Genomics England
GMS Panels
Panels
Genes and Entities

PLCB1

phospholipase C beta 1
OMIM: 607120
PanelMode of inheritanceDetails
2 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive, Epileptic encephalopathy, early infantile, 12
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 12, 613722, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12