Aortopathy_Connective Tissue Disorders
Gene: COL6A3
The phenotype is primarily that of a myopathy.Created: 8 Jul 2020, 6:10 a.m. | Last Modified: 8 Jul 2020, 6:10 a.m.
Panel Version: 0.143
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Both loss-of-function and dominant negative mechanism has been reported for this gene. Mutations result in a spectrum of disease, ranging from the milder Bethlem myopathy (monoallelic) to the more severe Ullrich congenital muscular dystrophy (biallelic) (PMID: 29277723; 24443028).
Sources: LiteratureCreated: 8 Jul 2020, 12:08 a.m.
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
Mode of pathogenicity
Other
Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Gene: col6a3 has been classified as Amber List (Moderate Evidence).
gene: COL6A3 was added gene: COL6A3 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: COL6A3 were set to PMID: 29277723; 24443028. Phenotypes for gene: COL6A3 were set to Bethlem myopathy 1 MIM #158810; Ullrich congenital muscular dystrophy 1 MIM #254090 Penetrance for gene: COL6A3 were set to Complete Mode of pathogenicity for gene: COL6A3 was set to Other Review for gene: COL6A3 was set to GREEN