1. Panels
  2. Dystonia - isolated/combined
  3. TOR1A
STRs in panel
Prev Next
Regions in panel
Prev Next

Dystonia - isolated/combined

Gene: TOR1A

Green List (high evidence)
TOR1A (torsin family 1 member A)
EnsemblGeneIds (GRCh38): ENSG00000136827
EnsemblGeneIds (GRCh37): ENSG00000136827
OMIM: 605204, Gene2Phenotype
TOR1A is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. A 3-bp deletion, GAG (delE302/303) is common in individuals from different ethnic backgrounds.
Created: 28 Oct 2020, 10:16 a.m. | Last Modified: 28 Oct 2020, 10:16 a.m.
Panel Version: 0.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia-1, torsion, MIM#128100

Publications

Created: 28 Oct 2020, 10:16 a.m.
Last Modified: 28 Oct 2020, 10:16 a.m.
Panel version: 0.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal dominant or sporadic dystonia (DYT1)
  • Early-Onset Primary Dystonia
  • Dystonia-1, torsion, 128100
OMIM
605204
Clinvar variants
Variants in TOR1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tor1a has been classified as Green List (High Evidence).

28 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TOR1A were set to

27 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TOR1A was added gene: TOR1A was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TOR1A were set to Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100