Familial diabetes
Gene: GATA4
GATA4 (GATA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000136574
EnsemblGeneIds (GRCh37): ENSG00000136574
OMIM: 600576, Gene2Phenotype
GATA4 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000136574
EnsemblGeneIds (GRCh37): ENSG00000136574
OMIM: 600576, Gene2Phenotype
GATA4 is in 10 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: GATA4; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes).Created: 11 Jan 2019, 10:04 a.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Promoted from red to green due to expert review of this gene.Created: 7 Jun 2016, 10:12 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- OMIM
- 600576
- Clinvar variants
- Variants in GATA4
- Penetrance
- Complete
- Publications
-
- PMID: 24696446
- Panels with this gene
History Filter Activity
7 Jun 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GATA4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
7 Jun 2016, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GATA4 were set to PMID: 24696446
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()GATA4 was added to Familial diabetespanel. Sources: UKGTN