Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: COL6A3
AMBER for dystonia
GREEN for dystrophy, 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
COL6A3accounts for 18-19% of Collagen VI-Related Dystrophies casesCreated: 4 May 2022, 1:15 a.m. | Last Modified: 4 May 2022, 1:15 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; Dystonia 27 MIM#616411; Ullrich congenital muscular dystrophy 1 MIM#254090
Publications
Variants in this GENE are reported as part of current diagnostic practice
Well established gene.
Sources: Expert listCreated: 12 Jun 2020, 10:33 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bethlem myopathy, MIM#158810; Ullrich congenital muscular dystrophy, MIM#254090
Publications
Gene: col6a3 has been classified as Green List (High Evidence).
Phenotypes for gene: COL6A3 were changed from Bethlem myopathy 1 158810 to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090
Publications for gene: COL6A3 were set to
Mode of inheritance for gene: COL6A3 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
gene: COL6A3 was added gene: COL6A3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL6A3 were set to Bethlem myopathy 1 158810