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Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL6A1

COL6A1 (collagen type VI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000142156
EnsemblGeneIds (GRCh37): ENSG00000142156
OMIM: 120220, Gene2Phenotype
COL6A1 is in 8 panels

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 3:44 p.m.

Panel version: 1.43

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.

Created: 3 Apr 2019, 3:41 p.m.

Panel version: 1.42

Angela Brady (Nhs)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Created: 7 Jul 2017, 6:28 p.m.

Panel version: 0.401

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

Created: 25 Apr 2017, 3:16 p.m.

Panel version: 0.165

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

26 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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