GATA4

GATA binding protein 4
OMIM: 600576
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ATRIAL SEPTAL DEFECT TYPE 2 607941
R-numbers: R143
Signed-off version 3.1
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
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ATRIAL SEPTAL DEFECT TYPE 2
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)