Interstitial Lung Disease

Gene: NKX2-1

Green List (high evidence)

Agree with other reviewer.

Created: 6 Nov 2021, 6:32 a.m. | Last Modified: 6 Nov 2021, 6:32 a.m.

Panel Version: 0.183

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neonatal respiratory distress syndrome; chILD

Green List (high evidence)

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.

More than 30 families reported.

Created: 29 Oct 2021, 3:55 a.m. | Last Modified: 29 Oct 2021, 3:55 a.m.

Panel Version: 0.122

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

• 23911641
• 11854319
• 24714694