CFB

complement factor B
OMIM: 138470, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CFB in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.52	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 1.2302	1 review	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 0.53 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
Amber CFB in Complement Deficiencies Level 2: Immunological disorders Version 0.74 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Complement factor B deficiency, MIM# 615561
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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	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