Congenital myaesthenic syndrome

Gene: DOK7

Green List (high evidence)

DOK7 (docking protein 7)
EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 9 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.

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, 10, 254300; Myasthenia, limb-girdle, familial; Limb girdle congenital myasthenic syndrome

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, 9:11 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.

David Beeson (Oxford University)

Green List (high evidence)

Causes a congenital myasthenic syndrome predominantly affecting proximal muscle groups. Variable age of onset.

Covered by the Oxford Congenital Myasthenia Service
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Myasthenic syndrome, congenital, 10, 254300
  • Myasthenia, limb-girdle, familial
  • Limb girdle congenital myasthenic syndrome
Tags
treatable
OMIM
610285
Clinvar variants
Variants in DOK7
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: DOK7 were set to 16917026; 17452375; 22661499; 18626973

10 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DOK7 were set to 16917026; 17452375; 22661499

10 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

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.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DOK7.

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 DOK7. 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 publications

Rebecca Foulger (Genomics England curator)

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.

26 Jan 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

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.

26 Jan 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for DOK7 were set to 16917026 (Beeson et al., 2006); 17452375; 22661499

26 Jan 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for DOK7 was changed to BIALLELIC, autosomal or pseudoautosomal

26 Jan 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for DOK7 were set to 16917026; 17452375; 22661499

26 Jan 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial; Limb girdle congenital myasthenic syndrome

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

DOK7 was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

DOK7 was added to Congenital myaestheniapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

DOK7 was added to Congenital myaestheniapanel. Sources: UKGTN