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COVID-19 research

Gene: CFHR5

Green List (high evidence)

CFHR5 (complement factor H related 5)
EnsemblGeneIds (GRCh38): ENSG00000134389
EnsemblGeneIds (GRCh37): ENSG00000134389
OMIM: 608593, Gene2Phenotype
CFHR5 is in 8 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

I don't know

agree with all the Amber genes
Created: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115

Tracy Briggs (Manchester Genomic Medicine Centre)

I don't know

The amber genes are covered on our targeted exome, we feel that these should be covered in the testing
Created: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114

Sophie Hambleton (Newcastle University)

I don't know

agree
Created: 29 Jun 2018, 1:35 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Glomerulonephritis with C3 deposits (green re association - ?phenotype)
Created: 26 Sep 2019, 3:51 p.m. | Last Modified: 26 Sep 2019, 3:51 p.m.
Panel Version: 1.130
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber.
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
Comment on mode of inheritance: Changed MOI in view of IUIS data
Created: 29 Mar 2019, 3:07 p.m.
After internal and external review, it was agreed this gene should remain Amber (it is listed on the GRID and VCGS panel)
Created: 3 Jul 2018, 9:24 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFHR1-5 .PanelApp HGNC gene symbol check: CFHR5 . IUIS Disease: Factor H -related protein deficiencies . IUIS Inheritance: AR or AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 a.m.
After internal clinical review it was agreed that the phenotype is better suited to a panel to cover the new disease: Familial IgA nephropathy and IgA vasculitis. Although this panel includes complement deficiencies, CFHR5 sequence variants seem to be risk factors/'susceptibility factors for the development of chronic kidney disease after streptococcal infection / Familial IgA nephropathy and IgA vasculitis. Also only be one cnv (not published but in Clinvar) https://www.ncbi.nlm.nih.gov/clinvar?term=608593[MIM] , remainder are duplication/fusion/rearrangement events.
Created: 8 Jun 2018, 3:30 p.m.
For internal clinical review- Not sure if CFHR5 sequence variants that are risk factors for the development of chronic kidney disease after streptococcal infection is applicable to this panel
Created: 8 Jun 2018, 12:46 p.m.
The commonest cause of Nephropathy due to CFHR5 deficiency is complement factor H-related 5 (CFHR5), which is endemic in Greek Cypriots. Genetic evidence implicates some of the same complement regulators in the aetiology of common immune complex glomerular disorders such as IgA nephropathy and lupus nephritis. Complement is an important aspect of defence against infection

Created: 8 Jun 2018, 11:57 a.m.
Comment on phenotypes: added phenotype from orphanet
Created: 7 Jun 2018, 4:27 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CFHR5, GRID_Gene_Symbol: CFHR5, GRID_Transcript_ENS_Community submitted: ENST00000256785, GRID_Transcript_RefSeq: NM_030787.3, GRID_Transcript_ENS_used_on_Production: ENST00000256785
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Atypical hemolytic-uremic syndrome with anti-factor H antibodies
  • Atypical hemolytic uremic syndrome susceptibility
  • Nephropathy due to CFHR5 deficiency, 614809
  • Complement Deficiencies
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
OMIM
608593
Clinvar variants
Variants in CFHR5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to CFHR5. Added phenotypes Atypical hemolytic-uremic syndrome with anti-factor H antibodies; Atypical hemolytic uremic syndrome susceptibility; Nephropathy due to CFHR5 deficiency, 614809; Complement Deficiencies; Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections for gene: CFHR5 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CFHR5 was added gene: CFHR5 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CFHR5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFHR5 were set to 28673452; 20800271; 32086639; 22503529; 32048120 Phenotypes for gene: CFHR5 were set to Atypical hemolytic-uremic syndrome with anti-factor H antibodies; Atypical hemolytic uremic syndrome susceptibility; Nephropathy due to CFHR5 deficiency, 614809; Complement Deficiencies; Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections