Congenital myopathy
Gene: DOK7
clinical and pathological overlap with CM, minicores on pathologyCreated: 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.
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 minicoresCreated: 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 redCreated: 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.
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
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
Gene: dok7 has been classified as Green List (High Evidence).
Publications for gene: DOK7 were set to 15689448
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
Phenotypes for gene: DOK7 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Phenotypes for gene: DOK7 were changed from to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Publications for gene: DOK7 were set to
Mode of inheritance for gene: DOK7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to DOK7.
gene: DOK7 was added gene: DOK7 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: DOK7 was set to