Congenital myopathy

Gene: DOK7

Green List (high evidence)

DOK7 (docking protein 7)
EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 10 panels

3 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

clinical and pathological overlap with CM, minicores on pathology
Created: 5 Dec 2019, 2:40 p.m. | Last Modified: 5 Dec 2019, 2:40 p.m.
Panel Version: 1.223
this gene was included in the viapath HSS diagnostic panel in view of the relevant clinical overlap between CMS due to DOK7, congenital myopathies and LGMD. DOK7 gene mutations do not cause Congenital myopathy.
Created: 30 May 2019, 4:47 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Upgraded rating from Red to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81 -some patients have a muscle biopsy and some minicores
Created: 5 Dec 2019, 4:47 p.m. | Last Modified: 5 Dec 2019, 4:47 p.m.
Panel Version: 1.233
Updated review from Anna Sarkozy as a result of GLH Test Group prior to sign off this is not a CMY gene - rate red
Created: 3 Dec 2019, 2:54 p.m. | Last Modified: 3 Dec 2019, 2:54 p.m.
Panel Version: 1.198
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 208150; Myasthenic syndrome, congenital, 10 254300

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • Fetal akinesia deformation sequence, 208150
  • Myasthenic syndrome, congenital, 10, 254300
OMIM
610285
Clinvar variants
Variants in DOK7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: dok7 has been classified as Green List (High Evidence).

16 Oct 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DOK7 were set to 15689448

3 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DOK7 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Fetal akinesia deformation sequence, 208150; Myasthenic syndrome, congenital, 10, 254300

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DOK7 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DOK7 were changed from to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DOK7 were set to

30 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DOK7.

30 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DOK7 was added gene: DOK7 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: DOK7 was set to