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Membranoproliferative glomerulonephritis

Gene: CD46

Red List (low evidence)

CD46 (CD46 molecule)
EnsemblGeneIds (GRCh38): ENSG00000117335
EnsemblGeneIds (GRCh37): ENSG00000117335
OMIM: 120920, Gene2Phenotype
CD46 is in 7 panels

2 reviews

Arianna Tucci (Genomics England Curator)

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.

BRIDGE consortium (NIHRBR-RD)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Haemolytic uraemic syndrome
  • aHUS
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
OMIM
120920
Clinvar variants
Variants in CD46
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Dec 2017, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

15th December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Arianna Tucci and Louise Daugherty

15 Dec 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Jun 2017, Gel status: 0

Added New Source

Anonymous ()

CD46 was added to Primary Membranoproliferative Glomerulonephritispanel. Sources: Expert list

5 Jun 2017, Gel status: 0

Created

Anonymous ()

CD46 was created by Anonymous