Childhood interstitial lung disease
Gene: NKX2-1EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 19 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
NKX2-1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #610978) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978; NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
- NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Familial pulmonary fibrosis
- Adult onset neurodegenerative disorder
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Surfactant deficiency
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia with onset in adulthood
- Childhood interstitial lung disease
- Pulmonary fibrosis familial
- Adult onset dystonia, chorea or related movement disorder
- Inherited non-medullary thyroid cancer
- Brain channelopathy
- Congenital hypothyroidism
- Pituitary hormone deficiency
- Paroxysmal central nervous system disorders
- Fetal anomalies
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: NKX2-1 was added gene: NKX2-1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978; NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520