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Membranoproliferative glomerulonephritis

Gene: CFH

Green List (high evidence)

CFH (complement factor H)
EnsemblGeneIds (GRCh38): ENSG00000000971
EnsemblGeneIds (GRCh37): ENSG00000000971
OMIM: 134370, Gene2Phenotype
CFH is in 8 panels

5 reviews

Daniel Gale (UCL)

Green List (high evidence)

Only bi-allelic loss of function variants in CFH have been robustly linked to C3 glomerulopathy (DDD) in humans, mice and pigs. Monoalleleic defects are linked with aHUS but NOT MPGN. The mechanism for this is understood.
Created: 10 Jan 2020, 10:22 a.m. | Last Modified: 10 Jan 2020, 10:22 a.m.
Panel Version: 2.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C3 glomerulopathy; Membranoproliferative glomerulonephritis; renal insufficiency; proteinuria

Publications

Variants in this GENE are reported as part of current diagnostic practice

Eleanor Williams (Genomics England Curator)

I don't know

Comment on mode of inheritance: Reverting the mode of inheritance to BOTH monalllelic and biallelic to reflect the signed off version in March 2020. However, the recommendation is to change this to just BIALLELIC, following GMS review.
Created: 19 Jan 2021, 2:52 p.m. | Last Modified: 19 Jan 2021, 2:52 p.m.
Panel Version: 2.15
Comment on mode of inheritance: Updating MOI to Biallelic only, after expert reviewer notes that only biallelic variants are associated with C3 glomerulopathy. They note monoalleleic defects are linked with aHUS but NOT MPGN
Created: 23 Mar 2020, 11:31 a.m. | Last Modified: 23 Mar 2020, 11:31 a.m.
Panel Version: 2.7
Following expert review, the mode of inheritance for this gene on this panel should be updated to BIALLELIC only.
Created: 29 Jan 2020, 10:41 p.m. | Last Modified: 29 Jan 2020, 10:41 p.m.
Panel Version: 2.2
This gene was part of an initial gene list collated by Valerie Wilson, The National Renal Complement Therapeutics Centre, February 2019 on behalf of Yorkshire and North East GLH for the GMS Renal Specialist Test Group; Gene Symbol submitted: CFH; Suggested initial gene rating: none provided;
Created: 12 Feb 2019, 12:13 p.m.

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked ad ready after clinical review
Created: 15 Dec 2017, 3:31 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Pertinent gene . The variants known to be associated to MPGN - Genes against which can be detected with current pipeline (Single nucleotide variants/frameshifts/premature stop codon etc)
Created: 5 Jun 2017, 2:44 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • 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
for-review
OMIM
134370
Clinvar variants
Variants in CFH
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Jan 2021, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: CFH.

19 Jan 2021, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CFH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

23 Mar 2020, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CFH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

23 Mar 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CFH were set to 24172683; 16612335; 24722444; 27458560

12 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CFH. Rating Changed from Green List (high evidence) to Green List (high evidence)

15 Dec 2017, Gel status: 3

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: 3

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Jun 2017, Gel status: 0

Created

Anonymous ()

CFH was created by Anonymous

5 Jun 2017, Gel status: 0

Added New Source

Anonymous ()

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