Gene Symbol:
GATA4
HGNC:4173
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8p23.1
Filters:

Definitive classifications

testicular anomalies with or without congenital heart disease
Submitted as: OMIM:615542
AD
03/30/2018
Evaluated
03/02/2021
Submitted
atrial septal defect 2
Submitted as: OMIM:607941
AD
07/22/2015
Evaluated
09/11/2023
Submitted
structural congenital heart disease, multiple types - GATA4
AD
02/07/2023
Evaluated
04/21/2024
Submitted

Strong classifications

pancreatic hypoplasia-diabetes-congenital heart disease syndrome
AD
02/19/2020
Evaluated
03/31/2021
Submitted
permanent neonatal diabetes mellitus
AD
02/19/2020
Evaluated
03/31/2021
Submitted
transient neonatal diabetes mellitus
AD
02/19/2020
Evaluated
03/31/2021
Submitted
neonatal diabetes mellitus
AD
01/29/2021
Evaluated
03/31/2021
Submitted
metabolic syndrome
AD
01/29/2021
Evaluated
03/31/2021
Submitted
atrial septal defect 2
Submitted as: OMIM:607941
AD
10/04/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

tetralogy of fallot
Submitted as: Orphanet:3303
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial atrial fibrillation
Submitted as: Orphanet:334
AD
09/14/2021
Evaluated
09/14/2021
Submitted
46,XY partial gonadal dysgenesis
Submitted as: Orphanet:251510
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

dilated cardiomyopathy
AD
11/30/2021
Evaluated
08/19/2023
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.