Adult onset dystonia, chorea or related movement disorder
Gene: NKX2-1EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
Well described syndrome. PMID 24714694 assessed the phenotype; chorea or athetosis present in all, can have movement disorder only.Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- South West GLH
- Phenotypes
-
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
- Chorea, hereditary benign, OMIM:118700
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NKX2-1 were changed from Choreoathetosis, hypothyroidism, and neonatal respiratory distress; Chorea, hereditary benign 118700 to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978; Chorea, hereditary benign, OMIM:118700
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: nkx2-1 has been classified as Green List (High Evidence).
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress; Chorea, hereditary benign 118700 for gene: NKX2-1 Publications for gene NKX2-1 were changed from 24555207 to 24714694; 24555207
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NKX2-1.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to NKX2-1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NKX2-1 was added gene: NKX2-1 was added to Adult onset movement disorder. 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