CHRNA1

cholinergic receptor nicotinic alpha 1 subunit
OMIM: 100690
PanelMode of inheritanceDetails
3 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, 601462Myasthenic syndrome, fast-channel congenital, 608930Multiple pterygium syndrome, lethal type, 253290
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
Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, congenital, 1A, slow-channel, 601462, Myasthenic syndrome, congenital, 1B, fast-channel, 608930, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE, Multiple pterygium syndrome, lethal type, 253290