GATA6

GATA binding protein 6
OMIM: 601656
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001, ATRIOVENTRICULAR SEPTAL DEFECT 5 614474, ATRIAL SEPTAL DEFECT 9 614475
R-numbers: R143
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pancreatic agenesis and congenital heart defects, 600001, neonatal diabetes mellitus, Pancreatic agenesis and congenital heart defects
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ATRIAL SEPTAL DEFECT 9, PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS, ATRIOVENTRICULAR SEPTAL DEFECT 5
R-numbers: R141
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pancreatic agenesis and congenital heart defects, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)