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Fetal anomalies

Gene: COL6A2

Green List (high evidence)

COL6A2 (collagen type VI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000142173
EnsemblGeneIds (GRCh37): ENSG00000142173
OMIM: 120240, Gene2Phenotype
COL6A2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, joint contractures are a feature.
Created: 22 Nov 2021, 1:21 a.m. | Last Modified: 22 Nov 2021, 1:21 a.m.
Panel Version: 0.586

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
120240
Clinvar variants
Variants in COL6A2
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: col6a2 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: COL6A2 were changed from Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810 to Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090

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: COL6A2 was added gene: COL6A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810