Unexplained kidney failure in young people
Gene: CFHComment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 4 Aug 2016, 11:17 a.m.
Comment on phenotypes: Also associated with Basal laminar drusen 126700 and {Macular degeneration, age-related, 4} 610698Created: 4 Aug 2016, 11:17 a.m.
Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE StudyCreated: 5 Jul 2016, 10:05 a.m.
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
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CFH were set to Complement factor H deficiency 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400
This gene has been classified as Green List (High Evidence).
Publications for CFH were set to 9551389; 10803850; 11170895
Phenotypes for CFH were set to Complement factor H deficiency 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400
CFH was created by sleigh
CFH was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN