaphragmatic hernia, and neurocognitive abnormalities, mostly developmental delay. Approximately half were inherited, variable expressivity.
Sources: Expert list
Created: 14 Nov 2020, 6:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pancreatic agenesis and congenital heart defects, MIM# 600001

Publications

Created: 14 Nov 2020, 6:04 a.m.

Panel version: Imported from Congenital diaphragmatic hernia panel version 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Pancreatic agenesis and congenital heart defects, MIM# 600001
OMIM
601656
Clinvar variants
Variants in GATA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2022, 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).

5 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GATA6 were changed from ATRIOVENTRICULAR SEPTAL DEFECT 5; PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS; ATRIAL SEPTAL DEFECT 9 to Pancreatic agenesis and congenital heart defects, MIM# 600001

5 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GATA6 were set to

5 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GATA6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GATA6 was added gene: GATA6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5; PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS; ATRIAL SEPTAL DEFECT 9