Ehlers Danlos syndromes

Gene: COL3A1

Green List (high evidence)

COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 11 panels

6 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type IV, 130050;Vascular EDS;vEDS;Ehlers-Danlos Syndrome, Vascular Type;Sack-Barabas syndrome
Created: 18 Mar 2021, 1:44 p.m. | Last Modified: 18 Mar 2021, 1:44 p.m.
Panel Version: 2.21

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: COL3A1; 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)

Comment on publications: Numerous cases (more than 3 unrelated cases) to support vEDS is caused by a variant in COL3A1. PMID: 2243125, 11577371, 19455184, 21637106, 24922459
Created: 13 Apr 2017, 2:54 p.m.
Comment on phenotypes: Amended phenotype, since variants in COL3A1 that result in Vascular EDS are not rare (in comparison with COL1A1)
Created: 13 Apr 2017, 2:13 p.m.
In relation to the EDS pathogenetic scheme, COL3A1 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: 13 Apr 2017, 1:43 p.m.
This gene is listed in the Ehlers Danlos Syndrome Variant Database https://eds.gene.le.ac.uk/home.php?select_db=COL3A1
Created: 13 Apr 2017, 1:39 p.m.
Comment on phenotypes: Updated phenotypes in view of current nomenclature in OMIM and recent paper on EDS classification from 2017 International Classification of the Ehlers–Danlos Syndromes (PMID:28306229), The Ehlers–Danlos Syndromes, rare types (PMID:28306225).
Created: 13 Apr 2017, 1:36 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome, vascular type, OMIM:130050
OMIM
120180
Clinvar variants
Variants in COL3A1
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: COL3A1 were changed from Ehlers Danlos syndrome, type IV, 130050; Vascular EDS; vEDS; Ehlers-Danlos Syndrome, Vascular Type; Sack-Barabas syndrome to Ehlers-Danlos syndrome, vascular type, OMIM:130050

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL3A1. 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.

13 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL3A1 were set to 28306229; 28306225; 28192633; 17211858; 2243125;11577371;19455184;21637106; 24922459

13 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL3A1 were set to Ehlers Danlos syndrome, type IV, 130050; Vascular EDS; vEDS; Ehlers-Danlos Syndrome, Vascular Type; Sack-Barabas syndrome

13 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL3A1 were set to 28306229;28306225;28192633

13 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL3A1 were set to Ehlers Danlos syndrome, type IV, 130050;Vascular EDS (rare); vEDS;Ehlers-Danlos Syndrome, Vascular Type;Sack-Barabas syndrome

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

COL3A1 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Expert Review Green

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL3A1 was created by ellenmcdonagh