Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: GATA4EnsemblGeneIds (GRCh38): ENSG00000136574
EnsemblGeneIds (GRCh37): ENSG00000136574
OMIM: 600576, Gene2Phenotype
GATA4 is in 10 panels
2 reviews
Sian Ellard (University of Exeter Medical School)
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, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects
- OMIM
- 600576
- Clinvar variants
- Variants in GATA4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GATA4 were set to 24696446
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GATA4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GATA4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)GATA4 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN