Atypical haemolytic uraemic syndrome
Gene: DGKE
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.
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 615008Created: 16 Aug 2016, 3:10 p.m.
Comment on phenotypes: Variants also reported in Nephrotic syndrome, type 7 615008Created: 16 Aug 2016, 3:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008
Publications
Source NHS GMS was added to DGKE. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 17/08/2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for DGKE were set to Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008
DGKE was added to Atypical haemolytic uraemic syndromepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
DGKE was created by sleigh