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Severe Paediatric Disorders

Gene: GATA4

Green List (high evidence)

GATA4 (GATA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000136574
EnsemblGeneIds (GRCh37): ENSG00000136574
OMIM: 600576, Gene2Phenotype
GATA4 is in 11 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: GATA4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Atrial septal defect 2, 607941 (3) | Atrioventricular septal defect 4, 614430 (3) | ?Testicular anomalies with or without congenital heart disease, 615542 (3) | Tetralogy of Fallot, 187500 (3) | Ventricular septal defect 1, 614429 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Tetralogy of Fallot, 187500
  • Atrial septal defect 2, 607941
  • ?Testicular anomalies with or without congenital heart disease, 615542
  • Atrioventricular septal defect 4, 614430
  • Ventricular septal defect 1, 614429
OMIM
600576
Clinvar variants
Variants in GATA4
Penetrance
None
Publications
Panels with this gene