Congenital muscular dystrophy
Gene: COL6A2

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

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.

Created: 29 Apr 2019, 3:37 p.m.

Panel version: 1.43

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

15689448

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

Created: 29 Apr 2019, 3:27 p.m.

Panel version: 1.24

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Expert review green and >3 cases/family reports for different variants.
Created: 11 Jan 2017, 12:17 p.m.

Created: 11 Jan 2017, 12:17 p.m.

Panel version: 0.59

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090Myosclerosis, congenital, 255600

Created: 19 Dec 2016, 11:47 a.m.

Panel version: 0.0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
London South GLH
Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
UKGTN

Phenotypes

Bethlem myopathy, 158810
Ullrich congenital muscular dystrophy, 254090

OMIM

120240

Clinvar variants

Variants in COL6A2

Penetrance

Complete

Publications

15689448

Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene COL6A2 were changed from to 15689448

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL6A2.

29 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)

27 Jan 2017, Gel status: 4