Gene Symbol:
NKX2-5
HGNC:2488
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5q34
Filters:

Definitive classifications

atrial septal defect 7
Submitted as: OMIM:108900
AD
07/22/2015
Evaluated
11/25/2020
Submitted
tetralogy of fallot
Submitted as: OMIM:187500
AD
07/22/2015
Evaluated
11/25/2020
Submitted
hypothyroidism, congenital, nongoitrous, 5
Submitted as: OMIM:225250
AD
07/22/2015
Evaluated
11/25/2020
Submitted
conotruncal heart malformations
Submitted as: OMIM:217095
SD
08/31/2018
Evaluated
12/24/2020
Submitted

Strong classifications

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

Moderate classifications

hypothyroidism, congenital, nongoitrous, 5
Submitted as: OMIM:225250
AD
08/31/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

atrial septal defect 7
Submitted as: Orphanet:1479
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
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial isolated congenital asplenia
Submitted as: Orphanet:101351
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial bicuspid aortic valve
Submitted as: Orphanet:402075
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

dilated cardiomyopathy
AD
11/06/2020
Evaluated
08/16/2021
Submitted

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