Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: COL6A2

COL6A2 (collagen type VI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000142173
EnsemblGeneIds (GRCh37): ENSG00000142173
OMIM: 120240, Gene2Phenotype
COL6A2 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM. Numerous variants reported
Created: 26 Jul 2016, 9:38 a.m.

Comment on phenotypes: Numerous variants also reported in Ullrich congenital muscular dystrophy 1 254090 and one in Myosclerosis, congenital 255600
Created: 26 Jul 2016, 9:38 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 26 Jul 2016, 9:38 a.m.

Panel version: 0.89

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 1 158810

OMIM

120240

Clinvar variants

Variants in COL6A2

Penetrance

Complete

Panels with this gene