[NTR] NKX2-1

[elliebroeren]

Preferred gene-related syndrome label NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction

Synonyms N/A

Parent term (use OLS, or your favorite ontology browser) syndromic hypothyroidism

Definition The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.

**Definition source Devriendt et al., 1998, PMID: 9565498

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term? N/A

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[nicolevasilevsky]

@elliebroeren do you have an ORCID I could add to this new term?

[elliebroeren]

@elliebroeren do you have an ORCID I could add to this new term? Yes! It is 0009-0009-9147-3105

[nicolevasilevsky]

thanks!