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  3. PRKRA
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Early-onset Parkinson disease

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

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

33502045:
- 23 PRKRA mutation carriers found from 15 families, 50% had a Parkinsonism phenotype
Created: 25 Aug 2023, 5:19 a.m. | Last Modified: 25 Aug 2023, 5:19 a.m.
Panel Version: 0.243

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
dystonia 16 MONDO:0012789

Publications

Created: 25 Aug 2023, 5:19 a.m.
Last Modified: 25 Aug 2023, 5:19 a.m.
Panel version: 0.243

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • dystonia 16 MONDO:0012789
OMIM
603424
Clinvar variants
Variants in PRKRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2023, 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 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRKRA were changed from to dystonia 16 MONDO:0012789

29 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRKRA were set to

29 Aug 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKRA was added gene: PRKRA was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: PRKRA was set to Unknown