GATA4

GATA binding protein 4
OMIM: 600576, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
No list GATA4 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed UKGTN Phenotypes Neonatal Diabetes Tags curated_removed
Green GATA4 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.69	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Phenotypes Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects
Green GATA4 in Neonatal diabetes Level 2: Endocrinology Version 6.1 Latest signed off version: v6.0 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Phenotypes Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802 permanent neonatal diabetes melllitus, MONDO:0100164 Transient neonatal diabetes mellitus (disease), MONDO:0020525 Tags deletions
Green GATA4 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.69	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green UKGTN
Green GATA4 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.90	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Testicular anomalies with or without congenital heart disease, 615542 Atrial septal defect 2, 607941 Atrioventricular septal defect 4, 614430 Tetralogy of Fallot, 187500 Ventricular septal defect 1, 614429
Green GATA4 in Monogenic diabetes Level 2: Endocrinology Version 3.22 Latest signed off version: v3.21 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes NEONATAL DIABETES MELLITUS, MONDO:0016391 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802 Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
Green GATA4 in Differences in sex development Level 2: Endocrinology Version 4.21 Latest signed off version: v4.20 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert Review Phenotypes ?Testicular anomalies with or without congenital heart disease, OMIM:615542
Green GATA4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.12 Latest signed off version: v7.0 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ATRIAL SEPTAL DEFECT TYPE 2
Green GATA4 in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATRIAL SEPTAL DEFECT TYPE 2 607941
Red GATA4 in Intellectual disability Level 2: Developmental disorders Version 10.18 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Atrial septal defect 2, 607941 Ventricular septal defect 1, 614429 Atrioventricular septal defect 4, 614430 ?Testicular anomalies with or without congenital heart disease, 615542 Tetralogy of Fallot, 187500