PPP2CA

protein phosphatase 2 catalytic subunit alpha
OMIM: 176915
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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