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 8 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.

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

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

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

Details

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

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL6A2.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to COL6A2. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

22 Feb 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for COL6A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

2 Feb 2017, Gel status: 3

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for COL6A2 were set to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090

2 Feb 2017, Gel status: 3

Set publications

Helen Brittain (Genomics England Curator)

Publications for COL6A2 were set to 15689448

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

COL6A2 was added to Congenital myopathypanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

COL6A2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

COL6A2 was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory