Multiple Epiphyseal Dysplasia
Gene: COL2A1Comment on mode of inheritance: Not on the imprinted gene list.Created: 5 Feb 2016, 3:11 p.m.
Comment on list classification: Demoted from green to red due to reviewer comments.Created: 5 Feb 2016, 3:10 p.m.
Most COL2A1-related phenotypes involve the spine in the dysplasia and have more than just epiphyseal involvement-apart from isolated bilateral necrosis of the capital femoral epiphyses which is distinct from MED.Created: 2 Dec 2015, 10:47 a.m.
Mode of pathogenicity
Other
Phenotype associated with COL2A1 does not sit within MED, as Skeletal involvement is more extensive beyond the epiphyses.Created: 2 Dec 2015, 10:44 a.m.
Mode of pathogenicity
Other
Mutations in COL2A1 have been reported in two families with a non-typical form of MED. Both mutations affected conserved glycine residues and are located in exon 50 (p.Gly1179Arg and p.Gly1176Val). In both families it was noted that there were features not normally associated with MED such as short trunk and severely fragmented hip epiphyses with adjacent metaphyseal anomalies. This would suggest that there is some clinical and radiographic overlap between MED and mild SED congenital (SEDc).Created: 9 Oct 2015, 10:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
multiple epiphyseal dysplasia
Publications
Mode of pathogenicity
Other
This gene has been classified as Red List (Low Evidence).
Phenotypes for COL2A1 were set to Multiple epiphyseal dysplasiais; Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Spondyloperipheral dysplasia, 271700; SED, Namaqualand type; Osteoarthritis with mild chondrodysplasia, 604864; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Platyspondylic skeletal dysplasia, Torrance type, 151210; Otospondylomegaepiphyseal dysplasia, 215150; Avascular necrosis of the femoral head, 608805; Legg-Calve-Perthes disease, 150600; Stickler sydrome, type I, nonsyndromic ocular, 609508; Czech dysplasia, 609162
Publications for COL2A1 were set to PMID: 21922596
Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
COL2A1 was added to Multiple Epiphyseal Dysplasiapanel. Sources: UKGTN
COL2A1 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen
COL2A1 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory