Congenital muscular dystrophy and congenital myopathy

Gene: COL6A1

Helen Brittain (Genomics England Curator) reviewing this gene on the old GMS Congenital myopathy panel notes (rated Green): 'Also causes Ulrich Congenital Muscular Dystrophy. Note that missense mutations / splice mutations that cause in-frame deletions are commonest, although rarely truncating mutations have been reported. Also, the commonest MOI is monoallelic, however biallelic cases are reported.'

Created: 3 Feb 2023, 12:20 p.m. | Last Modified: 3 Feb 2023, 2:20 p.m.

Panel Version: 0.46

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.

Created: 29 Apr 2019, 3:37 p.m.

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

• 25535305
• 15955946
• 23738969

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

Comment when marking as ready: >3 families or cases reported, and expert review green.

Created: 11 Jan 2017, 12:13 p.m.

Comment on mode of inheritance: Some reports of homozygous variants in patients with Ullrich congenital muscular dystrophy 1.

Created: 11 Jan 2017, 12:12 p.m.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Bethlem myopathy; Ullrich Congenital Muscular Dystrophy; Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090{Ossification of the posterior longitudinal spinal ligaments}, 602475 (2)