Ehlers Danlos syndromes

Gene: COL5A2

Green List (high evidence)

COL5A2 (collagen type V alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204262
EnsemblGeneIds (GRCh37): ENSG00000204262
OMIM: 120190, Gene2Phenotype
COL5A2 is in 9 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 type
Created: 18 Mar 2021, 1:46 p.m. | Last Modified: 18 Mar 2021, 1:46 p.m.
Panel Version: 2.23

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: COL5A2; 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)

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=COL5A2
Created: 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

18 Mar 2021, Gel status: 3

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

13 Mar 2019, Gel status: 3

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)

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.

7 Jul 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

COL5A2 was added to Ehlers-Danlos syndromespanel. Sources: Eligibility statement prior genetic testing

10 Apr 2017, Gel status: 4

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

10 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL5A2 were set to 28306229;28192633;9783710;9425231;9425231

24 Jan 2017, Gel status: 4

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

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL5A2 was created by ellenmcdonagh