Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: COL6A1

COL6A1 (collagen type VI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000142156
EnsemblGeneIds (GRCh37): ENSG00000142156
OMIM: 120220, Gene2Phenotype
COL6A1 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

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

Created: 26 Jul 2016, 9:31 a.m.

Panel version: 0.87

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

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

Phenotypes

Bethlem myopathy 1, OMIM:158810
Ullrich congenital muscular dystrophy 1, OMIM:254090

OMIM

120220

Clinvar variants

Variants in COL6A1

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: COL6A1 were changed from Bethlem myopathy 1 158810 to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090

27 Jul 2016, Gel status: 4