Multiple Epiphyseal Dysplasia

Gene: COL9A2

Green List (high evidence)

COL9A2 (collagen type IX alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 17 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: Confirmed on G2P and OMIM, and not on imprinted gene list.
Created: 5 Feb 2016, 3:24 p.m.

Michael Briggs (Newcastle University)

Green List (high evidence)

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

History Filter Activity

27 Oct 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: COL9A2 were set to PMID: 20358595, PMID: 21922596, PMID: 20301302

27 Oct 2021, Gel status: 3

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

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: 3

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

5 Feb 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL9A2 were set to PMID: 20358595, PMID: 21922596, PMID: 20301302

5 Feb 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL9A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services