Description
Primary membranoproliferative glomerulonephritis eligibility statement.

Primary membranoproliferative glomerulonephritis inclusion criteria :
Kidney biopsy showing MPGN or C3 Glomerulopathy (defined as glomerular inflammation with immunoreactivity for complement C3 greater than 2x immunoreactivity for immunoglobulins) with or without hypocomplementaemia or an identified C3 Nephritic Factor (should both be tested for), AND Proteinuria or haematuria lasting longer than 3 months.

Primary membranoproliferative glomerulonephritis exclusion criteria :
Likely or proven underlying malignant, autoimmune or infectious disorder (for example, but not limited to, hepatitis virus infection, systemic lupus erythematosus, cryoglobulinaemia, paraproteinaemia etc) OR
Self-limiting post-infectious glomerulonephritis

Prior genetic testing guidance :
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement :
These requirements will be kept under continual review during the main programme and may be subject to change.

This panel includes BRIDGE consortium Tier 1 genes from NIHR BioResource – Rare Diseases Study (NIHRBR-RD) sent by Dr Karyn Megy, WGS Clinical Feedback Lead and incorporates pertinent genes associated to PMG.
The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel :  Dr Daniel Gale, University College London.

3 reviewers

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • BRIDGE consortium (NIHRBR-RD)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

9 Entities

9 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
9 Entitiess
Green Green List (high evidence)
CFH
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400
  • Dense Deposit Disease
  • Membranoproliferative Glomerulonephritis Type II
  • Immune-complex-mediated MPGN
Tags
Green Green List (high evidence)
CFHR1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Hemolytic uremic syndrome, atypical, susceptibility to, 235400
  • Immune-complex-mediated MPGN
Tags
  • currently-ngs-unreportable
Green Green List (high evidence)
CFHR2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Immune-complex-mediated MPGN
Tags
  • currently-ngs-unreportable
Green Green List (high evidence)
CFHR5
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Nephropathy due to CFHR5 deficiency,614809
  • Immune-complex-mediated MPGN
  • CFHR5 nephropathy
Tags
  • currently-ngs-unreportable
Green Green List (high evidence)
CFI
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Immune-complex-mediated MPGN
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923
Tags
Green Green List (high evidence)
DGKE
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Haemolytic uraemic syndrome
  • aHUS
  • Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008
  • Nephrotic syndrome, type 7, 615008
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
Tags
Amber Amber List (moderate evidence)
CFB
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Haemolytic uraemic syndrome
  • aHUS
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
Tags
Red Red List (low evidence)
C3
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Haemolytic uraemic syndrome
  • aHUS
  • Hemolytic uremic syndrome, atypical, susceptibility to, 5,612925
  • C3 glomerulopathy
  • C3G
  • C3 deficiency, 613779
  • Immune complex MPGN
  • IC-MPGN
Tags
Red Red List (low evidence)
CD46
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Haemolytic uraemic syndrome
  • aHUS
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
Tags

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