Genomics England
GMS Panels
Panels
Genes and Entities

PABPC1

poly(A) binding protein cytoplasmic 1
OMIM: 604679
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Global developmental delay, Expressive language delay, Intellectual disability, Behavioral abnormality, Seizures
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Global developmental delay, Expressive language delay, Intellectual disability, Behavioral abnormality, Seizures