1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. COL6A2
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

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 7 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.31

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.31

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

the col6 genes are in the Congenital muscular dystrophy panel
Created: 6 Mar 2017, 12:14 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.31

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Mode of inheritance added
Created: 22 Feb 2017, 12:23 p.m.
Overlapping phenotype between Bethlem myopathy (milder) and Ullrich CMD (more severe).
Created: 26 Jan 2017, 10:07 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Bethlem myopathy 1 158810; Ullrich congenital muscular dystrophy 1 254090

Publications

Created: 26 Jan 2017, 10:07 a.m.

Copied from panel: Congenital myopathy v3.31

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • UKGTN
Phenotypes
  • Bethlem myopathy, OMIM:158810
  • Ullrich congenital muscular dystrophy, OMIM:254090
OMIM
120240
Clinvar variants
Variants in COL6A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: COL6A2 was added gene: COL6A2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN,NHS GMS,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Green,London South GLH Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL6A2 were set to 15689448 Phenotypes for gene: COL6A2 were set to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090 Penetrance for gene: COL6A2 were set to Complete