Dystonia - childhood onset

Gene: TOR1A

Green List (high evidence)

TOR1A (torsin family 1 member A)
EnsemblGeneIds (GRCh38): ENSG00000136827
EnsemblGeneIds (GRCh37): ENSG00000136827
OMIM: 605204, Gene2Phenotype
TOR1A is in 9 panels

0 reviews

Details

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

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: TOR1A was added gene: TOR1A was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOR1A were set to 16537570; 9288096; 20301665; 20301334; 17503336; 11523564 Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Early-Onset Primary Dystonia; Autosomal dominant or sporadic dystonia (DYT1)