1. Genes and Genomic Entities
  2. PGBD5

PGBD5

piggyBac transposable element derived 5
OMIM: 616791, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
No list PGBD5 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.192
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Seizures
    • global developmental delay
    • spasticity
    • hypotonia
    No list PGBD5 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.397
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Seizures
    • global developmental delay
    • spasticity
    • hypotonia