Dilated and arrhythmogenic cardiomyopathy
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
2 reviews
Ida Ertmanska (Genomics England Curator)
The gene-disease relationship between GATA6 and autosomal dominant dilated cardiomyopathy has been classified as No Known Disease Relationship by ClinGen (Dilated Cardiomyopathy GCEP, December 2024).Created: 13 Jan 2026, 4:11 p.m. | Last Modified: 13 Jan 2026, 4:11 p.m.
Panel Version: 3.10
Ivone Leong (Genomics England Curator)
New gene submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- OMIM
- 601656
- Clinvar variants
- Variants in GATA6
- Penetrance
- None
- Panels with this gene
-
- Dilated and arrhythmogenic cardiomyopathy
- Familial non syndromic congenital heart disease
- DDG2P
- Multi-organ autoimmune diabetes
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Clefting
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
History Filter Activity
3 Dec 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: GATA6 was added gene: GATA6 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown