Neuromuscular arthrogryposis

Gene: MUSK

Green List (high evidence)

MUSK (muscle associated receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000030304
EnsemblGeneIds (GRCh37): ENSG00000030304
OMIM: 601296, Gene2Phenotype
MUSK is in 5 panels

2 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: 28 Apr 2019, 6:36 p.m.

Michael Oldridge (NHS)

Green List (high evidence)

2 families with multiple affecteds, MUSK knockdown mouse model.
Created: 28 Apr 2019, 6:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
208150; FETAL AKINESIA DEFORMATION SEQUENCE; FADS

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • FADS
  • 208150
  • FETAL AKINESIA DEFORMATION SEQUENCE
OMIM
601296
Clinvar variants
Variants in MUSK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MUSK.

28 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MUSK. Rating Changed from Red List (low evidence) to Green List (high evidence)

28 Apr 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: MUSK was added gene: MUSK was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUSK were set to 25537362; 25612909 Phenotypes for gene: MUSK were set to FADS; 208150; FETAL AKINESIA DEFORMATION SEQUENCE