Clefting disorders
Gene: GATA6
GATA6 (GATA binding protein 6)
EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- CTHM
- CONOTRUNCAL HEART MALFORMATIONS
- OMIM
- 601656
- Clinvar variants
- Variants in GATA6
- Penetrance
- None
- Publications
- 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
16 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GATA6 was added gene: GATA6 was added to Clefting_GEL. Sources: Expert Review Red Mode of inheritance for gene: GATA6 was set to Unknown Publications for gene: GATA6 were set to 27391658 Phenotypes for gene: GATA6 were set to CTHM; CONOTRUNCAL HEART MALFORMATIONS