Early onset dystonia
Gene: PRKRA
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
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
Comment on list classification: Unreplicated since 'discovery' in 2008Created: 27 May 2016, 9:26 a.m.
Publications for PRKRA were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26990861; 25737287; 25142429; 25914261; 22842711; 18243799; 24142417; 18420150;26990861
Phenotypes for PRKRA were set to Dystonia; Dystonia 16, 612067;early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
Mode of inheritance for PRKRA was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for PRKRA were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/;26990861; 25737287; 25142429; 25914261; 22842711; 18243799; 24142417; 18420150
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.
This gene has been classified as Red List (Low Evidence).
Publications for PRKRA were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene PRKRA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PRKRA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PRKRA was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PRKRA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PRKRA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PRKRA was added to Early onset dystoniapanel. Sources: Expert
PRKRA was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
PRKRA was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services