Monogenic short stature
Gene: COL2A1EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 20 panels
1 review
Melissa Connolly (WMRGL GLH)
Gene included in a list of the ten most prevalent genetic causes of isolated short stature (Supplementary information 4). Text references reports of isolated short stature.
Sources: Expert ReviewCreated: 17 Sep 2026, 1:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; KNIEST DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE; SPONDYLOPERIPHERAL DYSPLASIA
Publications
- PMID: 41543979
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
- KNIEST DYSPLASIA
- SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
- SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE
- SPONDYLOPERIPHERAL DYSPLASIA
- OMIM
- 120140
- Clinvar variants
- Variants in COL2A1
- Penetrance
- Complete
- Publications
-
- PMID: 41543979
- Panels with this gene
-
- Monogenic short stature
- Stickler syndrome
- Intellectual disability
- Osteogenesis imperfecta
- Clefting
- Bilateral congenital or childhood onset cataracts
- Limb disorders
- Fetal anomalies
- Fetal hydrops
- Retinal disorders
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection (GMS)
- Monogenic hearing loss
- Structural eye disease
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- DDG2P
- Glaucoma (developmental)
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Melissa Connolly (WMRGL GLH)gene: COL2A1 was added gene: COL2A1 was added to Monogenic short stature. Sources: Expert Review Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL2A1 were set to PMID: 41543979 Phenotypes for gene: COL2A1 were set to EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; KNIEST DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE; SPONDYLOPERIPHERAL DYSPLASIA Penetrance for gene: COL2A1 were set to Complete Review for gene: COL2A1 was set to GREEN