Haematuria

Gene: COL4A6

Red List (low evidence)

COL4A6 (collagen type IV alpha 6 chain)
EnsemblGeneIds (GRCh38): ENSG00000197565
EnsemblGeneIds (GRCh37): ENSG00000197565
OMIM: 303631, Gene2Phenotype
COL4A6 is in 5 panels

3 reviews

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, Febuary 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: COL4A6; Suggested initial gene rating: Amber; Evidence for inclusion: Contiguous COL4A5/COL4A6 del associated with Alport syndrome-diffuse leiomyomatosis; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided; .
Created: 3 Feb 2019, 3:19 p.m.

Mode of inheritance
Unknown

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Possibility of digenic inheritance in Alports but this has been shown in COL4A3, 4 and 5, not 6. Further work on this lies in the research sphere so COL4A6 should not be included in the diagnostic panel.
Created: 29 Jan 2016, 12:43 p.m.

Ellen McDonagh (Genomics England Curator)

Evidence for digenic inheritance in Alport syndrome? See PMID: 25575550, COL4A3, COL4A4 and COL4A6 genes.
Created: 28 Aug 2015, 7:33 a.m.

Details

Sources
  • NHS GMS
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
  • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • (originally on Alport syndrome gene panel)
OMIM
303631
Clinvar variants
Variants in COL4A6
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Feb 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL4A6.

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A6 was added to Familial haematuriapanel. Source: Radboud University Medical Center, Nijmegen

28 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A6 was added to Familial haematuriapanel. Sources: Radboud University Medical Center, Nijmegen