CFB

complement factor B
OMIM: 138470, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CFB in COVID-19 research


Level 2: Viral research
Version 1.80

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • NHS GMS
  • North West GLH
  • London North GLH
  • ESID Registry 20171117
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • Infections with encapsulated organisms
  • Complement Deficiencies
  • complement factor B deficiency (AR)
  • Atypical Hemolytic-uremic syndrome
  • Complement factor B deficiency, 615561
  • Susceptibility to atypical haemolytic uraemic syndrome 4 (AD)

Green CFB in Membranoproliferative glomerulonephritis

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 2.21
Latest signed off version: v2.13 (16 Oct 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Haemolytic uraemic syndrome
    • aHUS
    • Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924
    • C3 glomerulopathy
    • C3G
    • Immune complex MPGN
    • IC-MPGN
    • MPGN
    • Membranoproliferative glomerulonephritis
    Tags
    • for-review

    Green CFB in Atypical haemolytic uraemic syndrome

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.10
    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
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924

    Amber CFB in Primary immunodeficiency


    Version 2.480
    Latest signed off version: v2.1 (24 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • North West GLH
    • London North GLH
    • Expert Review Amber
    • ESID Registry 20171117
    • GRID V2.0
    • Victorian Clinical Genetics Services
    • IUIS Classification February 2018
    Phenotypes
    • Complement factor B deficiency, 615561
    • Atypical Hemolytic-uremic syndrome
    • Infections with encapsulated organisms
    • Complement Deficiencies
    • Susceptibility to atypical haemolytic uraemic syndrome 4 (AD)
    • complement factor B deficiency (AR)

    Green CFB in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.99

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924

    Green CFB in Unexplained paediatric onset end-stage renal disease


    Version 1.23
    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, 4 612924

    Red CFB in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.228
    Latest signed off version: v2.195 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Macular Degeneration

    Amber CFB in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Complement factor B deficiency, 615561