CHAT

choline O-acetyltransferase
OMIM: 118490
PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, associated with episodic apnea, 254210
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 6, presynaptic, 254210, Congenital myasthenics sndrome associated with episodic apnea, CMS-EA
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 6, presynaptic 254210