NKX2-5 - Gene browser

NKX2-5

NK2 homeobox 5

HCNC Approved Symbol: NKX2-5 (HGNC:2488)
Genomic Coordinates: 5:173,232,109 - 173,235,206 (5q35.1)
Synonyms: CSX1, NKX2.5, NKX4-1, CSX, NKX2E
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the NKX2-5 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

02
Patient count

Aortic dilatation: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Ebstein's anomaly: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Delayed fine motor development: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Delayed gross motor development: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Delayed speech and language development: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)