Congenital myopathy
Gene: DOK7

DOK7 (docking protein 7)
EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 8 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.

Created: 30 May 2019, 4:47 p.m.

Panel version: 1.223

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.

Created: 30 Apr 2019, 10:09 a.m.

Panel version: 1.232

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

16917026

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

Created: 30 Apr 2019, 10:05 a.m.

Panel version: 1.158

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
London South GLH

Phenotypes

Fetal akinesia deformation sequence 3, OMIM:618389
Myasthenic syndrome, congenital, 10, OMIM:254300

OMIM

610285

Clinvar variants

Variants in DOK7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence, 208150; Myasthenic syndrome, congenital, 10, 254300 to Fetal akinesia deformation sequence 3, OMIM:618389; Myasthenic syndrome, congenital, 10, OMIM:254300

5 Dec 2019, Gel status: 3