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  3. TOR1A
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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 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis multiplex congenita, MIM#618947

Created: 2 Aug 2020, 4:45 a.m.
Last Modified: 2 Aug 2020, 4:45 a.m.
Panel version: 0.196

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

5 families reported by multiple authors supporting that biallelic mutations (missense, inframe del and protein truncating) in TOR1A cause severe arthrogryposis. Other variable features are developmental delay, strabismus and tremor. Parents carriers do not have symptoms of autosomal dominant dystonia, also associate with this gene and known to have incomplete penetrance (OMIM).
Sources: Literature
Created: 6 Jul 2020, 7:25 a.m. | Last Modified: 6 Jul 2020, 9:45 a.m.
Panel Version: 0.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis

Publications

Created: 6 Jul 2020, 7:25 a.m.
Last Modified: 6 Jul 2020, 9:45 a.m.
Panel version: 0.70

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis multiplex congenita, MIM#618947
OMIM
605204
Clinvar variants
Variants in TOR1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TOR1A were changed from Arthrogryposis to Arthrogryposis multiplex congenita, MIM#618947

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Michelle Torres (Victorian Clinical Genetics Services)

gene: TOR1A was added gene: TOR1A was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1A were set to PMID: 30244176 Phenotypes for gene: TOR1A were set to Arthrogryposis Review for gene: TOR1A was set to GREEN