PGBD5

piggyBac transposable element derived 5
OMIM: 616791, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PGBD5 in Mendeliome


Version 1.4294

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482

Green PGBD5 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.375

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482

    Green PGBD5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.665

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482

    Green PGBD5 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.142

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482