Adult onset dystonia, chorea or related movement disorder
Gene: NKX2-1
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.
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
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
Gene: nkx2-1 has been classified as Green List (High Evidence).
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
Source NHS GMS was added to NKX2-1.
Source South West GLH was added to NKX2-1.
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