Complement Deficiencies
Gene: CFB
PMID: 33165708, 24152280 - 2 cases reported with CFB deficiency & chet variants identified
PMID: 17182750 - GoF variants associated with aHUSCreated: 1 May 2025, 10:14 a.m. | Last Modified: 1 May 2025, 10:14 a.m.
Panel Version: 0.74
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
complement factor b deficiency MONDO:0014255; Atypical hemolytic-uremic syndrome with B factor anomaly MONDO:0013042
Publications
Variants in this GENE are reported as part of current diagnostic practice
Single individual reported, supportive immunophenotyping data.Created: 10 Apr 2020, 3 a.m. | Last Modified: 10 Apr 2020, 3 a.m.
Panel Version: 0.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Complement factor B deficiency, MIM# 615561
Publications
Phenotypes for gene: CFB were changed from Complement factor B deficiency, MIM# 615561 to complement factor b deficiency MONDO:0014255; Atypical hemolytic-uremic syndrome with B factor anomaly MONDO:0013042
Publications for gene: CFB were set to 24152280
Mode of inheritance for gene: CFB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: cfb has been classified as Green List (High Evidence).
Gene: cfb has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CFB were changed from to Complement factor B deficiency, MIM# 615561
Publications for gene: CFB were set to
Mode of inheritance for gene: CFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: cfb has been classified as Amber List (Moderate Evidence).
gene: CFB was added gene: CFB was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CFB was set to Unknown