Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: COL6A3

COL6A3 (collagen type VI alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM. At least three variants reported
Created: 26 Jul 2016, 9:46 a.m.

Comment on phenotypes: Three variants reported each in Ullrich congenital muscular dystrophy 1 254090 and Dystonia 27 616411
Created: 26 Jul 2016, 9:45 a.m.

Created: 26 Jul 2016, 9:46 a.m.

Panel version: 0.93

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Bethlem myopathy, OMIM:158810
Ullrich congenital muscular dystrophy, OMIM:254090

OMIM

120250

Clinvar variants

Variants in COL6A3

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COL6A3 were changed from Bethlem myopathy 1 158810 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090

27 Jul 2016, Gel status: 4