Multiple Epiphyseal Dysplasia

Gene: COL9A3

Green List (high evidence)

COL9A3 (collagen type IX alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 16 panels

4 reviews

Christine Burren (University Hospitals Bristol NHS Foundation Trust)

Green List (high evidence)

Sarah Smithson (University Hospitals Bristol NHS Foundation Trust )

Green List (high evidence)

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)

Green List (high evidence)

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
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Dominant
  • Epiphyseal dysplasia, multiple, with myopathy
OMIM
120270
Clinvar variants
Variants in COL9A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL9A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Feb 2016, Gel status: 4

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

5 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL9A3 were set to PMID: 21922596; 20301302; 20301479

5 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL9A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

COL9A3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Expert

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

COL9A3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

COL9A3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services