Congenital myopathy
Gene: COL6A3
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
Publications
Variants in this GENE are reported as part of current diagnostic practice
the col6 genes are in the Congenital muscular dystrophy panelCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
Publications
Many reported cases. Overlapping phenotype between Bethlem myopathy and Ullrich CMD therefore included.Created: 26 Jan 2017, 10:05 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy 1 158810; Dystonia 27 616411; Ullrich congenital muscular dystrophy 1
Publications
Phenotypes for gene: COL6A3 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090
Phenotypes for gene: COL6A3 were changed from Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Source NHS GMS was added to COL6A3.
Source London South GLH was added to COL6A3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Mode of inheritance for COL6A3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for COL6A3 were set to 15689448
COL6A3 was added to Congenital myopathypanel. Sources: UKGTN
COL6A3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
COL6A3 was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory