NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
Findings
No curated finding names NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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 from the Mondo Disease Ontology (MONDO:0100520), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NKX2-1HGNC:11825
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025