Renal and urinary tract disorders
Gene: C3Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. At least three variants reported in C3 deficiency 613779 and at least four in Hemolytic uremic syndrome, atypical, susceptibility to, 5 612925Created: 4 Aug 2016, 10:27 a.m.
Comment on phenotypes: Also associated with {Macular degeneration, age-related, 9} 611378Created: 4 Aug 2016, 10:25 a.m.
Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE StudyCreated: 5 Jul 2016, 10:26 a.m.
Phenotypes for gene: C3 were changed from C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD to C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
Sarah Leigh: Comment on list classification
Phenotypes for gene: C3 were changed from C3 deficiency to C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
gene: C3 was added gene: C3 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: C3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: C3 were set to 15781264; 18796626 Phenotypes for gene: C3 were set to C3 deficiency