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  3. COL4A5
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Rare genetic inflammatory skin disorders

Gene: COL4A5

Red List (low evidence)
COL4A5 (collagen type IV alpha 5 chain)
EnsemblGeneIds (GRCh38): ENSG00000188153
EnsemblGeneIds (GRCh37): ENSG00000188153
OMIM: 303630, Gene2Phenotype
COL4A5 is in 6 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, 3:47 p.m. | Last Modified: 16 Apr 2024, 3:47 p.m.
Panel Version: 3.16
Created: 16 Apr 2024, 3:47 p.m.
Last Modified: 16 Apr 2024, 3:47 p.m.
Panel version: 3.16

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

Inflammatory skin disorders is not part of the Alport syndrome phenotype
Created: 31 Jan 2023, 11:27 a.m. | Last Modified: 31 Jan 2023, 11:27 a.m.
Panel Version: 2.1
Created: 31 Jan 2023, 11:27 a.m.
Last Modified: 31 Jan 2023, 11:27 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:COL4A5; 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
Created: 9 Sep 2019, 3:38 p.m.
Last Modified: 9 Sep 2019, 3:38 p.m.
Panel version: 0.14

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
OMIM
303630
Clinvar variants
Variants in COL4A5
Penetrance
None
Panels with this gene

History Filter Activity

16 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: col4a5 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: COL4A5 was added gene: COL4A5 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)