PABPC1

poly(A) binding protein cytoplasmic 1
OMIM: 604679
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Expressive language delay, Intellectual disability, Behavioral abnormality, Seizures
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Expressive language delay, Intellectual disability, Behavioral abnormality, Seizures