ClinGen Gene Validity CurationsGene: COL2A1
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.
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/4843
Created: 19 Apr 2017, 2:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL2A1 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen
This gene has been classified as Amber List (Moderate Evidence).
COL2A1 was added to ClinGen Gene Validity Curationspanel. Sources: Other
COL2A1 was created by ellenmcdonagh