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  3. PRKRA
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Dystonia - isolated/combined

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

p.Pro222Leu is a recurrent founder variant, but other variants reported as well. Multiple families.
Created: 29 Apr 2021, 8:08 a.m. | Last Modified: 29 Apr 2021, 8:08 a.m.
Panel Version: 0.48

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 16, MIM# 612067

Publications

Created: 29 Apr 2021, 8:08 a.m.
Last Modified: 29 Apr 2021, 8:08 a.m.
Panel version: 0.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 16, MIM# 612067
  • MONDO:0012789
Tags
founder
OMIM
603424
Clinvar variants
Variants in PRKRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2021, 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).

29 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRKRA were changed from early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia 16, 612067; Dystonia to Dystonia 16, MIM# 612067; MONDO:0012789

29 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRKRA were set to

29 Apr 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: PRKRA.

27 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRKRA was added gene: PRKRA was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRKRA were set to early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia 16, 612067; Dystonia