Congenital myaesthenic syndrome
Gene: CHATComment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 6, presynaptic, 254210;Congenital myasthenics sndrome associated with episodic apnea;CMS-EACreated: 22 Mar 2021, 1:10 p.m. | Last Modified: 22 Mar 2021, 1:10 p.m.
Panel Version: 2.12
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.
see PanelAppCreated: 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.
Covered nationally by the Oxford Congenital Myasthenia ServiceCreated: 24 Jan 2017, 4:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenics sndrome associated with episodic apnea
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CHAT were changed from Myasthenic syndrome, congenital, 6, presynaptic, 254210; Congenital myasthenics sndrome associated with episodic apnea; CMS-EA to Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210
Source NHS GMS was added to CHAT.
Source Wessex and West Midlands GLH was added to CHAT. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210; Congenital myasthenics sndrome associated with episodic apnea; CMS-EA
Phenotypes for CHAT were set to Myasthenic syndrome, congenital, associated with episodic apnea, 254210; Congenital myasthenics sndrome associated with episodic apnea
Publications for CHAT were set to 11172068; 12756141
Mode of inheritance for CHAT was changed to BIALLELIC, autosomal or pseudoautosomal
CHAT was added to Congenital myaestheniapanel. Sources: UKGTN
CHAT was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen
CHAT was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory