Skeletal dysplasia
Gene: COL11A2EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 15 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The 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
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Stickler syndrome, type III 184840
- Otospondylomegaepiphyseal dysplasia 215150
- Fibrochondrogenesis 2 614524?
- Fibrochondrogenesis 2 614524
- Weissenbacher-Zweymuller syndrome 277610
- OMIM
- 120290
- Clinvar variants
- Variants in COL11A2
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Retinal disorders
- DDG2P
- Clefting
- Stickler syndrome
- Osteogenesis imperfecta
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Intellectual disability
History Filter Activity
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene COL11A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Stickler syndrome, type III 184840; Otospondylomegaepiphyseal dysplasia 215150; Fibrochondrogenesis 2 614524? for gene: COL11A2
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COL11A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for COL11A2 were set to Fibrochondrogenesis 2 614524; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type III 184840; Weissenbacher-Zweymuller syndrome 277610
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)COL11A2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red Model of inheritance for gene COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)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
Added New Source
Sarah Leigh (Genomics England Curator)COL11A2 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)COL11A2 was created by sleigh