Adult onset neurodegenerative disorder
Gene: TOR1A
Primary torsion dystonia (also known as 'idiopathic' torsion dystonia; ITD) usually begins in childhood or adolescence. One main variant - 3bp deletion. Not sure if it is neurodegenerative.Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
primary torsion dystonia (DYT1), early-onset isolated dystonia; Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia
Mode of pathogenicity
Other - please provide details in the comments
Torsion dystonia phenotypeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
primary torsion dystonia (DYT1), early-onset isolated dystonia; Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Phenotypes for gene: TOR1A were changed from primary torsion dystonia (DYT1), early-onset isolated dystonia; Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia to Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441
Source Expert Review Red was added to TOR1A. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to TOR1A.
Source Yorkshire and North East GLH was added to TOR1A.
Source NHS GMS was added to TOR1A.
Source London North GLH was added to TOR1A.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes primary torsion dystonia (DYT1), early-onset isolated dystonia; Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia for gene: TOR1A
gene: TOR1A was added gene: TOR1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TOR1A were set to 17503336; 16537570; 11523564; 9288096; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301665 Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia