Genomics England

GATA binding protein 4

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ATRIAL SEPTAL DEFECT TYPE 2 607941
Green in Differences in sex development R-numbers: R146 Signed-off version 4.5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes ?Testicular anomalies with or without congenital heart disease, OMIM:615542
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ATRIAL SEPTAL DEFECT TYPE 2
Green in Monogenic diabetes R-numbers: R141 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects, Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Green in Neonatal diabetes R-numbers: R143 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802, permanent neonatal diabetes melllitus, MONDO:0100164, Transient neonatal diabetes mellitus (disease), MONDO:0020525