DGKE

diacylglycerol kinase epsilon
OMIM: 601440
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R201
Signed-off version 3.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R197
Signed-off version 3.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Haemolytic uraemic syndrome, aHUS, Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008, Nephrotic syndrome, type 7, 615008, C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R195
Signed-off version 4.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 7, OMIM:615008