Structural basal ganglia disorders

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

1 review

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

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 128100
OMIM
605204
Clinvar variants
Variants in TOR1A
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

7 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

TOR1A was added to Structural basal ganglia disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

7 Sep 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

TOR1A was added to Structural basal ganglia disorderspanel. Source: UKGTN

7 Sep 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

TOR1A was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TOR1A was created by sleigh

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TOR1A was added to Structural basal ganglia disorderspanel. Sources: Emory Genetics Laboratory