This Panel is marked as Internal
Isomerism and laterality disorders
Gene: GATA6
GATA6 (GATA binding protein 6)
EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 12 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Atrioventricular septal defect 5, 614474
- Atrial septal defect 9, 614475
- OMIM
- 601656
- Clinvar variants
- Variants in GATA6
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Familial non syndromic congenital heart disease
- Familial diabetes
- Multi-organ autoimmune diabetes
- Neonatal diabetes
- Monogenic diabetes
- Clefting
- Fetal anomalies
- DDG2P
- Dilated and arrhythmogenic cardiomyopathy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GATA6 was added to Isomerism and laterality disorderspanel. Sources: Radboud University Medical Center, Nijmegen
16 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GATA6 was created by ellenmcdonagh