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  3. MUSK
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Congenital Myasthenia

Gene: MUSK

Green List (high evidence)
MUSK (muscle associated receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000030304
EnsemblGeneIds (GRCh37): ENSG00000030304
OMIM: 601296, Gene2Phenotype
MUSK is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

27 previously published individuals reviewed in PMID 32253145: nonsense, frameshift or splicing mutations showed earlier onset (10/13 vs 2/14 neonatal onset, p = 0.0018) and more occurrence of vocal cord paralysis or stridor (8/13 vs 0/14, p = 0.0006), indicating a more severe phenotype.
Created: 24 Oct 2020, 2:46 a.m. | Last Modified: 24 Oct 2020, 2:46 a.m.
Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325

Publications

Created: 24 Oct 2020, 2:46 a.m.
Last Modified: 24 Oct 2020, 2:46 a.m.
Panel version: 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325
Tags
treatable
OMIM
601296
Clinvar variants
Variants in MUSK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: MUSK.

24 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: musk has been classified as Green List (High Evidence).

24 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MUSK were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MUSK was added gene: MUSK was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325