Multiple Epiphyseal Dysplasia
Gene: COL11A2EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 15 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: For the Otospondylomegaepiphyseal dysplasia phenotype.Created: 5 Feb 2016, 3:07 p.m.
Comment on list classification: Demoted from green to red due to reviewer's comments.Created: 5 Feb 2016, 3:06 p.m.
Sarah Smithson (University Hospitals Bristol NHS Foundation Trust )
Epiphyseal dysplasia associated with COL11A2 has been linked with more complex phenotypes such as OSMED and Weissenbacher-Zweymuller syndrome.Created: 2 Dec 2015, 10:39 a.m.
Mode of pathogenicity
Other
Christine Burren (University Hospitals Bristol NHS Foundation Trust)
Mutations in COL11A2 are not part of the MED genotype.Created: 2 Dec 2015, 10:37 a.m.
Mode of pathogenicity
Other
Michael Briggs (Newcastle University)
There is no published evidence that a mutation in COL11A2 causes radiographically confirmed MED. This gene should really be removed from any list.Created: 9 Oct 2015, 9:24 a.m.
Mode of inheritance
Unknown
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Stickler syndrome, type III, 184840
- Otospondylomegaepiphyseal dysplasia, 215150
- Weissenbacher-Zweymuller syndrome, 277610
- Deafness, autosomal dominant 13, 601868
- Deafness, autosomal recessive 53, 609706
- Fibrochondrogenesis 2, 614524
- Otospondylomegaepiphyseal Dysplasia
- OMIM
- 120290
- Clinvar variants
- Variants in COL11A2
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Clefting
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL11A2 were set to Stickler syndrome, type III, 184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524; Otospondylomegaepiphyseal Dysplasia
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL11A2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()COL11A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()COL11A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: UKGTN
Added New Source
GEL ()COL11A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen