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  3. COL6A1
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Molecular autopsy

Gene: COL6A1

Green List (high evidence)
COL6A1 (collagen type VI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000142156
EnsemblGeneIds (GRCh37): ENSG00000142156
OMIM: 120220, Gene2Phenotype
COL6A1 is in 8 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bethlem myopathy, 158810
  • Ullrich congenital muscular dystrophy, 254090
OMIM
120220
Clinvar variants
Variants in COL6A1
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: COL6A1 was added gene: COL6A1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: COL6A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL6A1 were set to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090