Ehlers Danlos syndromes

Gene: COL6A1

Green List (high evidence)

COL6A1 (collagen type VI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000142156
EnsemblGeneIds (GRCh37): ENSG00000142156
OMIM: 120220, Gene2Phenotype
COL6A1 is in 10 panels

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL6A1; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

I don't know

Gene added due to comment from Dr Anthony Vandersteen, IWK Health centre in Halifax, Nova Scotia, Canada : 'Collagen (XII) was categorised as myopathic EDS In latest classification, only a small number of families, if one was to include this, then COL6A1, COL6A2 and COL6A3 should also be included.'
Created: 26 Apr 2017, 9:02 a.m.
Comment on list classification: changed status from amber to green based evidence in the literature
Created: 26 Apr 2017, 9:01 a.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases
Created: 26 Apr 2017, 9:01 a.m.
Comment on phenotypes: Bethlem Myopathy and Ullrich congenital muscular dystrophy clinically overlap with Myopathic EDS
Created: 26 Apr 2017, 9 a.m.
COL6A1 phenotype (collagen VI-related Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy) clinically overlaps with myopathic EDS.
Created: 25 Apr 2017, 3:37 p.m.
Comment on publications: ecent papers on EDS classification : The 2017 International Classification of the Ehlers–Danlos Syndromes. Malfait et al., 2017 (PMID:28306229) and Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225).
Created: 25 Apr 2017, 3:24 p.m.

Mode of inheritance
Unknown

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Bethlem myopathy 1,OMIM:158810
  • Ullrich congenital muscular dystrophy 1, OMIM:254090
OMIM
120220
Clinvar variants
Variants in COL6A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL6A1 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL6A1. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

10 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL6A1 were set to Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS

26 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

26 Apr 2017, Gel status: 0

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL6A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Apr 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL6A1 were set to 28306229; 28306225;8782832;9580662;11865138;12840783;16130093;16130093

26 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL6A1 were set to Bethlem myopathy 1,158810;Ullrich congenital muscular dystrophy 1,254090

25 Apr 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL6A1 were set to 28306229;28306225

25 Apr 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

COL6A1 was created by LouiseD

25 Apr 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

COL6A1 was added to Ehlers-Danlos syndromespanel. Sources: Literature