Dystonia - complex
Gene: NKX2-1EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 7 cases with dystonia as a feature of the condition.
Sources: Expert listCreated: 6 Apr 2020, 2:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chorea, hereditary benign MIM#118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chorea, hereditary benign MIM#118700
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital hypothyroidism
- Fetal anomalies
- Additional findings_Paediatric
- Pulmonary Fibrosis_Interstitial Lung Disease
- Incidentalome_PREGEN_DRAFT
- Dystonia - complex
- Mendeliome
- BabyScreen+ newborn screening
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nkx2-1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nkx2-1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NKX2-1 was added gene: NKX2-1 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-1 were set to 24714694; 30186310 Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign MIM#118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Review for gene: NKX2-1 was set to GREEN