Congenital myaesthenic syndromeGene: TOR1AIP1
Comment on list classification: Info from Tracy Lester: TOR1AIP1 – should be amber on R80, not red, there is an unpublished case.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.
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
Gene: tor1aip1 has been classified as Amber List (Moderate Evidence).
Publications for gene: TOR1AIP1 were set to
Phenotypes for gene: TOR1AIP1 were changed from to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072
Mode of inheritance for gene: TOR1AIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to TOR1AIP1.
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