ClinGen Gene Validity Curations

Gene: COL2A1

Amber List (moderate evidence)

COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 20 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/4843
Created: 19 Apr 2017, 2:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Added New Source

Ellen McDonagh (Genomics England Curator)

COL2A1 was added to ClinGen Gene Validity Curationspanel. Sources: Other

19 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL2A1 was created by ellenmcdonagh