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Fetal anomalies

Gene: COL6A3

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease associations, joint contractures are a feature.

Note bi-allelic variants in this gene are also associated with dystonia, typically with a later presentation.
Created: 22 Nov 2021, 1:24 a.m. | Last Modified: 22 Nov 2021, 1:24 a.m.
Panel Version: 0.587

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Bethlem myopathy 1, MIM# 158810
  • Ullrich congenital muscular dystrophy 1, MIM# 254090
OMIM
120250
Clinvar variants
Variants in COL6A3
Penetrance
None
Panels with this gene

History Filter Activity

22 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col6a3 has been classified as Green List (High Evidence).

22 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL6A3 were changed from DYSTONIA 27; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 to Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090

22 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL6A3 was added gene: COL6A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A3 were set to DYSTONIA 27; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1