Genomics England
GMS Panels
Panels
Genes and Entities

PLCE1

phospholipase C epsilon 1
OMIM: 608414
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHROTIC SYNDROME, TYPE 3 610725
Green
in Proteinuric renal disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R195
Signed-off version 4.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 3 #610725, Congenital nephrotic syndrome/SRNS