1. Genes and Genomic Entities
  2. PIGU

PIGU

phosphatidylinositol glycan anchor biosynthesis class U
OMIM: 608528, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PIGU in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Intellectual Disability, Central Nervous System anomalies and Scoliosis
    Green PIGU in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    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
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590
    Tags
    • missense
    Green PIGU in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590
    Tags
    • missense