CHRNE

cholinergic receptor nicotinic epsilon subunit
OMIM: 100725
PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 4.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 4A, slow-channel 605809, Myasthenic syndrome, congenital, 4B, fast-channel 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809, Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
R-numbers: R21, R412
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 4A, slow-channel, 605809, Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931