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 5.48
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: R21, R412
Signed-off version 5.80
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 2.60
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001, Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
R-numbers: R143
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pancreatic agenesis and congenital heart defects, OMIM:600001, neonatal diabetes mellitus, MONDO:0016391