Description
This panel is used for clinical indication 'R197 Membranoproliferative glomerulonephritis including C3 glomerulopathy' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R197 Membranoproliferative glomerulonephritis including C3 glomerulopathy'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project.  For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

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.


The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/83/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (19/August/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

6 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

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • David Kavanagh (Newcastle upon Tyne NHS hospitals trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

9 Entities

9 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
9 Entitiess
Green Green List (high evidence)
C3
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
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
Green Green List (high evidence)
CFB
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Haemolytic uraemic syndrome
  • aHUS
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • MPGN
  • Membranoproliferative glomerulonephritis
Tags
Green Green List (high evidence)
CFH
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
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
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
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
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
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
3 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
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
Red Red List (low evidence)
CD46
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
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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