Congenital myaesthenic syndrome

Gene: TOR1AIP1

Amber List (moderate evidence)

TOR1AIP1 (torsin 1A interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000143337
EnsemblGeneIds (GRCh37): ENSG00000143337
OMIM: 614512, Gene2Phenotype
TOR1AIP1 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Info from Tracy Lester: TOR1AIP1 – should be amber on R80, not red, there is an unpublished case.
Created: 2 Dec 2019, 11 a.m. | Last Modified: 2 Dec 2019, 11 a.m.
Panel Version: 1.74
Applicable to panel, but currently not enough evidence to support Amber/Green rating
Created: 16 Oct 2019, 1:15 p.m. | Last Modified: 16 Oct 2019, 1:15 p.m.
Panel Version: 1.60
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

I don't know

David Beeson info - TOR1AIP1: No other reports, but fatiguable muscle weakness, decrement on EMG, decrement on EMG and fatiguable muscle weakness in mouse model harbouring same mutation. Recessive. Present in siblings. No other cases reported for myasthenic syndrome.
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072
OMIM
614512
Clinvar variants
Variants in TOR1AIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

16 Oct 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TOR1AIP1 were set to

16 Oct 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TOR1AIP1 were changed from to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072

29 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: TOR1AIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TOR1AIP1.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TOR1AIP1 was set to