PanelApp
  1. Genes and Genomic Entities
  2. CFB

CFB

complement factor B
OMIM: 138470, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CFB in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.63

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924

Green CFB in Mendeliome


Version 1.3795

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement factor B deficiency, MIM# 615561
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924

Green CFB in Atypical Haemolytic Uraemic Syndrome_MPGN


Level 2: Renal and urinary tract disorders
Version 0.55

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Haemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924

    Green CFB in Complement Deficiencies


    Level 2: Immunological disorders
    Version 1.2

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • complement factor b deficiency MONDO:0014255
    • Atypical hemolytic-uremic syndrome with B factor anomaly MONDO:0013042

    Red CFB in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Haemolytic uraemic syndrome

    Red CFB in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Haemolytic uraemic syndrome
    • Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924