Skeletal dysplasia
Gene: COL9A2
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V 614284; Epiphyseal dysplasia, multiple, 2 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284
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: COL9A2; 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. Four variants reported in Epiphyseal dysplasia, multiple, 2 600204 and one each in the other phenotypes.Created: 13 Jul 2016, 8:28 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V 614284; Epiphyseal dysplasia, multiple, 2 600204
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COL9A2 were changed from Epiphyseal dysplasia, multiple, 2 600204; Stickler syndrome, type V 614284; Stickler syndrome, type V, 614284; {Intervertebral disc disease, susceptibility to}, 603932 to Stickler syndrome, type V, OMIM:614284; Epiphyseal dysplasia, multiple, 2, OMIM:600204
Added phenotypes Epiphyseal dysplasia, multiple, 2 600204; Stickler syndrome, type V 614284; Stickler syndrome, type V, 614284; {Intervertebral disc disease, susceptibility to}, 603932 for gene: COL9A2
Source NHS GMS was added to COL9A2. 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).
Phenotypes for COL9A2 were set to Stickler syndrome, type V 614284; Epiphyseal dysplasia, multiple, 2 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284
Mode of inheritance for COL9A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal
COL9A2 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services COL9A2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL9A2 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen COL9A2 was added to Unexplained skeletal dysplasiapanel. Source: Expert COL9A2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COL9A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
COL9A2 was added to Unexplained skeletal dysplasiapanel. Sources:
COL9A2 was created by sleigh