CHRND

cholinergic receptor nicotinic delta subunit
OMIM: 100720
PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 3A, slow-channel 616321, ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323, Multiple pterygium syndrome, lethal type 253290, Myasthenic syndrome, congenital, 3B, fast-channel 616322
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, slow-channel congenital, 601462, Slow channel myasthenic syndrome, fast channel myasthenic syndrome, Acetylcholine receptor deficiency syndrome, ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321, ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323, Myasthenic syndrome, congenital, 3B, fast-channel, 616322
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Several associated, probably most relevant is lethal multiple pterygium syndrome 253290