Membranoproliferative glomerulonephritis including C3 glomerulopathy

Gene: CFHR2

Green List (high evidence)

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 review

Created: 15 Dec 2017, 3:35 p.m.

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN

Publications

• 24334459
• 23728178
• 20800271

Green List (high evidence)

Comment on list classification: Changed to Green but added tag currently-ngs-unreportable

Created: 5 Jun 2017, 3:56 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 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: 5 Jun 2017, 2:42 p.m.