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  2. Renal and urinary tract disorders
  3. DGKE
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Renal and urinary tract disorders

Gene: DGKE

Green List (high evidence)
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: Imported from End-stage renal disease - childhood onset panel version 0.142

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008
  • Nephrotic syndrome, type 7 615008
OMIM
601440
Clinvar variants
Variants in DGKE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DGKE was added gene: DGKE was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGKE were set to 23542698; 23274426 Phenotypes for gene: DGKE were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008; Nephrotic syndrome, type 7 615008