Unexplained kidney failure in young people
Gene: CFH

CFH (complement factor H)
EnsemblGeneIds (GRCh38): ENSG00000000971
EnsemblGeneIds (GRCh37): ENSG00000000971
OMIM: 134370, Gene2Phenotype
CFH is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 4 Aug 2016, 11:17 a.m.

Comment on phenotypes: Also associated with Basal laminar drusen 126700 and {Macular degeneration, age-related, 4} 610698
Created: 4 Aug 2016, 11:17 a.m.

Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE Study
Created: 5 Jul 2016, 10:05 a.m.

Created: 5 Jul 2016, 10:05 a.m.

Panel version: 0.132

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
UKGTN
Expert list
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen

Phenotypes

Complement factor H deficiency 609814
{Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400

OMIM

134370

Clinvar variants

Variants in CFH

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CFH were changed from Complement factor H deficiency 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400 to Complement factor H deficiency 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400

17 Aug 2016, Gel status: 4