Haematuria

Gene: CFHR5

Green List (high evidence)

Comment on list classification: Promoting to Amber after discussion with NHS GMS renal specialist group on 2019-02-04. Newcastle group report that they had 1 family with a variant in this gene.

Created: 12 Feb 2019, 10:46 p.m.

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: CFHR5; Suggested initial gene rating: Green; Evidence for inclusion: PMID:23402027, **Cannot access full text of PMID: 23402027 but states 21 families in abstract; 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nephropathy due to CFHR5 deficiency #614809

Publications

• PMID:23402027

Comment when marking as ready: Await discussions by V and F working group then consider promoting to green.

Created: 29 Jan 2016, 1:32 p.m.

Comment on list classification: This has a single variant which has been reported in multiple families but this is due to a founder effect. Plan is to leave it on the red list until the V and F working group has decided on an approach to this situation, to ensure the approach is even across all phenotypes.

Created: 29 Jan 2016, 1:28 p.m.

Green List (high evidence)

Variants resulting in duplication of protein domains or hybrid genes are pathogenic and probably have a gain-of-function mechanism. Evidence for pathogenic role of SNVs is less strong.

Created: 7 Oct 2015, 1:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other