Congenital myaesthenic syndrome

Gene: CHAT

Green List (high evidence)

CHAT (choline O-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000070748
EnsemblGeneIds (GRCh37): ENSG00000070748
OMIM: 118490, Gene2Phenotype
CHAT is in 5 panels

4 reviews

Louise Daugherty (Genomics England Curator)

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.

Michael Oldridge (NHS)

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

Rebecca Foulger (Genomics England curator)

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.

David Beeson (Oxford University)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
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, 254210
  • Congenital myasthenics sndrome associated with episodic apnea
  • CMS-EA
OMIM
118490
Clinvar variants
Variants in CHAT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CHAT.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to CHAT. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

26 Jan 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210; Congenital myasthenics sndrome associated with episodic apnea; CMS-EA

26 Jan 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for CHAT were set to Myasthenic syndrome, congenital, associated with episodic apnea, 254210; Congenital myasthenics sndrome associated with episodic apnea

26 Jan 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for CHAT were set to 11172068; 12756141

26 Jan 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for CHAT was changed to BIALLELIC, autosomal or pseudoautosomal

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CHAT was added to Congenital myaestheniapanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CHAT was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CHAT was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory