Unexplained young onset end-stage renal disease
Gene: ACE
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Associated with phenotype in OMIM not in G2P. At least four variants reportedCreated: 4 Aug 2016, 9:50 a.m.
Comment on phenotypes: Also associated with [Angiotensin I-converting enzyme, benign serum increase];{Microvascular complications of diabetes 3} 612624;{Myocardial infarction, susceptibility to};{SARS, progression of};{Stroke, hemorrhagic} 614519Created: 4 Aug 2016, 9:49 a.m.
Comment when marking as ready: Promoted from amber to green as two reviewers in agreement.Created: 29 Mar 2016, 10:19 a.m.
gene: ACE was added gene: ACE was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to Renal Tubular Dysgenesis; {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis 267430