GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: COL2A1EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Type 2 collagen group of disorders.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Achondrogenesis, type II or hypochondrogenesis 200610; Avascular necrosis of the femoral head 608805; Czech dysplasia 609162; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Osteoarthritis with mild chondrodysplasia 604864; Otospondylomegaepiphyseal dysplasia 215150; Platyspondylic skeletal dysplasia, Torrance type 151210; SED congenita 183900; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Spondyloperipheral dysplasia 271700; Stickler sydrome, type I, nonsyndromic ocular 609508; Stickler syndrome, type I 108300
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Epiphyseal dysplasia, multiple, with myopia and deafness 132450
- Spondyloepiphyseal dysplasia, Stanescu type 616583
- Stickler sydrome, type I, nonsyndromic ocular 609508
- Achondrogenesis, type II or hypochondrogenesis 200610
- Kniest dysplasia 156550
- Legg-Calve-Perthes disease 150600
- Otospondylomegaepiphyseal dysplasia 215150
- Stickler syndrome, type I 108300
- SMED Strudwick type 184250
- Spondyloperipheral dysplasia 271700
- Platyspondylic skeletal dysplasia, Torrance type 151210
- Czech dysplasia 609162
- SED congenita 183900
- Osteoarthritis with mild chondrodysplasia 604864
- Avascular necrosis of the femoral head 608805
- OMIM
- 120140
- Clinvar variants
- Variants in COL2A1
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Thoracic aortic aneurysm or dissection (GMS)
- Clefting
- Limb disorders
- Structural eye disease
- Stickler syndrome
- Skeletal dysplasia
- Fetal hydrops
- Ehlers Danlos syndrome with a likely monogenic cause
- Retinal disorders
- Osteogenesis imperfecta
- Multiple Epiphyseal Dysplasia
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: COL2A1 was added gene: COL2A1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COL2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL2A1 were set to Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Spondyloepiphyseal dysplasia, Stanescu type 616583; Stickler sydrome, type I, nonsyndromic ocular 609508; Achondrogenesis, type II or hypochondrogenesis 200610; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type I 108300; SMED Strudwick type 184250; Spondyloperipheral dysplasia 271700; Platyspondylic skeletal dysplasia, Torrance type 151210; Czech dysplasia 609162; SED congenita 183900; Osteoarthritis with mild chondrodysplasia 604864; Avascular necrosis of the femoral head 608805