Congenital 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

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.

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

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Expert review green and >3 cases/family reports.
Created: 11 Jan 2017, 12:19 p.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Bethlem myopathy, 158810
  • Ullrich congenital muscular dystrophy, 254090
OMIM
120250
Clinvar variants
Variants in COL6A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene COL6A3 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 COL6A3.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to COL6A3. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

11 Jan 2017, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL6A3 were set to Bethlem myopathy, 158810;Ullrich congenital muscular dystrophy, 254090

11 Jan 2017, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL6A3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

COL6A3 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

COL6A3 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL6A3 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL6A3 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen