Congenital myaesthenic syndrome
Gene: MUSKComment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325;Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndromeCreated: 22 Mar 2021, 1:59 p.m. | Last Modified: 22 Mar 2021, 1:59 p.m.
Panel Version: 2.27
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.
see PanelAppCreated: 29 Apr 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome
Comment when marking as ready: Green review plus >3 cases of MUSK mutations (OMIM and additional literature) causing Congenital Myasthenic Syndrome (OMIM:616325).Created: 26 Jan 2017, 5:16 p.m.
Added 'Deletions' tag based on PMID:24183479 (Gallenmuller et al., 2014) who identified a genomic deletion affecting exons 2-3 of MUSK, in compound heterozygosity with an additional mutation in two Turkish brothers.Created: 26 Jan 2017, 5:15 p.m.
3 unrelated cases of MUSK mutations causing congenital Myasthenic syndrome (OMIM:616325) on OMIM, plus literature cited by reviewer. E.g. PMID:24183479 (Gallenmüller et al., 2014) identified a novel missense mutation (p.Asp38Glu) heteroallelic to a genomic deletion affecting exons 2-3 of MUSK as cause of a limb-girdle CMS in two brothers of Turkish origin.Created: 26 Jan 2017, 5:14 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 26 Jan 2017, 5:07 p.m.
Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325
Source NHS GMS was added to MUSK.
Source Wessex and West Midlands GLH was added to MUSK. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Publications for MUSK were set to 15496425; 16550915; 23326516; 24183479; 19949040
Mode of inheritance for MUSK was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome
MUSK was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory
MUSK was added to Congenital myaestheniapanel. Sources: Illumina TruGenome Clinical Sequencing Services
MUSK was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen