Haematuria
Gene: COL4A6
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
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.
Evidence for digenic inheritance in Alport syndrome? See PMID: 25575550, COL4A3, COL4A4 and COL4A6 genes.Created: 28 Aug 2015, 7:33 a.m.
Source NHS GMS was added to COL4A6.
This gene has been classified as Red List (Low Evidence).
COL4A6 was added to Familial haematuriapanel. Source: Radboud University Medical Center, Nijmegen
COL4A6 was added to Familial haematuriapanel. Sources: Radboud University Medical Center, Nijmegen