Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL9A2EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 15 panels
5 reviews
Eleanor Williams (Genomics England Curator)
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.
Duncan Baker (Sheffield Genetics)
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.
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
Louise Daugherty (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- 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.
- Tags
- OMIM
- 120260
- Clinvar variants
- Variants in COL9A2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Clefting
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: COL9A2.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: col9a2 has been removed from the panel.
Set Phenotypes
Eleanor Williams (Genomics England Curator)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.
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COL9A2.
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.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL9A2 were set to Stickler syndrome, type V, (AR), 614284; Epiphyseal dysplasia, multiple, 2, (AD), 600204; Connective Tissue Disorders
Set publications
Louise Daugherty (Genomics England Curator)Publications for COL9A2 were set to 21671392; 20301479;8528240;10364514;12244547
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for COL9A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Upload gene information
Louise Daugherty (Genomics England Curator)COL9A2 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Set publications
Louise Daugherty (Genomics England Curator)Publications for COL9A2 were set to 21671392;20301479
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL9A2 were set to Stickler syndrome, type V, 614284;Epiphyseal dysplasia, multiple, 2, 600204; Connective Tissue Disorders
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL9A2 were set to ?Stickler syndrome, type V, 614284; Connective Tissue Disorders
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL9A2 were set to ?Stickler syndrome, type V, 614284, COL9A2-Related Stickler Syndrome
Added New Source
Ellen McDonagh (Genomics England Curator)COL9A2 was added to Ehlers-Danlos syndromespanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)COL9A2 was created by ellenmcdonagh