Arthrogryposis
Gene: TOR1AComment 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
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
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
Gene: tor1a has been classified as Green List (High Evidence).
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
Publications for gene: TOR1A were set to PMID: 30244176, 29053766, 28516161
Source NHS GMS was added to TOR1A.
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