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Research panel - Severe Paediatric Disorders

Gene: GATA6

Green List (high evidence)
GATA6 (GATA binding protein 6)
EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GATA6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Atrial septal defect 9, 614475 (3) | Atrioventricular septal defect 5, 614474 (3) | Pancreatic agenesis and congenital heart defects, 600001 (3) | Persistent truncus arteriosus, 217095 (3) | Tetralogy of Fallot, 187500 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | ND | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Persistent truncus arteriosus, 217095
  • Tetralogy of Fallot, 187500
  • Atrioventricular septal defect 5, 614474
  • Atrial septal defect 9, 614475
  • Pancreatic agenesis and congenital heart defects, 600001
OMIM
601656
Clinvar variants
Variants in GATA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GATA6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GATA6 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrioventricular septal defect 5, 614474; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Persistent truncus arteriosus, 217095; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500; Pancreatic agenesis and congenital heart defects, 600001; Atrial septal defect 9, 614475 for gene: GATA6

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to GATA6.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GATA6. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GATA6 was added gene: GATA6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GATA6 was set to