Groopman et al 2019 - Genes with diagnostic variants

Gene: PLCE1

Red List (low evidence)

PLCE1 (phospholipase C epsilon 1)
EnsemblGeneIds (GRCh38): ENSG00000138193
EnsemblGeneIds (GRCh37): ENSG00000138193
OMIM: 608414, Gene2Phenotype
PLCE1 is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: PLCE1; Inheritance: AR; Clinical diagnosis: Glomerulopathy; Genetic diagnosis: Nephrotic syndrome type 3; OMIM phenotype MIM No.: 610725; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • MIM 610725
  • Glomerulopathy
  • Nephrotic syndrome type 3
OMIM
608414
Clinvar variants
Variants in PLCE1
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to PLCE1.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PLCE1 was added gene: PLCE1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLCE1 were set to MIM 610725; Glomerulopathy; Nephrotic syndrome type 3