Proteinuric renal disease
Gene: DGKEComment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review.Created: 16 Oct 2020, 8:05 a.m. | Last Modified: 16 Oct 2020, 8:05 a.m.
Panel Version: 2.30
Multiple families reported in the literature, proteinuria is a prominent feature.Created: 9 Jan 2020, 3:35 a.m. | Last Modified: 9 Jan 2020, 3:35 a.m.
Panel Version: 2.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 7, MIM# 615008
Publications
Variants in this GENE are reported as part of current diagnostic practice
The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note and overlap with aHUSCreated: 7 Mar 2022, 11:37 p.m. | Last Modified: 7 Mar 2022, 11:37 p.m.
Panel Version: 2.66
Comment on list classification: Changing rating to green as multiple cases reported and expert review says proteinuria is a prominent featureCreated: 21 Mar 2020, 2:46 p.m. | Last Modified: 21 Mar 2020, 2:46 p.m.
Panel Version: 2.15
Associated with Nephrotic syndrome, type 7 #615008 (AR) in OMIM.
PMID: 23542698 - Lemaire et al 2013 - 9 families identified with homozgyous or compound heterozygous variants in DGKE. All were cases of pediatric-onset aHUS. One variant was found in on both alleles in 3 families (p.Trp322*) and heterozygously in 2 others and the families are thought to have a remote shared ancestry. Three patients from different families developed nephrotic syndrome 3-5 years after disease onset.
PMID: 23274426 - Ozaltin et al 2013 - 3 consanguineous families - 3 different homozygous variants in 9 individuals. Table 1 gives proteinuria levels at onset.Created: 30 Jan 2020, 4:29 p.m. | Last Modified: 30 Jan 2020, 4:29 p.m.
Panel Version: 2.0
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: DGKE; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 23274426; PMID: 23542698; Other comments: Not sure of disease spectrum and overlap with aHUS, but patients reported to have proteinuria sometimes in nephrotic range. No positive cases reported in >600 SRNS referrals.Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 7 #615008
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: DGKE were changed from Nephrotic syndrome, type 7 #615008 to Nephrotic syndrome, type 7, OMIM:615008
Tag for-review was removed from gene: DGKE.
Source Expert Review Green was added to DGKE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: dgke has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: DGKE.
Gene: dgke has been classified as Green List (High Evidence).
Mode of inheritance for gene: DGKE was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: dgke has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DGKE were changed from to Nephrotic syndrome, type 7 #615008
Publications for gene: DGKE were set to
gene: DGKE was added gene: DGKE was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: DGKE was set to