Genomics England
GMS Panels
Panels
Genes and Entities

PPP2R5C

protein phosphatase 2 regulatory subunit B'gamma
OMIM: 601645
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures, MONDO:0100038
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 9.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Houge-Janssens syndrome 4, OMIM:621185
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Houge-Janssens syndrome 4, OMIM:621185