Dilated Cardiomyopathy
Gene: GATA6EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Borderline number of segregations done as part of the original study.Created: 5 Aug 2020, 6:11 a.m. | Last Modified: 5 Aug 2020, 6:11 a.m.
Panel Version: 0.58
Paul De Fazio (Victorian Clinical Genetics Services)
PMID 25119427: 2 Chinese DCM families from a cohort of 140 reported with missense variants in GATA6 (both variants absent from gnomAD). Variants segregated with disease. Luciferase reporter assays showed the GATA6 mutant proteins caused reduced transcriptional activation.
Other clinical reports list complex cardiac phenotypes associated with other abnormalities (especially pancreatic) (PMID: 31301121).
Combinatorial deletion of Gata4 and Gata6 from the adult heart of mice resulted in dilated cardiomyopathy and lethality by 16 weeks of age (PMID: 20705924).
Sources: LiteratureCreated: 5 Aug 2020, 1:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dilated cardiomyopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Dilated cardiomyopathy
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gata6 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: GATA6 was added gene: GATA6 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA6 were set to 25119427; 31301121; 20705924 Phenotypes for gene: GATA6 were set to Dilated cardiomyopathy Review for gene: GATA6 was set to AMBER gene: GATA6 was marked as current diagnostic