Rare genetic inflammatory skin disorders

Gene: COL5A2

Amber List (moderate evidence)

COL5A2 (collagen type V alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204262
EnsemblGeneIds (GRCh37): ENSG00000204262
OMIM: 120190, Gene2Phenotype
COL5A2 is in 9 panels

2 reviews

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

Inflammatory skin disorders is not part of the EDS phenotype
Created: 31 Jan 2023, 11:28 a.m. | Last Modified: 31 Jan 2023, 11:28 a.m.
Panel Version: 2.1

Catherine Snow (Genomics England)

I don't know

This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:COL5A2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14

History Filter Activity

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: COL5A2 was added gene: COL5A2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown