1. Genes and Genomic Entities
  2. PRKRA

PRKRA

protein activator of interferon induced protein kinase EIF2AK2
OMIM: 603424, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green PRKRA in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Early Onset Complex Disease
  • Early-Onset Generalized Dystonia-Parkinsonism
  • Dystonia 16
  • early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
Green PRKRA in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dystonia
  • Dystonia 16, 612067
  • early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
Amber PRKRA in Neurodegenerative disorders, adult onset


Level 2: Neurology
Version 9.5
Latest signed off version: v9.4 (12 Aug 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Dystonia 16, OMIM:612067
    Red PRKRA in Intellectual disability


    Level 2: Developmental disorders
    Version 11.23
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Dystonia 16, 612067
    Green PRKRA in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Dystonia 16, OMIM:612067
    Green PRKRA in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dystonia 16, 612067
    • early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
    • Dystonia