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  3. TOR1AIP1
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Congenital Myasthenia

Gene: TOR1AIP1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family plus mouse model. Variants in this gene also cause a range of other muscle disorders.
Created: 19 Aug 2021, 4:18 a.m. | Last Modified: 19 Aug 2021, 4:19 a.m.
Panel Version: 1.5
Created: 19 Aug 2021, 4:18 a.m.
Last Modified: 19 Aug 2021, 4:19 a.m.
Panel version: 1.3

Gina Ravenscroft (Harry Perkins Institute of Medical Research)

Bi-allelic loss-of-function variants associated with congenital myasthenic syndrome. Also support data of a NMJ defect/maysthenic phenotype in a mouse model.
Patients respond well to pyridostigmine treatment
Created: 19 Aug 2021, 3:44 a.m. | Last Modified: 19 Aug 2021, 3:44 a.m.
Panel Version: 1.3

Phenotypes
Congenital myasthenic syndrome

Publications

Created: 19 Aug 2021, 3:44 a.m.
Last Modified: 19 Aug 2021, 3:44 a.m.
Panel version: 1.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital myasthenic syndrome
OMIM
614512
Clinvar variants
Variants in TOR1AIP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).

19 Aug 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TOR1AIP1 were changed from to Congenital myasthenic syndrome

19 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).

19 Aug 2021, Gel status: 0

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

Gina Ravenscroft (Harry Perkins Institute of Medical Research)

gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Congenital Myasthenia. Sources: Expert Review Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1AIP1 were set to PMID: 34164833 Penetrance for gene: TOR1AIP1 were set to Complete