Genomics England
GMS Panels
Panels
Genes and Entities

DGKE

diacylglycerol kinase epsilon
OMIM: 601440
PanelMode of inheritanceDetails
4 panels
Green
in Atypical haemolytic uraemic syndrome
R-numbers: R201
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008
Green
in Membranoproliferative glomerulonephritis including C3 glomerulopathy
R-numbers: R197
Signed-off version 3.0
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
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 4.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 7, OMIM:615008
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 7 615008, {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008