Pulmonary Fibrosis_Interstitial Lung Disease
Gene: NKX2-1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

These likely represent a single disorder.
Created: 6 Apr 2022, 8:49 p.m. | Last Modified: 6 Apr 2022, 8:49 p.m.

Panel Version: 0.12644

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 6 Apr 2022, 8:49 p.m.
Last Modified: 6 Apr 2022, 8:49 p.m.
Panel version: Imported from Mendeliome panel version 0.12644

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Paediatric onset ataxia reported in greater than 3 families with the condition.
Created: 17 Apr 2020, 2:59 a.m. | Last Modified: 17 Apr 2020, 2:59 a.m.

Panel Version: 0.175

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 17 Apr 2020, 2:59 a.m.
Last Modified: 17 Apr 2020, 2:59 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.175

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Melbourne Hospital
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978

OMIM

600635

Clinvar variants

Variants in NKX2-1

Penetrance

None

Publications

Panels with this gene