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Childhood onset dystonia, chorea or related movement disorder

Gene: TOR1A

Green List (high evidence)
TOR1A (torsin family 1 member A)
EnsemblGeneIds (GRCh38): ENSG00000136827
EnsemblGeneIds (GRCh37): ENSG00000136827
OMIM: 605204, Gene2Phenotype
TOR1A is in 10 panels

3 reviews

Eleanor Williams (Genomics England Curator)

The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 6:27 p.m. | Last Modified: 30 Jan 2023, 6:35 p.m.
Panel Version: 2.10
Created: 30 Jan 2023, 6:27 p.m.
Last Modified: 30 Jan 2023, 6:35 p.m.
Panel version: 2.10

Arina Puzriakova (Genomics England Curator)

Dystonia association with monoallelic variants is well-established with multiple cases reported worldwide (OMIM:128100). Biallelic variants cause a more severe phenotype of congenital arthrogryposis (OMIM:618947) and movement impairments including dystonia are also common (PMIDs: 29053766, 30244176). For this reason the MOI should be updated from 'monoallelic' only to 'both mono- and biallelic (biallelic more severe)' at the next GMS review.
Created: 28 Mar 2022, 2:06 p.m. | Last Modified: 28 Mar 2022, 2:06 p.m.
Panel Version: 1.218

Phenotypes
Dystonia-1, torsion, OMIM:128100; Arthrogryposis multiplex congenita 5, OMIM:618947

Created: 28 Mar 2022, 2:06 p.m.
Last Modified: 28 Mar 2022, 2:06 p.m.
Panel version: 1.218

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PanelApp
  • Expert Review Green
  • London North GLH
Phenotypes
  • Dystonia-1, torsion, OMIM:128100
  • Arthrogryposis multiplex congenita 5, OMIM:618947
OMIM
605204
Clinvar variants
Variants in TOR1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q1_22_MOI was removed from gene: TOR1A.

30 Jan 2023, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene TOR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Mar 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TOR1A were changed from Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441 to Dystonia-1, torsion, OMIM:128100; Arthrogryposis multiplex congenita 5, OMIM:618947

28 Mar 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TOR1A were set to 20301334; 11523564; 17503336; 20301665; 9288096; 16537570

28 Mar 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: TOR1A.

28 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TOR1A were changed from Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100 to Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to TOR1A. Mode of inheritance for gene TOR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100 for gene: TOR1A Publications for gene TOR1A were changed from to 20301334; 11523564; 17503336; 20301665; 9288096; 16537570

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TOR1A was added gene: TOR1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: TOR1A was set to