Multiple Epiphyseal Dysplasia
Gene: COL9A2EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 15 panels
4 reviews
Christine Burren (University Hospitals Bristol NHS Foundation Trust)
Sarah Smithson (University Hospitals Bristol NHS Foundation Trust )
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM, and not on imprinted gene list.Created: 5 Feb 2016, 3:24 p.m.
Michael Briggs (Newcastle University)
To date all COL9A2 mutations in MED are located in the splice donor site of exon 3 which result in the in-frame deletion of 12 amino acids from the COL3 domain of type IX collagen. Pathogenicity is likely to be dominant negative (neo morphic) with disruption either chondrocyte function or extracellular matrix structure/function. COL9A2 mutations are amongst the rarest forms of MED and often cause pronounced epiphyseal dysplasia in the knees whilst the hips are relatively spared. Can be associated with mild myopathy and osteochondritis dissecans.Created: 9 Oct 2015, 5:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
multiple epiphyseal dysplasia
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Epiphyseal dysplasia, multiple, 2, OMIM:600204
- 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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: COL9A2 were set to PMID: 20358595, PMID: 21922596, PMID: 20301302
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL9A2 were changed from multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, 2, 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284 to Epiphyseal dysplasia, multiple, 2, OMIM:600204
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL9A2 were set to multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, 2, 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284
Set publications
Ellen McDonagh (Genomics England Curator)Publications for COL9A2 were set to PMID: 20358595, PMID: 21922596, PMID: 20301302
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL9A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Eik Haraldsdottir (Genomics England)COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Expert
Added New Source
GEL ()COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services