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  2. Bleeding and Platelet Disorders
  3. CFB
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Bleeding and Platelet Disorders

Gene: CFB

Green List (high evidence)
CFB (complement factor B)
EnsemblGeneIds (GRCh38): ENSG00000243649
EnsemblGeneIds (GRCh37): ENSG00000243649
OMIM: 138470, Gene2Phenotype
CFB is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Thrombotic microangiopathy is part of the phenotype. Note this is a susceptibility locus.
Sources: Expert Review
Created: 29 Apr 2024, 6:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924

Created: 29 Apr 2024, 6:23 a.m.

Panel version: 1.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924
OMIM
138470
Clinvar variants
Variants in CFB
Penetrance
None
Panels with this gene

History Filter Activity

29 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfb has been classified as Green List (High Evidence).

29 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfb has been classified as Green List (High Evidence).

29 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFB was added gene: CFB was added to Bleeding and Platelet Disorders. Sources: Expert Review Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFB were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924 Review for gene: CFB was set to GREEN