GATA4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Differences in sex development

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial diabetes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial non syndromic congenital heart disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Monogenic diabetes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Neonatal diabetes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• atrial septal defect 2

  0.79

• ventricular septal defect 1

  0.76

• atrioventricular septal defect 4

  0.74

• Tetralogy of Fallot

  0.73

• congenital heart disease

  0.53

• neurodegenerative disease

  0.52

• 46,XY partial gonadal dysgenesis

  0.51

• testicular anomalies with or without congenital heart disease

  0.50

• pancreatic hypoplasia-diabetes-congenital heart disease syndrome

  0.48

• Pancreatic hypoplasia - diabetes - congenital heart disease

  0.48

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)