Atypical Haemolytic Uraemic Syndrome_MPGN
Gene: DGKE
DGKE (diacylglycerol kinase epsilon)
EnsemblGeneIds (GRCh38): ENSG00000153933
EnsemblGeneIds (GRCh37): ENSG00000153933
OMIM: 601440, Gene2Phenotype
DGKE is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000153933
EnsemblGeneIds (GRCh37): ENSG00000153933
OMIM: 601440, Gene2Phenotype
DGKE is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 8:14 a.m. | Last Modified: 7 May 2022, 8:14 a.m.
Panel Version: 0.13913
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 7, MIM# 615008
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 601440
- Clinvar variants
- Variants in DGKE
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DGKE was added gene: DGKE was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DGKE was set to Unknown