Ehlers Danlos syndromesGene: COL2A1
Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.
Created: 31 Jul 2019, 11:20 a.m. | Last Modified: 31 Jul 2019, 11:20 a.m.
Panel Version: 1.61
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: COL2A1; Suggested initial gene rating: red
Created: 3 Apr 2019, 3:41 p.m.
d/w Dr D Johnson. Not enough phenotypic overlap for EDS panel
Created: 24 Jan 2019, 12:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on publications: added publications to represent the more wider context of this panel concerning connective tissue disorders
Created: 10 May 2017, 1:11 p.m.
Comment from Allan richards (University of Cambridge) regarding Stickler Syndrome: Splice site mutations and missense substitutions of Glycines within the Gly-Xaa-Yaa repeating amino acid sequence of the collagen are pathogenic.
Created: 10 May 2017, 1:08 p.m.
Review from Arianna Tucci : On panel as can present with joint laxity
Created: 10 May 2017, 10:33 a.m.
Tag curated_removed tag was added to gene: COL2A1.
Gene: col2a1 has been removed from the panel.
Source NHS GMS was added to COL2A1. 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 COL2A1 were set to 16752401; 20513134; 10486316; 25240749; 20301479;
Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for COL2A1 were set to 16752401; 20513134; 10486316; 25240749; 20301479
COL2A1 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Publications for COL2A1 were set to 16752401;20513134; 10486316; 25240749
Phenotypes for COL2A1 were set to Stickler syndrome, type I, 108300; Connective Tissue Disorders; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Phenotypes for COL2A1 were set to Stickler syndrome, type I, 108300;Connective Tissue Disorders
Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL2A1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list,Emory Genetics Laboratory
COL2A1 was created by ellenmcdonagh