Dystonia - childhood onset

Gene: PRKRA

Green List (high evidence)

PRKRA (protein activator of interferon induced protein kinase EIF2AK2)
EnsemblGeneIds (GRCh38): ENSG00000180228
EnsemblGeneIds (GRCh37): ENSG00000180228
OMIM: 603424, Gene2Phenotype
PRKRA is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia 16, 612067
  • Dystonia
  • early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
OMIM
603424
Clinvar variants
Variants in PRKRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: PRKRA was added gene: PRKRA was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKRA were set to 24142417; 22842711; 26990861; 25737287; 18420150; 20301334; 25142429; 18243799; 25914261 Phenotypes for gene: PRKRA were set to Dystonia 16, 612067; Dystonia; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa