1. Genes and Genomic Entities
  2. PABPC1

PABPC1

poly(A) binding protein cytoplasmic 1
OMIM: 604679, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber PABPC1 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Global developmental delay
    • Expressive language delay
    • Intellectual disability
    • Behavioral abnormality
    • Seizures
    Tags
    • Q3_23_promote_green
    • Q3_23_MOI
    Amber PABPC1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Global developmental delay
    • Expressive language delay
    • Intellectual disability
    • Behavioral abnormality
    • Seizures
    Tags
    • Q3_23_promote_green
    • Q3_23_MOI
    • Q3_23_phenotype