Structural basal ganglia disorders
Gene: TOR1AEnsemblGeneIds (GRCh38): ENSG00000136827
EnsemblGeneIds (GRCh37): ENSG00000136827
OMIM: 605204, Gene2Phenotype
TOR1A is in 10 panels
1 review
Manju Kurian (UCL-Institute of Child Health)
Not usually associated with basal ganglia lesions but some subtle basal ganglia changes (subtle T2-weighted hypo intensity) has been anecdotally reported.Created: 1 Mar 2017, 1:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia-1, torsion, OMIM:128100
- Dystonic disorder, MONDO:0003441
- OMIM
- 605204
- Clinvar variants
- Variants in TOR1A
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- DDG2P
- Arthrogryposis
- Intellectual disability
- Fetal anomalies
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TOR1A were changed from Dystonia-1, torsion 128100 to Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Added New Source
Sarah Leigh (Genomics England Curator)TOR1A was added to Structural basal ganglia disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)TOR1A was added to Structural basal ganglia disorderspanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)TOR1A was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)TOR1A was added to Structural basal ganglia disorderspanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)TOR1A was created by sleigh