Osteogenesis imperfecta
Gene: COL2A1
COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels
4 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Conditions caused by COL2A1 wouldn't present with pathological fractures as the primary feature so not appropriate for this panel.Created: 16 May 2016, 2:18 p.m.
Raymond Dalgleish (University of Leicester)
I know of no evidence for COL2A1 being an OI gene. The gene has been studied for ages and the evidence would have emerged by now.Created: 8 Dec 2015, noon
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
?Overlapping featuresCreated: 27 Nov 2015, 3:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
There is good evidence to support a causal role of this gene in Stickler syndrome, Spondyloepiphyseal Dysplasia Congenita and Achondrogenesis type II, as well as other skeletal dysplasias.Created: 28 Sep 2015, 1:32 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 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
- Disproportionate Short Stature
- OMIM
- 120140
- Clinvar variants
- Variants in COL2A1
- Penetrance
- Complete
- Panels with this gene
-
- Limb disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Retinal disorders
- DDG2P
- Clefting
- Stickler syndrome
- Osteogenesis imperfecta
- Fetal hydrops
- Bilateral congenital or childhood onset cataracts
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Intellectual disability
History Filter Activity
16 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
20 Jul 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)COL2A1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)COL2A1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen