Membranoproliferative glomerulonephritis including C3 glomerulopathy

Gene: CD46

Green List (high evidence)

PMID: 17018561 Servais et al., 2006
Group of 19 patients with C3G. Patient 7 was comp het for two CD46 mutations p.(V215M) and p.(A353V).

PMID: 29566171 Zhao et al., 2018
Chinese cohort of C3G / MPGN patients. 3 individuals reported with heterozygous CD46 variants:
CD46: c.293C>T, p.T98I; CD46: c.932C>T, p.A296V; CD46: c.1076C>G, p.A359G. 2 of these variants were previously reported in aHUS patients. 2 patients presented with C3 glomerulopathy, and 1 with MPGN.

Created: 24 Jun 2026, 10:41 a.m. | Last Modified: 24 Jun 2026, 10:41 a.m.

Panel Version: 3.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to, 2}, OMIM:612922

Publications

• 17018561
• 29566171

Comment when marking as ready: Marked as red as the evidence of association with the isolated phenotype is limited.

Created: 15 Dec 2017, 4:07 p.m.

Red List (low evidence)

Novel gene currently associated to atypical haemolytic uraemic syndrome (aHUS), but are thought to be also causative for MPGN. PMID: 14615110 study of patients with atypical haemolytic uraemic syndrome, not PMG. Because of the variable expressivity of some complement gene mutations, we have included the genes known to cause (and in routine clinical testing in) the mechanistically related, extremely rare disease atypical Haemolytic Uraemic Syndrome (aHUS). There is now good evidence that mutations that are associated with aHUS can be found in patients with Primary MPGN/C3G (see Servais et al PMID: 22456601). Therefore known or clearly pathogenic mutations previously associated with aHUS would be presumed to be causative in patients with PMG where this is the clinical presentation.

Created: 5 Jun 2017, 3:49 p.m.

Novel gene currently associated to atypical haemolytic uraemic syndrome (aHUS), but are thought to be also causative for MPGN. PMID: 14615110 study of patients with atypical haemolytic uraemic syndrome, not PMG. Because of the variable expressivity of some complement gene mutations, we have included the genes known to cause (and in routine clinical testing in) the mechanistically related, extremely rare disease atypical Haemolytic Uraemic Syndrome (aHUS). There is now good evidence that mutations that are associated with aHUS can be found in patients with Primary MPGN/C3G (see Servais et al PMID: 22456601). Therefore known or clearly pathogenic mutations previously associated with aHUS would be presumed to be causative in patients with PMG where this is the clinical presentation.

Created: 5 Jun 2017, 3:35 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922; C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN

Publications

• 24172683
• 22456601
• 14615110
• 21902819