Multiple Epiphyseal Dysplasia
Gene: COL9A3EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 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: Biallelic mutations may cause Stickler syndrome.Created: 5 Feb 2016, 3:43 p.m.
Comment on list classification: Confirmed DD gene for multiple epiphyseal dysplasia type 3.Created: 5 Feb 2016, 3:38 p.m.
Michael Briggs (Newcastle University)
To date most COL9A3 mutations are located in the splice acceptor 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 to either chondrocyte function or extracellular matrix structure/function. COL9A3 mutations are amongst the rarest forms of MED and often cause pronounced epiphyseal dysplasia in the knees whilst the hips are relatively spared. May be associated with mild myopathy and osteochondritis dissecans. Note: autosomal recessive Stickler syndrome can be caused by loss of function mutations in COL9A3.Created: 9 Oct 2015, 5:13 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
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
- OMIM
- 120270
- Clinvar variants
- Variants in COL9A3
- 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
- Congenital myopathy
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL9A3 were changed from multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, with myopathy to Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: COL9A3 were set to PMID: 21922596; 20301302; 20301479
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL9A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL9A3 were set to multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, with myopathy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for COL9A3 were set to PMID: 21922596; 20301302; 20301479
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL9A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)COL9A3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Expert
Added New Source
GEL ()COL9A3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()COL9A3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services