Congenital myaesthenic syndrome

Gene: CHAT

Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 6, presynaptic, 254210;Congenital myasthenics sndrome associated with episodic apnea;CMS-EA

Created: 22 Mar 2021, 1:10 p.m. | Last Modified: 22 Mar 2021, 1:10 p.m.

Panel Version: 2.12

I don't know

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.

Created: 30 Apr 2019, 9:30 a.m.

Green List (high evidence)

see PanelApp

Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Comment when marking as ready: Expert review Green plus >3 unrelated cases of CHAT causing congenital Myasthenic syndrome (OMIM:254210).

Created: 26 Jan 2017, 2:12 p.m.

Comment on publications: PMID:11172068 (Ohno et al., 2001) report 10 recessive mutations in five patients (four male, one female) causing myasthenic syndrome (CMS-EA, OMIM:254210). Although not stated, assumed the patients are unrelated since they assess other relatives (Patient 2 had three affected siblings, and patient 4 had two) and the mutations are diverse. PMID:12756141 (Kraner et al., 2003) present an additional case of a homozygous CHAT mutation in a Turkish family with two affected siblings.

Created: 26 Jan 2017, 2:09 p.m.

Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.

Created: 26 Jan 2017, 1:51 p.m.

Green List (high evidence)

Covered nationally by the Oxford Congenital Myasthenia Service

Created: 24 Jan 2017, 4:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenics sndrome associated with episodic apnea

Publications

• PMID: 11172068

Variants in this GENE are reported as part of current diagnostic practice