Genomics England

cholinergic receptor nicotinic epsilon subunit

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.21	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
Green in Congenital myaesthenic syndrome 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, 4A, slow-channel, OMIM:605809, Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	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