Skeletal dysplasia
Gene: COL11A2The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:33 p.m. | Last Modified: 3 Aug 2022, 3:33 p.m.
Panel Version: 2.208
In type 2 collagen gp of SD. Only 2 cases reported with variants in Fibrochondrogenesis 2 614524 - one AR, one AD. Amber for this phenotype. Green for other recessive phenotypes.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fibrochondrogenesis 2 614524?; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type III 184840
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 6 Mar 2022, 7:01 p.m. | Last Modified: 6 Mar 2022, 7:01 p.m.
Panel Version: 2.186
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: COL11A2; 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, 9:28 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 13 Jul 2016, 8:13 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Fibrochondrogenesis 2 614524; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type III 184840; Weissenbacher-Zweymuller syndrome 277610
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene COL11A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Stickler syndrome, type III 184840; Otospondylomegaepiphyseal dysplasia 215150; Fibrochondrogenesis 2 614524? for gene: COL11A2
Source NHS GMS was added to COL11A2. 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 COL11A2 were set to Fibrochondrogenesis 2 614524; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type III 184840; Weissenbacher-Zweymuller syndrome 277610
COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red Model of inheritance for gene COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal
COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: UKGTN COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
COL11A2 was added to Unexplained skeletal dysplasiapanel. Sources:
COL11A2 was created by sleigh