ACE

angiotensin I converting enzyme
OMIM: 106180
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular dysgenesis 267430
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CAKUT, Renal Tubular Dysgenesis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular dysgenesis, OMIM:267430