1. Genes and Genomic Entities
  2. CFHR1

CFHR1

complement factor H related 1
OMIM: 134371, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green CFHR1 in COVID-19 research


Level 2: Viral research
Version 1.142

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Complement Deficiencies
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
Green CFHR1 in Membranoproliferative glomerulonephritis including C3 glomerulopathy

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

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
    • Hemolytic uremic syndrome, atypical, susceptibility to, 235400
    • Immune-complex-mediated MPGN
    Tags
    • currently-ngs-unreportable
    Green CFHR1 in Atypical haemolytic uraemic syndrome

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Hemolytic uremic syndrome, atypical, susceptibility to 235400
    Red CFHR1 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 4.202
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • IUIS Classification December 2019
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • GRID V2.0
    Phenotypes
    • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
    • Age related macular degeneration
    • Complement Deficiencies
    • Atypical hemolytic uremic syndrome susceptibility
    Green CFHR1 in Unexplained young onset end-stage renal disease


    Version 3.41
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • IC-MPGN
    • Immune-complex-mediated MPGN
    • C3 glomerulopathy
    • Immune complex MPGN
    • Hemolytic uremic syndrome, atypical, susceptibility to, 235400
    • C3G
    Red CFHR1 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Red
    • Expert list
    Phenotypes
    • {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922