Congenital myaesthenic syndrome

Gene: COLQ

Green List (high evidence)

COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)
EnsemblGeneIds (GRCh38): ENSG00000206561
EnsemblGeneIds (GRCh37): ENSG00000206561
OMIM: 603033, Gene2Phenotype
COLQ is in 4 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

PMID:10665486;9689136;18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages;PMID:10441569
Created: 10 May 2019, 11:12 a.m.
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
Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Myasthenic syndrome, congenital, 5, 603034

Rebecca Foulger (Genomics England curator)

Added 'treatable' tag based on information in PMID:26870666: pyridostigmine (the drug most frequently used for treatment of congential myaesthenia (CMS) is not effective or is even detrimental in DOK7- and COLQ-related CMS, while beta-adrenergic agonists (ephedrine, salbutamol) show some sustained benefit. Also in 'Actionable Gene Panel'.
Created: 9 Feb 2017, 9:10 a.m.
Comment when marking as ready: 1 green review plus >3 unrelated cases of COLQ mutations causing congenital myaesthenia. Not yet a DD-G2P confirmed gene, but plenty of literature evidence.
Created: 31 Jan 2017, 2:48 p.m.
Comment on list classification: Updated rating from Amber to Green: 1 green review plus >3 unrelated cases of COLQ mutations causing congenital myaesthenia.
Created: 31 Jan 2017, 2:48 p.m.
Multiple reports of COLQ mutations causing congenital myasthenic syndrome (OMIM:603034): see PMID:9689136, 9758617, 10441569 and 18180250.
Created: 31 Jan 2017, 2:47 p.m.
Comment on mode of inheritance: Mode of inheritance supported by OMIM.
Created: 31 Jan 2017, 2:39 p.m.

David Beeson (Oxford University)

Green List (high evidence)

Covered by the Oxford Congenital Myasthenia Service
Created: 25 Jan 2017, 5:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency

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
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
  • Myasthenic syndrome, congenital, 5, 603034
Tags
treatable
OMIM
603033
Clinvar variants
Variants in COLQ
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: COLQ were set to 10665486; 9689136; PMID:18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages; 10441569

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COLQ.

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 COLQ. 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.

31 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).

31 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).

31 Jan 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for COLQ were set to 10665486; 9689136; PMID:18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages; 10441569

31 Jan 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for COLQ were set to 10665486; 9689136; PMID:18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages; 10441569,

31 Jan 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for COLQ were set to Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Myasthenic syndrome, congenital, 5, 603034

31 Jan 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for COLQ were set to 10665486; 9689136; PMID:18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages.

31 Jan 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

COLQ was added to Congenital myaestheniapanel. Sources: Illumina TruGenome Clinical Sequencing Services