Genomics England
GMS Panels
Panels
Genes and Entities

CHAT

choline O-acetyltransferase
OMIM: 118490
PanelMode of inheritanceDetails
3 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 7.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, associated with episodic apnea, 254210
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 6, presynaptic 254210