Limb girdle muscular dystrophy

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 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM. At least three variants reported
Created: 26 Jul 2016, 9:46 a.m.
Comment on phenotypes: Three variants reported each in Ullrich congenital muscular dystrophy 1 254090 and Dystonia 27 616411
Created: 26 Jul 2016, 9:45 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Bethlem myopathy 1 158810
OMIM
120250
Clinvar variants
Variants in COL6A3
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

26 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COL6A3 were set to Bethlem myopathy 1 158810

26 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COL6A3 were set to Bethlem myopathy 1 158810

26 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Jul 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

COL6A3 was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

26 Jul 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

COL6A3 was created by sleigh