PPP2CA

protein phosphatase 2 catalytic subunit alpha
OMIM: 176915
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Abnormality of nervous system morphology, Seizures, Language impairment, Muscular hypotonia, Feeding difficulties, Intellectual disability, Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354, Global developmental delay
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Abnormality of nervous system morphology, Seizures, Language impairment, Muscular hypotonia, Feeding difficulties, Intellectual disability, Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354, Global developmental delay