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  3. TOR1AIP1
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Dystonia - complex

Gene: TOR1AIP1

Red List (low evidence)
TOR1AIP1 (torsin 1A interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000143337
EnsemblGeneIds (GRCh37): ENSG00000143337
OMIM: 614512, Gene2Phenotype
TOR1AIP1 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case with a homozygous variant
Created: 6 Apr 2020, 7:52 a.m. | Last Modified: 6 Apr 2020, 7:52 a.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia; Cerebellar Atrophy; Cardiomyopathy

Publications

Created: 6 Apr 2020, 7:52 a.m.
Last Modified: 6 Apr 2020, 7:52 a.m.
Panel version: 0.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia, cerebellar atrophy, and cardiomyopathy
OMIM
614512
Clinvar variants
Variants in TOR1AIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tor1aip1 has been classified as Red List (Low Evidence).

27 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Red Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1AIP1 were set to 25425325 Phenotypes for gene: TOR1AIP1 were set to Dystonia, cerebellar atrophy, and cardiomyopathy