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  2. Monogenic Diabetes
  3. GATA4
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Monogenic Diabetes

Gene: GATA4

Green List (high evidence)
GATA4 (GATA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000136574
EnsemblGeneIds (GRCh37): ENSG00000136574
OMIM: 600576, Gene2Phenotype
GATA4 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Meets criteria for Green rating.
Created: 23 May 2024, 3:44 a.m. | Last Modified: 23 May 2024, 3:44 a.m.
Panel Version: 0.125

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neonatal diabetes mellitus MONDO:0016391

Created: 23 May 2024, 3:44 a.m.
Last Modified: 23 May 2024, 3:44 a.m.
Panel version: 0.125

Hali Van Niel (University of Melbourne)

I don't know

24696446: 5 probands reported with diabetes and GATA4 variation, 4 with neonatal onset
20854389: GATA4 variant and presenting with neonatal diabetes due to pancreatic agenesis, unable to establish through segregation
Genomics england report 2 detected clinical cases of neonatal diabetes
Created: 23 May 2024, 2:50 a.m. | Last Modified: 23 May 2024, 2:50 a.m.
Panel Version: 0.125

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neonatal diabetes mellitus MONDO:0016391

Publications

Created: 23 May 2024, 2:50 a.m.
Last Modified: 23 May 2024, 2:50 a.m.
Panel version: 0.125

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • neonatal diabetes mellitus MONDO:0016391
OMIM
600576
Clinvar variants
Variants in GATA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata4 has been classified as Green List (High Evidence).

23 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GATA4 were changed from to neonatal diabetes mellitus MONDO:0016391

17 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GATA4 was added gene: GATA4 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green,NHS GMS Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA4 were set to 27810688; 24696446; 20854389