This Panel is marked as Internal
Dystonia - childhood onset
Gene: TOR1A
TOR1A (torsin family 1 member A)
EnsemblGeneIds (GRCh38): ENSG00000136827
EnsemblGeneIds (GRCh37): ENSG00000136827
OMIM: 605204, Gene2Phenotype
TOR1A is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000136827
EnsemblGeneIds (GRCh37): ENSG00000136827
OMIM: 605204, Gene2Phenotype
TOR1A is in 10 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
-
- Fetal anomalies
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- Arthrogryposis
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)