Congenital myaesthenic syndrome
Gene: COLQComment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency;Myasthenic syndrome, congenital, 5, 603034Created: 22 Mar 2021, 1:42 p.m. | Last Modified: 22 Mar 2021, 1:42 p.m.
Panel Version: 2.21
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:10441569Created: 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.
see PanelAppCreated: 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
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.
Covered by the Oxford Congenital Myasthenia ServiceCreated: 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
Phenotypes for gene: COLQ were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, OMIM:603034
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
Source NHS GMS was added to COLQ.
Source Wessex and West Midlands GLH was added to COLQ. 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).
This gene has been classified as Green List (High Evidence).
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
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,
Phenotypes for COLQ were set to Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Myasthenic syndrome, congenital, 5, 603034
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.
Mode of inheritance for COLQ was changed to BIALLELIC, autosomal or pseudoautosomal
COLQ was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory
COLQ was added to Congenital myaestheniapanel. Sources: Illumina TruGenome Clinical Sequencing Services