MUSK

muscle associated receptor tyrosine kinase
OMIM: 601296
PanelMode of inheritanceDetails
3 panels
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
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
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