Proteinuric renal disease

Gene: DGKE

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

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

• 23542698
• 23274426

Variants in this GENE are reported as part of current diagnostic practice

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note and overlap with aHUS

Created: 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 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

• PMID: 23274426
• PMID: 23542698

Variants in this GENE are reported as part of current diagnostic practice