CFHR4

complement factor H related 4
OMIM: 605337, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CFHR4 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
Red CFHR4 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 Unknown
    Sources
    • Other
    Phenotypes
    • Age related macular degeneration
    • Atypical hemolytic uremic syndrome susceptibility
    Red CFHR4 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
    Red CFHR4 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}, 235400
    • {Macular degeneration, age-related, reduced risk of}, 603075