Multiple Epiphyseal Dysplasia
Gene: COL11A2Comment 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.
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
Mutations in COL11A2 are not part of the MED genotype.Created: 2 Dec 2015, 10:37 a.m.
Mode of pathogenicity
Other
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
This gene has been classified as Red List (Low Evidence).
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
Mode of inheritance for COL11A2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
COL11A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services
COL11A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: UKGTN
COL11A2 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen