Transplant Co-Morbidity Superpanel
Gene: GATA6EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pancreatic agenesis and congenital heart defects, 600001
- Persistent truncus arteriosus, 217095
- Tetralogy of Fallot, 187500
- Atrial septal defect 9, 614475
- Atrioventricular septal defect 5, 614474
- OMIM
- 601656
- Clinvar variants
- Variants in GATA6
- Penetrance
- None
- Panels with this gene
-
- Congenital hypothyroidism
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Congenital Heart Defect
- Cardiomyopathy_Paediatric
- Monogenic Diabetes
- Mendeliome
- Dilated Cardiomyopathy
- Congenital diaphragmatic hernia
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Maturity-onset Diabetes of the Young
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GATA6 was added gene: GATA6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, 600001; Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474