Unexplained kidney failure in young people
Gene: CFBComment on mode of inheritance: In OMIM this gene is also provisionally associated with Complement factor B deficiency based on evidence from one family with biallelic variants in CFB. However, given the phenotype/level of evidence it is not appropriate to change the mode of inheritance to Both monoallelic and biallelic on this panel.Created: 14 Oct 2021, 11:09 a.m. | Last Modified: 14 Oct 2021, 11:09 a.m.
Panel Version: 1.97
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reportedCreated: 4 Aug 2016, 11:14 a.m.
Comment on phenotypes: Also associated with Complement factor B deficiency 615561 and {Macular degeneration, age-related, 14, reduced risk of} 615489Created: 4 Aug 2016, 11:13 a.m.
Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE StudyCreated: 5 Jul 2016, 11:40 a.m.
Mode of inheritance for gene: CFB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CFB were set to Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Publications for CFB were set to 17182750; 20108004
This gene has been classified as Green List (High Evidence).
CFB was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review,Illumina TruGenome Clinical Sequencing Services,UKGTN
CFB was created by sleigh