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Membranoproliferative glomerulonephritis

Gene: DGKE

Green List (high evidence)

DGKE (diacylglycerol kinase epsilon)
EnsemblGeneIds (GRCh38): ENSG00000153933
EnsemblGeneIds (GRCh37): ENSG00000153933
OMIM: 601440, Gene2Phenotype
DGKE is in 7 panels

4 reviews

Daniel Gale (UCL)

Green List (high evidence)

A single paper (PMID: 23274426, Ozaltin et al 2013) reported proteinuric renal disease and a biopsy showing morphological features of MPGN (although no C3 and scanty immunoglobulin deposition) in 9 patients with biallelelic (mostly truncating) DGKE mutations. Heterozygous parents were unaffected.
Created: 10 Jan 2020, 11:37 a.m. | Last Modified: 10 Jan 2020, 11:37 a.m.
Panel Version: 2.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Proteinuria; membranoproliferative glomerulonephritis

Publications

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

Eleanor Williams (Genomics England Curator)

I don't know

Comment on mode of inheritance: Changing MOI to Biallelic only. All reported cases are homozygous.
Created: 23 Mar 2020, 11:41 a.m. | Last Modified: 23 Mar 2020, 11:41 a.m.
Panel Version: 2.9
Recent review by Daniel Gale rates the gene green so no change in rating.

Checking mode of inheritance:
PMID: 23274426 - Ozaltin et al 2013 - 3 consanguineous families - 3 different homozygous variants in 9 individuals.
PMID: 28526779 - Azukaitis et al 2017 - review of 24 patients with aHUS/MPGN and variants in DGKE. The 9 cases with MPGN-like renal biopsies are those reported in Ozaltin et al 2013

Other papers cited by BRIDGE review are related to aHUS only (PMID: 23542698 and 21902819)

OMIM lists the mode of inheritance for Nephrotic syndrome, type 7, #615008 as AR.

Therefore, the mode of inheritance should be updated to BIALLELIC only.
Created: 29 Jan 2020, 5:04 p.m. | Last Modified: 29 Jan 2020, 5:04 p.m.
Panel Version: 2.2
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, 12:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Upgraded to green following the expert's advise (Dr Daniel Gale) give the recent publication (28526779)
Created: 17 Dec 2017, 10:37 p.m.
Comment when marking as ready: Marked as amber as the recently published 28526779 described DGKE mutations in MPGN. To be upgraded as green following the expert review
Created: 15 Dec 2017, 4:18 p.m.

BRIDGE consortium (NIHRBR-RD)

Red List (low evidence)

Novel gene currently associated to atypical haemolytic uraemic syndrome (aHUS), but are thought to be also causative for MPGN. PMID: 23542698 study of patients with atypical haemolytic uraemic syndrome, not PMG. Because of the variable expressivity of some complement gene mutations, we have included the genes known to cause (and in routine clinical testing in) the mechanistically related, extremely rare disease atypical Haemolytic Uraemic Syndrome (aHUS). There is now good evidence that mutations that are associated with aHUS can be found in patients with Primary MPGN/C3G (see Servais et al PMID: 22456601). Therefore known or clearly pathogenic mutations previously associated with aHUS would be presumed to be causative in patients with PMG where this is the clinical presentation.
Created: 5 Jun 2017, 3:49 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008; Nephrotic syndrome, type 7, 615008; C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
Phenotypes
  • Haemolytic uraemic syndrome
  • aHUS
  • Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008
  • Nephrotic syndrome, type 7, 615008
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
OMIM
601440
Clinvar variants
Variants in DGKE
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Mar 2020, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

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 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Dec 2017, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

15th December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Arianna Tucci and Louise Daugherty

15 Dec 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

15 Dec 2017, Gel status: 2

Set publications

Arianna Tucci (Genomics England Curator)

Publications for DGKE were set to 23274426; 23542698; 21902819; 28526779

15 Dec 2017, Gel status: 2

Set publications

Arianna Tucci (Genomics England Curator)

Publications for DGKE were set to 23274426; 23542698; 21902819

15 Dec 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Jun 2017, Gel status: 0

Added New Source

Anonymous ()

DGKE was added to Primary Membranoproliferative Glomerulonephritispanel. Sources: Expert list

5 Jun 2017, Gel status: 0

Created

Anonymous ()

DGKE was created by Anonymous