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
R-numbers: R59
Signed-off version 5.10
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Expressive language delay, Intellectual disability, Behavioral abnormality, Seizures
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Expressive language delay, Intellectual disability, Behavioral abnormality, Seizures