Congenital myaesthenic syndrome

Gene: MUSK

Green List (high evidence)

MUSK (muscle associated receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000030304
EnsemblGeneIds (GRCh37): ENSG00000030304
OMIM: 601296, Gene2Phenotype
MUSK is in 6 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

see PanelApp
Created: 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

Rebecca Foulger (Genomics England curator)

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.

David Beeson (Oxford University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325
  • Congenital Myasthenic Syndrome, Recessive
  • Congenital myasthenic syndrome
Tags
deletions
OMIM
601296
Clinvar variants
Variants in MUSK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MUSK.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to MUSK. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

26 Jan 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MUSK were set to 15496425; 16550915; 23326516; 24183479; 19949040

26 Jan 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for MUSK was changed to BIALLELIC, autosomal or pseudoautosomal

26 Jan 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

MUSK was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

MUSK was added to Congenital myaestheniapanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MUSK was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen