Congenital myaesthenic syndrome

Gene: RYR1

Red List (low evidence)

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.

I don't know

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 interpret

Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 24951453