MUSK

muscle associated receptor tyrosine kinase
OMIM: 601296
PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 3.2
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
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325, Congenital Myasthenic Syndrome, Recessive, Congenital myasthenic syndrome
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency