CFHR5

complement factor H related 5
OMIM: 608593, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CFHR5 in COVID-19 research


Level 2: Viral research
Version 1.130

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

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 2.26
Latest signed off version: v2.13 (16 Oct 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • 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
    • Q2_22_MOI
    • Q2_22_NHS_review

    Amber CFHR5 in Atypical haemolytic uraemic syndrome

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.15
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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


    Version 2.573
    Latest signed off version: v2.1 (24 Feb 2020)

    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 1.113

    Component of the following Super Panels:

  • Renal superpanel - broad
  • 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

    Green CFHR5 in Unexplained paediatric onset end-stage renal disease


    Version 1.37
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Haematuria
    • macroscopic haematuria
    • kidney failure
    • C3 glomerulopathy

    Amber CFHR5 in Haematuria

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.11
    Latest signed off version: v2.4 (15 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert Review
    • Literature
    Phenotypes
    • Nephropathy due to CFHR5 deficiency OMIM:614809

    Green CFHR5 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nephropathy due to CFHR5 deficiency, 614809