Congenital muscular dystrophy and congenital myopathy

Gene: DOK7

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.

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.

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