Atypical haemolytic uraemic syndrome
Gene: CFHR3

CFHR3 (complement factor H related 3)
EnsemblGeneIds (GRCh38): ENSG00000116785
EnsemblGeneIds (GRCh37): ENSG00000116785
OMIM: 605336, Gene2Phenotype
CFHR3 is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Also associated with Macular degeneration, age-related, reduced risk of 603075
Created: 15 Aug 2016, 10:42 a.m.

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous reports of CFHR1/CFHR3 deletion in 2 independent European cohorts (see publications)
Created: 15 Aug 2016, 10:35 a.m.

Numerous reports of CFHR1/CFHR3 deletion in 2 independent European cohorts.
Created: 15 Aug 2016, 10:34 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to 235400

Publications

Created: 15 Aug 2016, 10:34 a.m.

Panel version: 0.16

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature
UKGTN

Phenotypes

Hemolytic uremic syndrome, atypical, susceptibility to 235400

OMIM

605336

Clinvar variants

Variants in CFHR3

Penetrance

Complete

Publications

Panels with this gene