Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL1A1Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS (rare);cEDS;Ehlers-Danlos syndrome, type VIIA, 130060;Arthrochalasia EDS;aEDS;Vascular EDS (rare);vEDSCreated: 18 Mar 2021, 1:39 p.m. | Last Modified: 18 Mar 2021, 1:39 p.m.
Panel Version: 2.19
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: COL1A1; Suggested initial gene rating: greenCreated: 3 Apr 2019, 3:41 p.m.
In relation to the EDS pathogenetic scheme, COL1A1 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, 3:13 p.m.
Comment on publications: Added publications for evidence of gene-phenotype relationship to reflect current classification of EDS.
Created: 10 Apr 2017, 3:11 p.m.
This is a rare dominant form of classical EDS, leading to Arg to Cys substitution, the more prevalent forms relate to variants in COL5A1 and COL5A2Created: 10 Apr 2017, 1:21 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) and Ehlers-Danlos syndrome, classical type (PMID:28192633)Created: 10 Apr 2017, 12:57 p.m.
Phenotypes for gene: COL1A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS (rare); cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS to Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
Source NHS GMS was added to COL1A1. 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.
Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS (rare); cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS
Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS
Publications for COL1A1 were set to 28306229; 28306225; 28192633; 17211858; 10739762; 23587214; 2559765; 18409203; 9295084; 1867198
Publications for COL1A1 were set to 28306229;28306225;28192633;17211858;10739762;23587214;2559765;18409203; 9295084;1867198;
Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Ehlers-Danlos syndrome, type 7A; Arthrochalasia EDS (rare); aEDS; Vascular EDS (rare); vEDS;Arterial-Ecchymotic EDS
Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Ehlers-Danlos syndrome, type 7A; Arthrochalasia EDS (rare); aEDS; Vascular EDS (rare); vEDS
Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS (rare); aEDS; Vascular EDS (rare); vEDS; Ehlers-Danlos syndrome, type 7A
Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS (rare); aEDS; Vascular EDS (rare); vEDS
Publications for COL1A1 were set to 28306229;28306225;28192633
Phenotypes for COL1A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome, type VIIA, 130060;Arthrochalasia EDS;aEDS;
Publications for COL1A1 were set to
Phenotypes for COL1A1 were set to Ehlers-Danlos Syndrome, Classic; Ehlers Danlos syndrome, type I, 130000; Ehlers Danlos syndrome, type VIIA, 130060
Publications for COL1A1 were set to 28306229
Phenotypes for COL1A1 were set to Ehlers-Danlos Syndrome, Classic ; Ehlers Danlos syndrome, type I, 130000; Ehlers Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS, (aEDS)
COL1A1 was created by ellenmcdonagh
COL1A1 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Green