CFHR5

complement factor H related 5
OMIM: 608593, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CFHR5 in COVID-19 research Level 2: Viral research Version 1.146	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification February 2018 IUIS Classification December 2019 London North GLH NHS GMS GRID V2.0 North West GLH Victorian Clinical Genetics Services IUIS Classification December 2019 North West GLH London North GLH NHS GMS IUIS Classification February 2018 Victorian Clinical Genetics Services GRID V2.0 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
Green CFHR5 in Membranoproliferative glomerulonephritis including C3 glomerulopathy Level 2: Renal Version 3.8 Latest signed off version: v3.6 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert list Phenotypes C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Nephropathy due to CFHR5 deficiency, OMIM:614809 Immune-complex-mediated MPGN CFHR5 nephropathy Haematuria Chronic Kidney Disease Proteinuria End stage renal disease Tags currently-ngs-unreportable
Amber CFHR5 in Atypical haemolytic uraemic syndrome Level 2: Renal Version 3.8 Latest signed off version: v3.6 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Nephropathy due to CFHR5 deficiency, MIM# 614809
Red CFHR5 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red IUIS Classification December 2019 North West GLH London North GLH NHS GMS IUIS Classification February 2018 Victorian Clinical Genetics Services GRID V2.0 Phenotypes Complement Deficiencies Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections Nephropathy due to CFHR5 deficiency, 614809 Atypical hemolytic-uremic syndrome with anti-factor H antibodies Atypical hemolytic uremic syndrome susceptibility
Green CFHR5 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.124	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Nephropathy due to CFHR5 deficiency, OMIM:614809 Immune-complex-mediated MPGN CFHR5 nephropathy Haematuria Chronic Kidney Disease Proteinuria End stage renal disease
Amber CFHR5 in Haematuria Level 2: Renal Version 2.17 Latest signed off version: v2.15 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert Review Literature Phenotypes Nephropathy due to CFHR5 deficiency OMIM:614809