Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: COL6A1

Green List (high evidence)

COL6A1 (collagen type VI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000142156
EnsemblGeneIds (GRCh37): ENSG00000142156
OMIM: 120220, Gene2Phenotype
COL6A1 is in 11 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established association

Genereviews PMID:20301676

AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes

AR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly

COL6A1 accounts for 35-38% of Collagen VI-Related Dystrophies cases
Created: 4 May 2022, 12:53 a.m. | Last Modified: 4 May 2022, 1:11 a.m.
Panel Version: 0.13671

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene.
Sources: Expert list
Created: 12 Jun 2020, 10:38 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Bethlem myopathy MIM#158810
  • Ullrich congenital muscular dystrophy MIM#254090
OMIM
120220
Clinvar variants
Variants in COL6A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: col6a1 has been classified as Green List (High Evidence).

17 Apr 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: COL6A1 were changed from Bethlem myopathy 1 158810 to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090

17 Apr 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: COL6A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

17 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: COL6A1 were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: COL6A1 was added gene: COL6A1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: COL6A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL6A1 were set to Bethlem myopathy 1 158810