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  3. PRKRA
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Early onset dystonia

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

3 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

Removed 'watchlist' tag after promoting the gene to green.
Created: 15 Dec 2016, 11:22 a.m.
Comment on list classification: Promoted to green after feedback from Arianna Tucci.
Created: 15 Dec 2016, 11:20 a.m.
See comments for this gene on the Parkinson gene panel.
Created: 3 Nov 2016, 3:28 p.m.
A "Dominant" mode of inheritance was collected from the Illumina source, whereas "AR" (autosomal recessive) was submitted in the expert list.
Created: 16 Jul 2015, 1:53 p.m.

Publications

Created: 15 Dec 2016, 11:22 a.m.

Panel version: 1.6

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Comment from the Parkinson panel: Biallelic mutations cause early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa. PMID: 26990861 (1 family, 3 affected with childhood onset generalized dystonia with mild parkinsonian signs including bradykinesia, cognitive impairment); 25737287 (1 brazilian family comp het with early onset pure dystonia); 25142429 (1 polish family with early-onset generalized dystonia and mild parkinsonism), 18243799 (2 unrelated families with young onset generalised dystonia with some parkinsonism). Keep this gene in both this gene to both the dystonia panel and pd.
Created: 15 Dec 2016, 11:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa

Publications

Created: 15 Dec 2016, 11:10 a.m.

Panel version: 1.1

Ellen Thomas (Genomics England Curator)

Comment on list classification: Unreplicated since 'discovery' in 2008
Created: 27 May 2016, 9:26 a.m.
Created: 27 May 2016, 9:26 a.m.

Panel version: 0.26

Details

Mode of Inheritance
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
OMIM
603424
Clinvar variants
Variants in PRKRA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PRKRA were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26990861; 25737287; 25142429; 25914261; 22842711; 18243799; 24142417; 18420150;26990861

15 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PRKRA were set to Dystonia; Dystonia 16, 612067;early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa

15 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PRKRA was changed to BIALLELIC, autosomal or pseudoautosomal

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Dec 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PRKRA were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/;26990861; 25737287; 25142429; 25914261; 22842711; 18243799; 24142417; 18420150

17 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

27 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 May 2016, Gel status: 1

Set publications

Ellen Thomas (Genomics England Curator)

Publications for PRKRA were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/

27 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

16 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PRKRA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PRKRA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PRKRA was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PRKRA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PRKRA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PRKRA was added to Early onset dystoniapanel. Sources: Expert

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

PRKRA was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PRKRA was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services