Aortopathy_Connective Tissue Disorders

Gene: COL6A3

Amber List (moderate evidence)

COL6A3 (collagen type VI alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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

Naomi Baker (Victorian Clinical Genetics Services)

Green List (high evidence)

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: Literature
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Bethlem myopathy 1 MIM #158810
  • Ullrich congenital muscular dystrophy 1 MIM #254090
OMIM
120250
Clinvar variants
Variants in COL6A3
Penetrance
Complete
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col6a3 has been classified as Amber List (Moderate Evidence).

8 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col6a3 has been classified as Amber List (Moderate Evidence).

8 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Naomi Baker (Victorian Clinical Genetics Services)

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