Genomics England
GMS Panels
Panels
Genes and Entities

MUSK

muscle associated receptor tyrosine kinase
OMIM: 601296
PanelMode of inheritanceDetails
3 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence 208150, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency