CHRNB1

cholinergic receptor nicotinic beta 1 subunit
OMIM: 100710
PanelMode of inheritanceDetails
2 panels
R-numbers: R83
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, slow-channel congenital, 601462
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314, Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome, Myasthenic syndrome, slow-channel congenital, 601462, Congenital Myasthenic Syndrome, Dominant/Recessive