Aortopathy_Connective Tissue Disorders
Gene: COL6A3EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
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
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
-
- Cerebral Palsy
- Muscular dystrophy and myopathy_Paediatric
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Arthrogryposis
- Mendeliome
- Eye Anterior Segment Abnormalities
- Dystonia - isolated/combined
- BabyScreen+ newborn screening
- Aortopathy_Connective Tissue Disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col6a3 has been classified as Amber List (Moderate Evidence).
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