Genomics England
GMS Panels
Panels
Genes and Entities

PPP1R3F

protein phosphatase 1 regulatory subunit 3F
PanelMode of inheritanceDetails
2 panels
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
Signed-off version 9.56
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071