Osteogenesis imperfecta
Gene: COL11A2EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 15 panels
5 reviews
Eleanor Williams (Genomics England Curator)
Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04 it was decided to keep this gene red as it is associated with Stickler syndrome which is covered by other panels.Created: 11 Jun 2019, 2:11 p.m.
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL11A2; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Duncan Baker (Sheffield Genetics)
Following discussion with Dr Balasubramanian - rate greenCreated: 3 Apr 2019, 4:14 p.m.
Overlapping phenotypeCreated: 25 Jan 2019, 12:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Otospondylomegaepiphyseal dysplasia 184840
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stickler Syndrome, Type III
Publications
Variants in this GENE are reported as part of current diagnostic practice
Chris Boustred (Genomics England)
Comment when marking as ready: Discussed in MDT, agreed specific Stickler gene not OICreated: 10 May 2016, 12:39 p.m.
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Overlapping featuresCreated: 27 Nov 2015, 3:03 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Stickler Syndrome, Type III
- Otospondylomegaepiphyseal dysplasia 184840
- OMIM
- 120290
- Clinvar variants
- Variants in COL11A2
- Penetrance
- Complete
- Publications
- 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 Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: COL11A2 were changed from Disproportionate Short Stature; Stickler Syndrome, Type III to Disproportionate Short Stature; Stickler Syndrome, Type III; Otospondylomegaepiphyseal dysplasia 184840
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COL11A2.
Set Phenotypes
Chris Boustred (Genomics England)Phenotypes for COL11A2 were set to Disproportionate Short Stature; Stickler Syndrome, Type III
Set Phenotypes
Chris Boustred (Genomics England)Phenotypes for COL11A2 were set to Disproportionate Short Stature Stickler Syndrome, Type III
Set publications
Chris Boustred (Genomics England)Publications for COL11A2 were set to 7859284; 9506662; 15372529
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COL11A2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory