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Membranoproliferative glomerulonephritis

Gene: CFI

Amber List (moderate evidence)

CFI (complement factor I)
EnsemblGeneIds (GRCh38): ENSG00000205403
EnsemblGeneIds (GRCh37): ENSG00000205403
OMIM: 217030, Gene2Phenotype
CFI is in 7 panels

5 reviews

Daniel Gale (UCL)

Red List (low evidence)

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

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

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.

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready after clinical review
Created: 15 Dec 2017, 3:40 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
C3 glomerulopathy; C3G; Immune complex MPGN; 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, 2:43 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Immune-complex-mediated MPGN
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923
OMIM
217030
Clinvar variants
Variants in CFI
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cfi has been classified as Amber List (Moderate Evidence).

12 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CFI. 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 ()

CFI was created by Anonymous

5 Jun 2017, Gel status: 0

Added New Source

Anonymous ()

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