This Panel is marked as Internal
Dystonia - childhood onset
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Chorea, hereditary benign 118700
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Adult onset neurodegenerative disorder
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Surfactant deficiency
- Fetal anomalies
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Inherited non-medullary thyroid cancer
- DDG2P
- Brain channelopathy
- Congenital hypothyroidism
- Pituitary hormone deficiency
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NKX2-1 was added gene: NKX2-1 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-1 were set to 24555207 Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978