Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL5A2EnsemblGeneIds (GRCh38): ENSG00000204262
EnsemblGeneIds (GRCh37): ENSG00000204262
OMIM: 120190, Gene2Phenotype
COL5A2 is in 7 panels
6 reviews
Ivone Leong (Genomics England Curator)
Comment 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
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
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.
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
Louise Daugherty (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- UKGTN
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Ehlers-Danlos syndrome, classic type, 2, OMIM:130010
- OMIM
- 120190
- Clinvar variants
- Variants in COL5A2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COL5A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
Upload gene information
Louise Daugherty (Genomics England Curator)COL5A2 was added to Ehlers-Danlos syndromespanel. Sources: Eligibility statement prior genetic testing
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Set publications
Louise Daugherty (Genomics England Curator)Publications for COL5A2 were set to 28306229;28192633;9783710;9425231;9425231
Added New Source
Ellen McDonagh (Genomics England Curator)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
Created
Ellen McDonagh (Genomics England Curator)COL5A2 was created by ellenmcdonagh