Familial non syndromic congenital heart disease
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
Alice Gardham (Genomics England)
Comment on list classification: Reasonable amount of literature to demonstrate that mutations cause congenital heart diseaseCreated: 28 Nov 2016, 1:54 p.m.
Ellen McDonagh (Genomics England Curator)
This is a confirmed DD gene for atrial septal defect 9; atrioventricular septal defect 5; and pancreatic agenesis, diaphragmatic hernia and congenital heart defects.Created: 22 Jul 2016, 8:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Tetralogy of Fallot
- OMIM
- 601656
- Clinvar variants
- Variants in GATA6
- Penetrance
- Complete
- Panels with this gene
-
- Dilated and arrhythmogenic cardiomyopathy
- Familial non syndromic congenital heart disease
- DDG2P
- Multi-organ autoimmune diabetes
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Clefting
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
History Filter Activity
26 Jan 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January
19 Dec 2016, Gel status: 4
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for GATA6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
28 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
28 Nov 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GATA6 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen
28 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GATA6 was created by ellenmcdonagh