Multiple Epiphyseal Dysplasia
Gene: COL9A2
Comment on mode of inheritance: Confirmed on G2P and OMIM, and not on imprinted gene list.Created: 5 Feb 2016, 3:24 p.m.
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
Publications for gene: COL9A2 were set to PMID: 20358595, PMID: 21922596, PMID: 20301302
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
This gene has been classified as Green List (High Evidence).
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
Publications for COL9A2 were set to PMID: 20358595, PMID: 21922596, PMID: 20301302
Mode of inheritance for COL9A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Expert
COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen
COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory
COL9A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services