Congenital myaesthenic syndrome
Gene: DOK7Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 10, 254300;Myasthenia, limb-girdle, familial;Limb girdle congenital myasthenic syndromeCreated: 22 Mar 2021, 1:44 p.m. | Last Modified: 22 Mar 2021, 1:44 p.m.
Panel Version: 2.22
PMID: 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300); PMID:17452375;22661499;18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.Created: 10 May 2019, 11:07 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
Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial; Limb girdle congenital myasthenic syndrome
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, 9:11 a.m.
Comment when marking as ready: Green review plus >3 cases of DOK7 mutations causing Congenital Myasthenic Syndrome-10 (OMIM:254300).Created: 26 Jan 2017, 4:29 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed in OMIM.Created: 26 Jan 2017, 4:22 p.m.
Causes a congenital myasthenic syndrome predominantly affecting proximal muscle groups. Variable age of onset.
Covered by the Oxford Congenital Myasthenia ServiceCreated: 24 Jan 2017, 5:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Limb girdle congenital myasthenic syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: DOK7 were set to 16917026; 17452375; 22661499; 18626973
Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial; Limb girdle congenital myasthenic syndrome to Myasthenic syndrome, congenital, 10, OMIM:254300
Publications for gene: DOK7 were set to 16917026; 17452375; 22661499; 18626973
Publications for gene: DOK7 were set to 16917026; 17452375; 22661499
Publications for gene: DOK7 were set to 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300); 17452375; 22661499; 18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.
Source NHS GMS was added to DOK7.
Source Wessex and West Midlands GLH was added to DOK7. 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).
Publications for DOK7 were set to 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300); 17452375; 22661499; 18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.
Publications for DOK7 were set to 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300); 17452375; 22661499; 18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.
Publications for DOK7 were set to 16917026 (Beeson et al., 2006); 17452375; 22661499
Mode of inheritance for DOK7 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for DOK7 were set to 16917026; 17452375; 22661499
Phenotypes for DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial; Limb girdle congenital myasthenic syndrome
DOK7 was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen
DOK7 was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory
DOK7 was added to Congenital myaestheniapanel. Sources: UKGTN