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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 7 panels

3 reviews

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

PRKRA, HGNC:9438. Biallelic variants cause dystonia. From OMIM, features include onset of gait abnormalities and leg pain around age 12 years, followed by dysphagia, spasmodic dysphonia generalized dystonia, torticollis, upper limb dystonia, and opisthotonic posturing. Tremor is also prevalent. Delayed development, and speech and language delay may also be seen. More than 5 unrelated families reported.
Noted below, p.Pro222Leu is a recurrent founder variant, but other variants reported as well. Multiple families.
Known presence of pseudogene, see notes below (PMID:35844281).
Created: 4 Feb 2025, 9:45 a.m. | Last Modified: 4 Feb 2025, 9:45 a.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 16, MIM# 612067; MONDO:0012789

Publications

Created: 4 Feb 2025, 9:45 a.m.
Last Modified: 4 Feb 2025, 9:45 a.m.
Panel version: 1.1456

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Founder variant but multiple other families reported.

Pseudogene is a processed pseudogene and therefore false positives can be identified on manual inspection. Risk of false negatives is low.
Created: 17 Aug 2022, 6:50 a.m. | Last Modified: 17 Aug 2022, 6:51 a.m.
Panel Version: 0.135

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 16 (MIM#612067)

Created: 17 Aug 2022, 6:50 a.m.
Last Modified: 17 Aug 2022, 6:51 a.m.
Panel version: 0.135

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

p.Pro222Leu is a recurrent founder variant, but other variants reported as well. Multiple families.

Presence of a processed pseudogene may impact accurate variant detection and interpretation by NGS
Created: 21 Jul 2022, 11:55 p.m. | Last Modified: 21 Jul 2022, 11:55 p.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 16 (MIM#612067)

Publications

Created: 21 Jul 2022, 11:55 p.m.
Last Modified: 21 Jul 2022, 11:55 p.m.
Panel version: 0.61

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dystonia 16, MIM#612067
OMIM
603424
Clinvar variants
Variants in PRKRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkra has been classified as Green List (High Evidence).

17 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: PRKRA.

26 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: PRKRA.

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKRA was added gene: PRKRA was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKRA were set to 25142429; 29279192 Phenotypes for gene: PRKRA were set to Dystonia 16, MIM#612067