Congenital muscular dystrophy
Gene: COL6A2
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Expert review green and >3 cases/family reports for different variants.Created: 11 Jan 2017, 12:17 p.m.
Phenotypes
Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090Myosclerosis, congenital, 255600
Publications for gene COL6A2 were changed from to 15689448
Source NHS GMS was added to COL6A2.
Source London South GLH was added to COL6A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for COL6A2 were set to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Phenotypes for COL6A2 were set to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090; Myosclerosis, congenital, 255600
Mode of inheritance for COL6A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for COL6A2 were set to Bethlem myopathy, 158810;Ullrich congenital muscular dystrophy, 254090;Myosclerosis, congenital, 255600
COL6A2 was added to Congenital muscular dystrophypanel. Source:
COL6A2 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
COL6A2 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
COL6A2 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen