Genomics England
GMS Panels
Panels
Genes and Entities

PPP2CA

protein phosphatase 2 catalytic subunit alpha
OMIM: 176915
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 8.0
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
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