PLCB1

phospholipase C beta 1
OMIM: 607120
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Recessive, Epileptic encephalopathy, early infantile, 12
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 12, 613722, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12