Limb girdle muscular dystrophyGene: COL6A1
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported in relevant phenotype
Created: 26 Jul 2016, 9:31 a.m.
Comment on phenotypes: Numerous variants also reported in Ullrich congenital muscular dystrophy 1 254090
Created: 26 Jul 2016, 9:30 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Green List (High Evidence).
Phenotypes for COL6A1 were set to Bethlem myopathy 1 158810
COL6A1 was created by sleigh
COL6A1 was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen