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Arthrogryposis

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

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)

Green List (high evidence)

Sources: Expert list
Created: 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
Phenotypes
  • arthrogryposis with developmental delay, strabismus and tremor
  • Dystonia-1, torsion, 128100
OMIM
605204
Clinvar variants
Variants in TOR1A
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

10 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tor1a has been classified as Green List (High Evidence).

10 Dec 2019, Gel status: 0

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

10 Dec 2019, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TOR1A were set to PMID: 30244176, 29053766, 28516161

10 Dec 2019, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TOR1A.

7 Dec 2019, Gel status: 0

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