CHRNB1

cholinergic receptor nicotinic beta 1 subunit
OMIM: 100710
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 6.0
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
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.5
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314, Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314, CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 2A, slow-channel, 616313, ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314