Gene Symbol:
NKX2-5
HGNC:2488
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5q35.1
Filters:

Athyreosis classifications

AD
09/14/2021
Evaluated
09/14/2021
Submitted

Atrial septal defect 7 classifications

atrial septal defect 7
Submitted as: OMIM:108900
AD
07/22/2015
Evaluated
09/11/2023
Submitted
atrial septal defect 7
Submitted as: OMIM:108900
AD
08/20/2020
Evaluated
03/31/2021
Submitted
atrial septal defect 7
Submitted as: OMIM:108900
AD
08/30/2018
Evaluated
12/24/2020
Submitted
atrial septal defect 7
Submitted as: OMIM:108900
AD
05/14/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
atrial septal defect 7
Submitted as: Orphanet:1479
AD
09/14/2021
Evaluated
09/14/2021
Submitted
atrial septal defect 7
Submitted as: OMIM:108900
AD
02/16/2023
Evaluated
11/30/2023
Submitted

Conotruncal heart malformations classifications

conotruncal heart malformations
Submitted as: OMIM:217095
SD
08/31/2018
Evaluated
12/24/2020
Submitted
conotruncal heart malformations
Submitted as: OMIM:217095
AD
08/30/2021
Evaluated
11/30/2023
Submitted

Dilated cardiomyopathy classifications

dilated cardiomyopathy
AD
11/06/2020
Evaluated
04/21/2024
Submitted

Familial atrial fibrillation classifications

familial atrial fibrillation
Submitted as: Orphanet:334
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Familial bicuspid aortic valve classifications

familial bicuspid aortic valve
Submitted as: Orphanet:402075
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Familial isolated congenital asplenia classifications

familial isolated congenital asplenia
Submitted as: Orphanet:101351
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Hypothyroidism, congenital, nongoitrous, 5 classifications

hypothyroidism, congenital, nongoitrous, 5
Submitted as: OMIM:225250
AD
07/22/2015
Evaluated
09/11/2023
Submitted
hypothyroidism, congenital, nongoitrous, 5
Submitted as: OMIM:225250
AD
08/31/2018
Evaluated
12/24/2020
Submitted
hypothyroidism, congenital, nongoitrous, 5
Submitted as: OMIM:225250
Unknown
10/24/2022
Evaluated
11/30/2023
Submitted

NKX2.5-related congenital, conduction and myopathic heart disease classifications

NKX2.5-related congenital, conduction and myopathic heart disease
AD
06/29/2023
Evaluated
04/21/2024
Submitted

Tetralogy of fallot classifications

tetralogy of fallot
Submitted as: OMIM:187500
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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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.