CHAT

Green CHAT in Other rare neuromuscular disorders

Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

Sources

• Expert Review Green

Phenotypes

• Myasthenic syndrome, congenital, 6, presynaptic, 254210
• CMS-EA
• Congenital myasthenics sndrome associated with episodic apnea

Green CHAT in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.29
Latest signed off version: v5.0 (22 Mar 2023)

Sources

• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory
• Expert list

Phenotypes

• Myasthenic syndrome, congenital, associated with episodic apnea, 254210

Green CHAT in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Wessex and West Midlands GLH
• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory

Phenotypes

• Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210

Green CHAT in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE Additional Gene List
• Expert Review Green

Phenotypes

• Myasthenic syndrome, congenital, 6, presynaptic 254210

Green CHAT in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Myasthenic syndrome, congenital, 6, presynaptic, 254210