CFI

complement factor I
OMIM: 217030, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CFI in COVID-19 research


Level 2: Viral research
Version 1.130

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • Inherited complement deficiency v0.11
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Inherited complement deficiency v0.11
Phenotypes
  • {Macular degeneration, age-related, 13, susceptibility to}, 615439
  • Complement factor I deficiency
  • Factor I deficiency
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923
  • Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia
  • Complement Deficiencies
  • Immunodeficiency with factor I anomaly
  • C3b inactivator deficiency
  • Complement factor I deficiency, 610984

Green CFI 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
    • NHS GMS
    • Expert list
    Phenotypes
    • C3 glomerulopathy
    • C3G
    • Immune complex MPGN
    • IC-MPGN
    • Immune-complex-mediated MPGN
    • Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923
    Tags
    • for-review
    • to_be_confirmed_NHSE

    Green CFI 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
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    Phenotypes
    • Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923
    • Complement factor I deficiency, OMIM:610984
    Tags
    • Q2_22_MOI

    Green CFI in Primary immunodeficiency


    Version 2.572
    Latest signed off version: v2.1 (24 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • North West GLH
    • London North GLH
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • ESID Registry 20171117
    • GRID V2.0
    • Inherited complement deficiency v0.11
    Phenotypes
    • Complement factor I deficiency, 610984
    • {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923
    • {Macular degeneration, age-related, 13, susceptibility to}, 615439
    • Complement factor I deficiency
    • C3b inactivator deficiency
    • Factor I deficiency
    • Immunodeficiency with factor I anomaly
    • Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia
    • Complement Deficiencies

    Green CFI 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923
    • Complement factor I deficiency, OMIM:610984

    Green CFI 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
    • Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
    • Complement factor I deficiency, OMIM:610984
    Tags
    • Q2_22_MOI

    Green CFI in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Complement factor I deficiency, 610984