Atypical Haemolytic Uraemic Syndrome_MPGN
Gene: CFB

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)

Multiple individuals reported with mono-allelic variants and aHUS.
Created: 15 Oct 2022, 7:07 a.m. | Last Modified: 15 Oct 2022, 7:07 a.m.

Panel Version: 0.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 15 Oct 2022, 7:07 a.m.
Last Modified: 15 Oct 2022, 7:07 a.m.
Panel version: 0.43

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Haemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924

OMIM

138470

Clinvar variants

Variants in CFB

Penetrance

None

Publications

Panels with this gene