BabyScreen+ newborn screening

Gene: NKX2-1

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978

Green List (high evidence)

Gene-disease association: strong. Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) is an autosomal dominant disorder characterized by onset of this triad of features in infancy. Movement abnormalities begin with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. Some patients show neonatal respiratory distress and developmental delay. The phenotype is variable both between and within families

Severity: moderate to severe

Age of onset: infant-child

Non-molecular confirmatory testing: TFT

Treatment: levolevothyroxine, levodopa, tetrabenazine for chorea. Green for treatability

Created: 5 Oct 2022, 12:47 a.m. | Last Modified: 5 Oct 2022, 12:47 a.m.

Panel Version: 0.274

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction; NKX2-1-Related Disorders