Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: GATA4

Green List (high evidence)

GATA4 (GATA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000136574
EnsemblGeneIds (GRCh37): ENSG00000136574
OMIM: 600576, Gene2Phenotype
GATA4 is in 10 panels

2 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

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

25 Jul 2016, Gel status: 4

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.

22 Jul 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).

22 Jul 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GATA4 were set to 24696446

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

17 Aug 2015, Gel status: 1

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

20 Jul 2015, Gel status: 1

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

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA4 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN