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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 13 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

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