Rare genetic inflammatory skin disorders

Gene: COL1A2

Red List (low evidence)

COL1A2 (collagen type I alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000164692
EnsemblGeneIds (GRCh37): ENSG00000164692
OMIM: 120160, Gene2Phenotype
COL1A2 is in 10 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Created: 16 Apr 2024, 3:45 p.m. | Last Modified: 16 Apr 2024, 3:45 p.m.
Panel Version: 3.12

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, 11:26 a.m. | Last Modified: 31 Jan 2023, 11:26 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:COL1A2; 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

16 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: col1a2 has been classified as Red List (Low Evidence).

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: COL1A2 was added gene: COL1A2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown