Proteinuric renal disease

Gene: DGKE

Amber List (moderate evidence)

DGKE (diacylglycerol kinase epsilon)
EnsemblGeneIds (GRCh38): ENSG00000153933
EnsemblGeneIds (GRCh37): ENSG00000153933
OMIM: 601440, Gene2Phenotype
DGKE is in 6 panels

3 reviews

Catherine Snow (Genomics England)

Comment 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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Changing rating to green as multiple cases reported and expert review says proteinuria is a prominent feature
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 7 #615008
Tags
for-review
OMIM
601440
Clinvar variants
Variants in DGKE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: dgke has been classified as Amber List (Moderate Evidence).

24 Jun 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: DGKE.

21 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: dgke has been classified as Green List (High Evidence).

21 Mar 2020, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: DGKE was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: dgke has been classified as Amber List (Moderate Evidence).

23 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: DGKE were changed from to Nephrotic syndrome, type 7 #615008

23 Jun 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DGKE were set to

4 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: DGKE was added gene: DGKE was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: DGKE was set to