Unexplained kidney failure in young people
Gene: DGKE

DGKE (diacylglycerol kinase epsilon)
EnsemblGeneIds (GRCh38): ENSG00000153933
EnsemblGeneIds (GRCh37): ENSG00000153933
OMIM: 601440, Gene2Phenotype
DGKE is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 4 Aug 2016, 12:22 p.m.

Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE Study
Created: 5 Jul 2016, 12:16 p.m.

Created: 5 Jul 2016, 12:16 p.m.

Panel version: 0.142

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Expert list
Radboud University Medical Center, Nijmegen
Expert Review
UKGTN

Phenotypes

Nephrotic syndrome, type 7 615008
{Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008

OMIM

601440

Clinvar variants

Variants in DGKE

Penetrance

Complete

Publications

Panels with this gene