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 in the International guideline on genetic testing of children with Short stature (Supplementary information 4). Text references reports of isolated short stature.
Sources: Expert ReviewCreated: 17 Sep 2026, 1:09 p.m. | Last Modified: 17 Sep 2026, 5:31 p.m.
Panel Version: 2.9
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
-
- Stickler syndrome
- Monogenic hearing loss
- Retinal disorders
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Limb disorders
- Intellectual disability
- Fetal hydrops
- Ehlers Danlos syndrome with a likely monogenic cause
- Multiple Epiphyseal Dysplasia
- Clefting
- Thoracic aortic aneurysm or dissection (GMS)
- Monogenic short stature
- Fetal anomalies
- Structural eye disease
- Thoracic aortic aneurysm or dissection
- Skeletal dysplasia
- 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