Disorders of sex development

Gene: GATA4

Amber List (moderate evidence)

GATA4 (GATA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000136574
EnsemblGeneIds (GRCh37): ENSG00000136574
OMIM: 600576, Gene2Phenotype
GATA4 is in 11 panels

4 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Created: 1 Mar 2021, 2:24 p.m. | Last Modified: 1 Mar 2021, 2:24 p.m.
Panel Version: 2.28

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Another family published. Second family and animal model data, consider upgrading to Amber/Green.
Created: 15 Jul 2020, 8:35 a.m. | Last Modified: 15 Jul 2020, 8:35 a.m.
Panel Version: 2.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Testicular anomalies with or without congenital heart disease, MIM#615542

Publications

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

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Associated with Testicular anomalies with or without congenital heart disease 615542 in OMIM, not in G2P / DD. Only one variant reported for this phenotype in four members of a single family, including unaffected mother. There is considerable published evidence for involvement of GATA4 in gonadal development from animal studies.
Created: 13 Sep 2016, 8:33 a.m.
Comment on phenotypes: Variants also reported in atrial septal defect 2 607941; Atrioventricular septal defect 4 614430; Tetralogy of Fallot 18750; Ventricular septal defect 1 614429
Created: 13 Sep 2016, 8:26 a.m.
Associated with a relevant phenotype on OMIM: testicular anomalies with or without congenital heart disease, 615542
Created: 23 May 2016, 8:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

John Achermann (UCL Institute of Child Health)

Red List (low evidence)

Rare cause of testicular dysgenesis. Changes often around DNA binding domain. Dominant de novo or maternally inherited in sex limited fashion. May be associated with variable heart defects from ASD/VSD to coarctation. Still few reported cases in the literature so may need functional work and consideration before reporting. Missense changes and haploinsufficiency have been reported in patients with isolated cardiac septal defects.
Created: 4 Feb 2016, 4:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Testicular dysgenesis, with or without heart defects

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Testicular anomalies with or without congenital heart disease, OMIM:615542
Tags
Q2_21_rating
OMIM
600576
Clinvar variants
Variants in GATA4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Mar 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: GATA4.

1 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gata4 has been classified as Amber List (Moderate Evidence).

1 Mar 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GATA4 were set to 21220346

1 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GATA4 were changed from ?Testicular anomalies with or without congenital heart disease 615542 to ?Testicular anomalies with or without congenital heart disease, OMIM:615542

21 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

13 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Sep 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Sep 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GATA4 were set to 21220346

13 Sep 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GATA4 were set to ?Testicular anomalies with or without congenital heart disease 615542

23 May 2016, Gel status: 2

Approved Gene

Sarah Leigh (Genomics England Curator)

This proposed gene was validated and added to this panel

23 May 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

GATA4 was added to Disorders of sex developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

4 Feb 2016, Gel status: 0

Created

John Achermann (UCL Institute of Child Health)

GATA4 was created by John Achermann

4 Feb 2016, Gel status: 0

Added New Source

John Achermann (UCL Institute of Child Health)

GATA4 was added to Disorders of sex developmentpanel. Sources: Expert Review