Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL5A2Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis typeCreated: 18 Mar 2021, 1:46 p.m. | Last Modified: 18 Mar 2021, 1:46 p.m.
Panel Version: 2.23
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: COL5A2; Suggested initial gene rating: greenCreated: 3 Apr 2019, 3:41 p.m.
In relation to the EDS pathogenetic scheme, COL5A2 belongs to 'Disorders of collagen primary structure and collagen processing'. The scheme regroups EDS subtypes for which the proteins, coded by the causative genes, function within the same pathway, and which are likely to have shared pathogenic mechanisms, based on current knowledge.Created: 10 Apr 2017, 10:25 a.m.
This gene is listed in the Ehlers Danlos Syndrome Variant Database https://eds.gene.le.ac.uk/home.php?select_db=COL5A2Created: 10 Apr 2017, 10:21 a.m.
Comment on phenotypes: Updated phenotypes in view of current nomenclature in OMIM and recent paper on EDS classification (PMID:28306229)Created: 10 Apr 2017, 10:20 a.m.
Comment on publications: Comment on publications: Added publications for evidence of gene-phenotype relationship to reflect current classification of EDS and summary of current knowledge of Classical EDS. Malfait et al., 2017 (PMID: 28306229), Bowen et al., 2017 (PMID: 28192633). Cases with classical EDS with a variant in COL5A2 (PMID: 9783710, 9425231,9425231)Created: 10 Apr 2017, 10:12 a.m.
Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 2, OMIM:130010
Source NHS GMS was added to COL5A2. 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.
COL5A2 was added to Ehlers-Danlos syndromespanel. Sources: Eligibility statement prior genetic testing
Phenotypes for COL5A2 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
Publications for COL5A2 were set to 28306229;28192633;9783710;9425231;9425231
COL5A2 was added to Ehlers-Danlos syndromespanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
COL5A2 was created by ellenmcdonagh