Intellectual disability syndromic and non-syndromic
Gene: NKX2-1

NKX2-1 (NK2 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 12 panels

1 review

Chirag Patel (Genetic Health Queensland)

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: 3 Oct 2024, 1:29 a.m. | Last Modified: 3 Oct 2024, 1:29 a.m.

Panel Version: 0.6304

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700

Publications

PMID: 10931427, 27066577, 26839702, 26103969, 23911641, 11854319, 24714694

Created: 3 Oct 2024, 1:29 a.m.
Last Modified: 3 Oct 2024, 1:29 a.m.
Panel version: 0.6304

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978

OMIM

600635

Clinvar variants

Variants in NKX2-1

Penetrance

None

Publications

Panels with this gene