Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL6A3
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: COL6A3; Suggested initial gene rating: greenCreated: 3 Apr 2019, 3:41 p.m.
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 publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated casesCreated: 26 Apr 2017, 9:01 a.m.
Comment on list classification: changed status from amber to green based evidence in the literatureCreated: 26 Apr 2017, 9:01 a.m.
Comment on phenotypes: Bethlem Myopathy and Ullrich congenital muscular dystrophy clinically overlap with Myopathic EDSCreated: 26 Apr 2017, 9 a.m.
COL6A3 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: recent 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, 3:25 p.m.
Phenotypes for gene: COL6A3 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
Source NHS GMS was added to COL6A3. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for COL6A3 were set to Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090;Myopathic EDS
Publications for COL6A3 were set to 28306229; 28306225;9536084;17886299;19949035;15563506;11992252;19564581
Mode of inheritance for COL6A3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for COL6A3 were set to Bethlem myopathy 1,158810;Ullrich congenital muscular dystrophy 1,254090
Publications for COL6A3 were set to 28306229;28306225
COL6A3 was created by LouiseD
COL6A3 was added to Ehlers-Danlos syndromespanel. Sources: Literature