Membranoproliferative glomerulonephritis including C3 glomerulopathy
Gene: CFHR1
See comment by Louise Daugherty 9 Jul 2017 and as discussed by GMS renal specialist test group 04.02.19, since SNVs in this gene do not have a confirmed disease association, for the purposes of the Genomic Medicine Service this gene will be tested by dosage analysis only.Created: 28 Mar 2019, 7:07 a.m.
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Comment when marking as ready: Marked as ready after clinical reviewCreated: 15 Dec 2017, 3:33 p.m.
Pertinent gene but cannot be reported on : Variants known to be associated to MPGN but cannot be detected due to type of variant consequence which currently cannot be detected by NGS pipeline. Mutations cause gain of function effects. The pathogenic mutations in CFHR5, CFHR1 and CFHR2 that are known to cause PMG are all gene duplication/fusion/rearrangement events which all lead to the production of elongated proteins, see Gale, 20800271; Tortajada 23728178; Chen, 24334459. Single nucleotide variants (and even frameshifts/premature stop codons) in these particular genes are not (yet) established as pertinent findings since they would be novel compared with what is already known about the genetics of PMG.Created: 9 Jul 2017, 8:52 a.m.
Comment on list classification: Changed to Green but added tag currently-ngs-unreportableCreated: 5 Jun 2017, 3:55 p.m.
15th December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Arianna Tucci and Louise Daugherty
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CFHR1 was added to Primary Membranoproliferative Glomerulonephritispanel. Sources: Expert list
CFHR1 was created by Anonymous