Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL9A2
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: 11 Jun 2019, 11:07 a.m.
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: COL9A2; Suggested initial gene rating: redCreated: 3 Apr 2019, 3:41 p.m.
D/W Dr D Johnson, features not fitting with EDS.
HGMD - few mutations reported. Mostly associated with Multiple epiphyseal dysplasia or myopia.Created: 24 Jan 2019, 12:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Stickler syndrome, type V614284; Epiphyseal dysplasia, multiple, 2 600204; Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.
Comment on publications: added publications to support both disordersCreated: 10 May 2017, 2:50 p.m.
Comment on mode of inheritance: Stickler syndrome, type V (AR), Epiphyseal dysplasia, multiple, 2 (AD)Created: 10 May 2017, 2:43 p.m.
Review from Arianna Tucci : On panel as can present with joint laxityCreated: 10 May 2017, 11:11 a.m.
Tag curated_removed tag was added to gene: COL9A2.
Gene: col9a2 has been removed from the panel.
Phenotypes for gene: COL9A2 were changed from Stickler syndrome, type V, (AR), 614284; Epiphyseal dysplasia, multiple, 2, (AD), 600204; Connective Tissue Disorders to Stickler syndrome, type V, (AR), 614284; Epiphyseal dysplasia, multiple, 2, (AD), 600204; Connective Tissue Disorders; Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.
Source NHS GMS was added to COL9A2.
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for COL9A2 were set to Stickler syndrome, type V, (AR), 614284; Epiphyseal dysplasia, multiple, 2, (AD), 600204; Connective Tissue Disorders
Publications for COL9A2 were set to 21671392; 20301479;8528240;10364514;12244547
Mode of inheritance for COL9A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
COL9A2 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Publications for COL9A2 were set to 21671392;20301479
Phenotypes for COL9A2 were set to Stickler syndrome, type V, 614284;Epiphyseal dysplasia, multiple, 2, 600204; Connective Tissue Disorders
Phenotypes for COL9A2 were set to ?Stickler syndrome, type V, 614284; Connective Tissue Disorders
Phenotypes for COL9A2 were set to ?Stickler syndrome, type V, 614284, COL9A2-Related Stickler Syndrome
COL9A2 was added to Ehlers-Danlos syndromespanel. Sources: Expert list
COL9A2 was created by ellenmcdonagh