Atypical haemolytic uraemic syndrome
Gene: DGKE

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

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Valerie Wilson, The National Renal Complement Therapeutics Centre, February 2019 on behalf of Yorkshire and North East GLH for the GMS Renal Specialist Test Group; Gene Symbol submitted: DGKE; Suggested initial gene rating: none provided;
Created: 12 Feb 2019, 12:40 p.m.

Created: 12 Feb 2019, 12:40 p.m.

Panel version: 1.7

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. At least six variants reported five individuals as homozygotes or compound heterozygotes in Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008
Created: 16 Aug 2016, 3:10 p.m.

Comment on phenotypes: Variants also reported in Nephrotic syndrome, type 7 615008
Created: 16 Aug 2016, 3:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008

Publications

Created: 16 Aug 2016, 3:06 p.m.

Panel version: 0.44

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008

OMIM

601440

Clinvar variants

Variants in DGKE

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

12 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DGKE. Rating Changed from Green List (high evidence) to Green List (high evidence)

17 Aug 2016, Gel status: 4