Inherited bleeding disorders
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Other
- Phenotypes
-
- Avascular necrosis of the femoral head
- feature of hereditary thrombophilia
- Legg-Calve-Perthes disease
- OMIM
- 120140
- Clinvar variants
- Variants in COL2A1
- Penetrance
- Complete
- Panels with this gene
-
- Stickler syndrome
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Osteogenesis imperfecta
- Fetal hydrops
- DDG2P
- Fetal anomalies
- Intellectual disability
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection (GMS)
- Monogenic hearing loss
- Limb disorders
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Glaucoma (developmental)
- Retinal disorders
- Clefting
History Filter Activity
19 Dec 2016, Gel status: 0
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
19 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)COL2A1 was created by ellenmcdonagh
19 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)COL2A1 was added to Inherited bleeding disorderspanel. Sources: Other