Genomics England
GMS Panels
Panels
Genes and Entities

PRKRA

protein activator of interferon induced protein kinase EIF2AK2
OMIM: 603424
PanelMode of inheritanceDetails
2 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 3.19
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia 16, OMIM:612067
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia 16, 612067, early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa, Dystonia