NKX2-1 - Gene browser

NKX2-1

NK2 homeobox 1

HCNC Approved Symbol: NKX2-1 (HGNC:11825)
Genomic Coordinates: 14:36,516,397 - 36,520,232 (14q13.3)
Synonyms: TTF-1, TTF1, NKX2A, BCH, TITF1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the NKX2-1 gene.

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

010
Patient count

Congenital hypothyroidism: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Genu recurvatum: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Ataxia: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Hypothyroidism: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Speech delay: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)