Proteinuria
Gene: DGKE

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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. More than 10 families reported.
Created: 7 May 2022, 8:22 a.m. | Last Modified: 7 May 2022, 8:22 a.m.

Panel Version: 0.194

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 7, MIM# 615008

Publications

Created: 7 May 2022, 8:22 a.m.
Last Modified: 7 May 2022, 8:22 a.m.
Panel version: 0.194

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Nephrotic syndrome, type 7, MIM# 615008

OMIM

601440

Clinvar variants

Variants in DGKE

Penetrance

None

Publications

Panels with this gene