CFB

complement factor B
OMIM: 138470, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CFB in COVID-19 research Level 2: Viral research Version 1.146	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 including C3 glomerulopathy Level 2: Renal Version 3.8 Latest signed off version: v3.6 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	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
Green CFB in Atypical haemolytic uraemic syndrome Level 2: Renal Version 3.8 Latest signed off version: v3.6 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	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 or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	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 1.124	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Expert list Expert Review Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Red CFB in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Phenotypes Macular Degeneration