Multiple Epiphyseal Dysplasia
Gene: COL9A3
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.
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
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
Publications for gene: COL9A3 were set to PMID: 21922596; 20301302; 20301479
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COL9A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for COL9A3 were set to multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, with myopathy
Publications for COL9A3 were set to PMID: 21922596; 20301302; 20301479
Mode of inheritance for COL9A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
COL9A3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Expert
COL9A3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory
COL9A3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services