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Prepair 1000+

Gene: DGKE

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

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

From Mendeliome; Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Seen in more than 10 families. Early onset- Lemaire (2013-PMID 2354698) outlines the disorder was characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. From OMIM, sequencing the DGKE gene in 47 additional unrelated probands with pediatric-onset aHUS and 36 adult-onset aHUS probands.
Created: 8 Jan 2025, 3:47 a.m. | Last Modified: 8 Jan 2025, 3:47 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 7, MIM# 615008

Publications

Created: 8 Jan 2025, 3:47 a.m.
Last Modified: 8 Jan 2025, 3:47 a.m.
Panel version: 1.992

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephrotic syndrome, type 7, MIM# 615008
OMIM
601440
Clinvar variants
Variants in DGKE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DGKE were changed from Nephrotic syndrome, type 7, 615008 (3) to Nephrotic syndrome, type 7, MIM# 615008

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DGKE were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DGKE was added gene: DGKE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGKE were set to Nephrotic syndrome, type 7, 615008 (3)