Unexplained young onset end-stage renal disease
Gene: CFB
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, 11:10 a.m. | Last Modified: 14 Oct 2021, 11:10 a.m.
Panel Version: 1.20
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
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.
gene: CFB was added gene: CFB was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CFB were set to 17182750; 20108004 Phenotypes for gene: CFB were set to Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924