Congenital myaesthenic syndrome
Gene: RYR1
Leave as Red, awaiting more information on this gene and potential disease association. From Orphanet review: GeneReview PMID: 30808424 : Primary myopathies may go along with secondary transmission disease, which does not represent congential CMS, such as in patients with congenital myopathy due to TPM2 mutations, or patients carrying mutations in KLHL40, BIN1, DNM2, MTM1, TPM3, or RYR1. Importantly, secondary transmission disease frequently responds beneficially to AchEI.Created: 16 Oct 2019, 11:46 a.m. | Last Modified: 16 Oct 2019, 1:03 p.m.
Panel Version: 1.57
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.
Illingworth et al - comp het in 2 sibs, strong response to pyridostigmine. Majority of mutns lead to other phenotypes eg myopathy, malignant hyperhermia, both AD and AR - would be difficult to interpretCreated: 29 Apr 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes for gene: RYR1 were changed from RYR1-related congenital myopathy with fatigable weakness to RYR1-related congenital myopathy
Publications for gene: RYR1 were set to 24951453; 30808424; 30406384
Publications for gene: RYR1 were set to 24951453; 30808424
Phenotypes for gene: RYR1 were changed from to RYR1-related congenital myopathy with fatigable weakness
Publications for gene: RYR1 were set to 24951453
Publications for gene: RYR1 were set to
Mode of inheritance for gene: RYR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to RYR1.
gene: RYR1 was added gene: RYR1 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RYR1 was set to