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BabyScreen+ newborn screening

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

3 reviews

Ari Horton (Monash Genetics)

Green List (high evidence)

Well-established gene-disease association for congenital heart defects and neonatal diabetes
Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects
Severity: variable defects. No syndromic features, no association with childhood onset arrhythmias (AF in teenagers and adulthood)
Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes
Genito-urinary defects, ID, Congenital diaphragmatic hernia
TOF requires repair 2-6mo, ASD 3-4 yo, VSD 2-3mo risk of heterotaxy
Neonatal diabetes
Expect to be able to distinguish between the two phenotypes clinically in the newborn period.
Included here for association with neonatal diabetes, has clinical relevance, early diagnosis of NND will assist with prognostication and treatment
Created: 15 Feb 2023, 4:15 a.m. | Last Modified: 15 Feb 2023, 4:15 a.m.
Panel Version: 0.1865

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy; Congenital Heart Disease; Arrhythmia; Extra-cardiac Manifestations

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Feb 2023, 4:15 a.m.
Last Modified: 15 Feb 2023, 4:15 a.m.
Panel version: 0.1865

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Expect to be able to distinguish between the two phenotypes clinically in the newborn period.

Included here for association with neonatal diabetes.
Created: 26 Oct 2022, 6:20 a.m. | Last Modified: 28 Dec 2022, 6:43 a.m.
Panel Version: 0.1698

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 26 Oct 2022, 6:20 a.m.
Last Modified: 28 Dec 2022, 6:43 a.m.
Panel version: 0.661

Alison Yeung (Victorian Clinical Genetics Services)

I don't know

Well-established gene-disease association for congenital heart defects and neonatal diabetes
Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes
Created: 24 Oct 2022, 12:27 a.m. | Last Modified: 24 Oct 2022, 12:47 a.m.
Panel Version: 0.606

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429

Created: 24 Oct 2022, 12:27 a.m.
Last Modified: 24 Oct 2022, 12:47 a.m.
Panel version: 0.606

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Neonatal diabetes mellitus, MONDO:0016391, GATA4-related
Tags
treatable endocrine
OMIM
600576
Clinvar variants
Variants in GATA4
Penetrance
None
Panels with this gene

History Filter Activity

28 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GATA4 were changed from Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Neonatal diabetes mellitus, MONDO:0016391, GATA4-related

28 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: GATA4. Tag endocrine tag was added to gene: GATA4.

26 Oct 2022, 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).

26 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GATA4 were changed from Congenital heart defects to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429

26 Oct 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: GATA4.

24 Oct 2022, Gel status: 3

Added Tag

Alison Yeung (Victorian Clinical Genetics Services)

Tag for review tag was added to gene: GATA4.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GATA4 was added gene: GATA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA4 were set to Congenital heart defects