Membranoproliferative glomerulonephritis including C3 glomerulopathy
Gene: CFH
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
Comment on mode of inheritance: Changing the MOI to BIALLELIC, autosomal or pseudoautosomal as per the signed off version 2.13 (Oct 2020) and as agreed with NHSE.Created: 22 Nov 2022, 1:51 p.m. | Last Modified: 22 Nov 2022, 1:52 p.m.
Panel Version: 2.28
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 MPGNCreated: 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.
Comment when marking as ready: Marked ad ready after clinical reviewCreated: 15 Dec 2017, 3:31 p.m.
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.
Mode of inheritance for gene: CFH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag to_be_confirmed_NHSE tag was added to gene: CFH.
Tag for-review tag was added to gene: CFH.
Mode of inheritance for gene: CFH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: CFH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFH were set to 24172683; 16612335; 24722444; 27458560
Source NHS GMS was added to CFH. Rating Changed from Green List (high evidence) to Green List (high evidence)
15th December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Arianna Tucci and Louise Daugherty
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CFH was created by Anonymous
CFH was added to Primary Membranoproliferative Glomerulonephritispanel. Sources: Expert list