Arthrogryposis
Gene: TOR1AEnsemblGeneIds (GRCh38): ENSG00000136827
EnsemblGeneIds (GRCh37): ENSG00000136827
OMIM: 605204, Gene2Phenotype
TOR1A is in 10 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on list classification: Set rating as Green based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).Created: 10 Dec 2019, 10:17 a.m. | Last Modified: 10 Dec 2019, 10:21 a.m.
Panel Version: 2.119
This gene was added to the panel by Julie Vogt, Dec 6 2019 on behalf of the GMS Neurology Specialist Test Group. Gene Symbol submitted: TOR1A; Suggested initial gene rating: Green; Evidence for inclusion: PMIDs: 30244176, 29053766, 28516161.Created: 10 Dec 2019, 10:14 a.m. | Last Modified: 10 Dec 2019, 10:14 a.m.
Panel Version: 2.113
Julie Vogt (West Midlands Regional Genetics Service)
Sources: Expert listCreated: 7 Dec 2019, 5:47 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
arthrogryposis with developmental delay, strabismus and tremor; dystonia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Arthrogryposis multiplex congenita 5, OMIM:618947
- Arthrogryposis multiplex congenita 5, MONDO:0100218
- Dystonia-1, torsion, OMIM:128100
- Dystonic disorder, MONDO:0003441
- OMIM
- 605204
- Clinvar variants
- Variants in TOR1A
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Intellectual disability
- 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
- Fetal anomalies
- Arthrogryposis
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TOR1A were changed from arthrogryposis with developmental delay, strabismus and tremor; Dystonia-1, torsion, 128100 to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218; Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: tor1a has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: TOR1A were changed from arthrogryposis with developmental delay, strabismus and tremor; dystonia to arthrogryposis with developmental delay, strabismus and tremor; Dystonia-1, torsion, 128100
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: TOR1A were set to PMID: 30244176, 29053766, 28516161
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to TOR1A.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Julie Vogt (West Midlands Regional Genetics Service)gene: TOR1A was added gene: TOR1A was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: TOR1A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TOR1A were set to PMID: 30244176, 29053766, 28516161 Phenotypes for gene: TOR1A were set to arthrogryposis with developmental delay, strabismus and tremor; dystonia Penetrance for gene: TOR1A were set to unknown Review for gene: TOR1A was set to GREEN gene: TOR1A was marked as current diagnostic