Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: COL6A2

Green List (high evidence)

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

COL6A2 accounts for 44-46% of Collagen VI-Related Dystrophies cases

Created: 4 May 2022, 1:12 a.m. | Last Modified: 4 May 2022, 1:13 a.m.

Panel Version: 0.13673

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

Phenotypes
Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090

Publications

• 20301676

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

Green List (high evidence)

Well established gene.
Sources: Expert list

Created: 12 Jun 2020, 10:35 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090

Publications

• 15689448