Membranoproliferative glomerulonephritis including C3 glomerulopathy
Gene: CFIComment on list classification: Changed rating to Green to reflect NHS signed-off rating, will be examined at next panel review.Created: 16 Oct 2020, 8:10 a.m. | Last Modified: 16 Oct 2020, 8:10 a.m.
Panel Version: 2.12
There are no reports I am aware of of mutations in this gene co-segregating with familial MPGN. Therefore this should not be regarded as a diagnostic gene. Rare variants have been reported in patients with MPGN in uncontrolled candidate gene sequencing studies.Created: 10 Jan 2020, 10:26 a.m. | Last Modified: 10 Jan 2020, 10:26 a.m.
Panel Version: 2.2
Mode of inheritance
Unknown
Comment on list classification: Changing rating from Green to Amber. Expert review has rated this gene red. No famililal cases reported, and cases that are reported looked at candidate genes only.Created: 23 Mar 2020, 11:37 a.m. | Last Modified: 23 Mar 2020, 11:37 a.m.
Panel Version: 2.8
Only renal phenotype in OMIM this gene is associated with is {Hemolytic uremic syndrome, atypical, susceptibility to, 3} 612923.
Papers cited by the BRIDGE consortium
PMID: 18371543 - Boyer et al 2008 - Patient 1 with atypical hemolytic and uremic syndrome had combined CFH and CFI heterozygous mutations.
PMID: 22456601 - Servais et al 2012 - for 141 patients from 45 centers with a definite diagnosis of primary MPGN I, DDD, or GNC3 they performed direct sequencing of CFH, CFI, or MCP exons and of a set of 10 SNPs within the CFH and MCP genes. 6 patients had heterozygous variants in CFI, 3 of which are reported in patients with MPGN histology (Table 2).
Following expert review rating this gene Red, and review of the literature this gene should be down graded to Amber or Red.Created: 29 Jan 2020, 10:25 p.m. | Last Modified: 29 Jan 2020, 10:25 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: CFI; Suggested initial gene rating: none provided;Created: 12 Feb 2019, 12:13 p.m.
Comment when marking as ready: Marked as ready after clinical reviewCreated: 15 Dec 2017, 3:40 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, 2:43 p.m.
Tag to_be_confirmed_NHSE tag was added to gene: CFI.
Tag for-review tag was added to gene: CFI.
Gene: cfi has been classified as Green List (High Evidence).
Gene: cfi has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to CFI. 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).
CFI was created by Anonymous
CFI was added to Primary Membranoproliferative Glomerulonephritispanel. Sources: Expert list