Disorders of sex development
Gene: GATA4
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 4:46 p.m. | Last Modified: 31 Jan 2023, 4:46 p.m.
Panel Version: 3.2
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
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
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 614429Created: 13 Sep 2016, 8:26 a.m.
Associated with a relevant phenotype on OMIM: testicular anomalies with or without congenital heart disease, 615542Created: 23 May 2016, 8:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Tag Q2_21_rating was removed from gene: GATA4.
Source Expert Review Green was added to GATA4. Source NHS GMS was added to GATA4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: GATA4.
Gene: gata4 has been classified as Amber List (Moderate Evidence).
Publications for gene: GATA4 were set to 21220346
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
Promoted to V1 21/12/2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for GATA4 were set to 21220346
Phenotypes for GATA4 were set to ?Testicular anomalies with or without congenital heart disease 615542
This proposed gene was validated and added to this panel
GATA4 was added to Disorders of sex developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
GATA4 was added to Disorders of sex developmentpanel. Sources: Expert Review
GATA4 was created by John Achermann