Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL3A1The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 4:19 p.m. | Last Modified: 1 Feb 2023, 4:19 p.m.
Panel Version: 2.68
Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type IV, 130050;Vascular EDS;vEDS;Ehlers-Danlos Syndrome, Vascular Type;Sack-Barabas syndromeCreated: 18 Mar 2021, 1:44 p.m. | Last Modified: 18 Mar 2021, 1:44 p.m.
Panel Version: 2.21
Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be changed to Both mono and biallelic following GMS review.Created: 28 Sep 2022, 9:30 p.m. | Last Modified: 28 Sep 2022, 10:08 p.m.
Panel Version: 2.66
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: greenCreated: 3 Apr 2019, 3:41 p.m.
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, 24922459Created: 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=COL3A1Created: 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.
Tag Q3_22_MOI was removed from gene: COL3A1. Tag Q3_22_expert_review was removed from gene: COL3A1.
Mode of inheritance for gene COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_22_expert_review tag was added to gene: COL3A1.
Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q3_22_MOI tag was added to gene: COL3A1.
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
Source NHS GMS was added to COL3A1. 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.
Publications for COL3A1 were set to 28306229; 28306225; 28192633; 17211858; 2243125;11577371;19455184;21637106; 24922459
Phenotypes for COL3A1 were set to Ehlers Danlos syndrome, type IV, 130050; Vascular EDS; vEDS; Ehlers-Danlos Syndrome, Vascular Type; Sack-Barabas syndrome
Publications for COL3A1 were set to 28306229;28306225;28192633
Phenotypes for COL3A1 were set to Ehlers Danlos syndrome, type IV, 130050;Vascular EDS (rare); vEDS;Ehlers-Danlos Syndrome, Vascular Type;Sack-Barabas syndrome
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
COL3A1 was created by ellenmcdonagh