This Panel is marked as Internal
ClinGen Gene Validity Curations
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
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene by ClinGen in this instance is for Spondyloepiphyseal dysplasia (Stanescu type), where indeed there are just two variants reported (the ClinGen assessment only takes one of these into account). The various ratings for this gene on other PanelApp panels is an indication of the level of evidence for the association of COL2A1 with the relevant conditions.Created: 14 Aug 2017, 9:38 a.m.
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as MODERATE by calculated classification (dated: 05/25/2016) and MODERATE by Expert curation (dated )12/01/2016. Available here: https://search.clinicalgenome.org/kb/gene-validity/4843Created: 19 Apr 2017, 2:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- ClinGen
- Expert Review Amber
- Other
- Phenotypes
-
- Spondyloepiphyseal dysplasia (Stanescu type)
- OMIM 616583
- OMIM
- 120140
- Clinvar variants
- Variants in COL2A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Fetal anomalies
- Fetal hydrops
- Monogenic hearing loss
- Thoracic aortic aneurysm or dissection (GMS)
- Limb disorders
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Multiple Epiphyseal Dysplasia
- Retinal disorders
- Osteogenesis imperfecta
- Thoracic aortic aneurysm or dissection
- Skeletal dysplasia
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Glaucoma (developmental)
- Structural eye disease
- Clefting
- Stickler syndrome
History Filter Activity
20 Jun 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)COL2A1 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen
19 Apr 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
19 Apr 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)COL2A1 was created by ellenmcdonagh
19 Apr 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)COL2A1 was added to ClinGen Gene Validity Curationspanel. Sources: Other