Muscular dystrophy and myopathy_Paediatric
Gene: COL6A1
Normal or increased CK in both.Created: 2 Jun 2022, 4:43 a.m. | Last Modified: 2 Jun 2022, 4:43 a.m.
Panel Version: 0.113
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 casesCreated: 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
Gene: col6a1 has been classified as Green List (High Evidence).
Phenotypes for gene: COL6A1 were changed from to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090
Publications for gene: COL6A1 were set to
Mode of inheritance for gene: COL6A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
gene: COL6A1 was added gene: COL6A1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL6A1 was set to Unknown