Skeletal dysplasia
Gene: COL9A3
Multiple epiphyseal dysplasia & pseudoachondroplasia gp of SD. At least 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MED; multiple epiphyseal dysplasia 3, with or without myopathy - 600969
Comment on mode of inheritance: Updated in-line with reviewer's recommendations and OMIMCreated: 8 May 2019, 2:03 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL9A3; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:29 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Three variants reported in Epiphyseal dysplasia, multiple, 3 600969 and one in Intervertebral disc disease, susceptibility to, 603932.Created: 13 Jul 2016, 8:32 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epiphyseal dysplasia, multiple, 3 600969; Epiphyseal dysplasia, multiple, with myopathy
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COL9A3 were changed from MED; multiple epiphyseal dysplasia; Epiphyseal dysplasia, multiple, with myopathy; Stickler syndrome type VI; multiple epiphyseal dysplasia 3, with or without myopathy - 600969; Multiple Epiphyseal Dysplasia, Dominant; Mutiple Epiphyseal Dysplasia to Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
Mode of inheritance for gene: COL9A3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes MED; multiple epiphyseal dysplasia 3, with or without myopathy - 600969 for gene: COL9A3
Source NHS GMS was added to COL9A3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COL9A3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red Model of inheritance for gene COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal
COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Expert COL9A3 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
COL9A3 was added to Unexplained skeletal dysplasiapanel. Sources:
COL9A3 was created by sleigh