Pulmonary fibrosis familial
Gene: NKX2-1
NKX2-1 (NK2 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:02 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Familial pulmonary fibrosis
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Adult onset neurodegenerative disorder
- Surfactant deficiency
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Pulmonary fibrosis familial
- Inherited non-medullary thyroid cancer
- Brain channelopathy
- Fetal anomalies
- Congenital hypothyroidism
- Pituitary hormone deficiency
- Paroxysmal central nervous system disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
16 Feb 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: NKX2-1 was added gene: NKX2-1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NKX2-1 were set to 19336474; 9565498; 23430038 Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978