Differences in sex development

Gene: GATA4

Green List (high evidence)

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

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

• 21220346
• 31962012

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

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

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